Archive for July, 2021

SAN DIEGO, July 02, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that Chief Medical Officer Dr. Alka Chaubey and current President of the Cancer Genomics Consortium Dr. Yassmine Akkari will present at the 6th Annual International Conference of the Board of Genetic Counseling India to be held virtually from July 2nd-4th 2021. Dr. Chaubey has been recognized to present as an invited speaker and will discuss how optical genome mapping (OGM) is enabling a revolution in cytogenetics during a session titled Genetic Counseling in the Omics Era on Saturday July 3rd at 9:25 am IST. Dr. Akkari will present her results using OGM for the genome analysis of Acute Myelogenous Leukemia (AML), and discuss how genetic counselors can introduce OGM to patients on July 3rd at 4:10 pm IST. Bionano Genomics is a Diamond Sponsor of the conference.

This conference aims to promote education among genetic counselors, specialists, doctors, health care providers and students, about current topics in genetics, genomics and genetic counseling. The Annual International Conference of the Board of Genetic Counseling India has over 2,000 delegates from across the globe and can be accessed at bgciconference.com

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano provides genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit http://www.bionanogenomics.com or http://www.lineagen.com.

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CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations and Media Contact:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

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Bionano Genomics Chief Medical Officer Dr. Alka Chaubey and Cancer Genomics Consortium President Dr. Yassmine Akkari to Present on Optical Genome...

Shahid Akhter, editor, ETHealthworld, spoke to Neeraj Gupta, Founder and CEO, Genes2me, to know more about the increased need for molecular diagnostics during the Cocvid-19 pandemic.

How has the molecular diagnostics market evolved in the last decade?The importance of Molecular Diagnostics have received significant recognition in last decade and with the emergence of Covid-19 pandemic in last 1 year, RTPCR tests have become common talking term in every house along with eruption in the Healthcare requirements. In order to cater huge requirements of RTPCR testing for Covid-19, numerous laboratories have adopted RTPCR and automated RNA Extraction platforms. Also, multiple Companies expanded their portfolio and ventured into IVD kits manufacturing as the demand increased for Made In India products.

Why there is a need for Advanced Molecular Diagnostics and Genetic testing segment?There has been increased need for Advanced Molecular Diagnostics and Genetic Tests due to increase in occurrence of Rare Genetic Disorders and new Infectious Diseases (like SARS-COV-2, Mucormycosis, etc.). Also as new strains of SARS-COV-2 are frequently being reported, importance of Advanced Genetic Testing gains significance. Recently, Genes2Me have also developed Unique Mutation Classifier assay which can rapidly differentiate 40 variants between 16 SARS-CoV-2 strains allowing quick genetic screening of large sections of population.What has been the role of technology in enhancing India's testing condition during this pandemic?With the emergence of Covid-19, the need of Molecular Diagnostics have been recognised and grown in last 1 year with spread of network of RTPCR and Automated RNA Extraction Instruments across India. It has really helped in ramping the testing for Diagnosing positive cases on time. Genes2Me is also aggressively working to leverage this massive installed base of Genetic Testing platforms. Based on our expertise in Genomics and access to latest Technologies, we have been able to develop several assays for Infectious diseases, Oncology and Reproductive Health in India. Most of these test panels have been Import dependent from other countries. Similarly, Genes2Me team is aggressively working to develop diverse range of Research and Diagnostics Solutions for Nucleic Acid testing along with Next Generation Sequencing reagents for Genome sequencing.

Genes2Me is committed to continuously deliver Innovative and scientific solutions such as much needed Unique Mutation Classifier assay for SARS-COV-2 strain and easy self-use Antigen test kits solutions which is under R&D phase, besides many other products.

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Emergence of new strains of SARS-COV-2, paves the way for Advanced Genetic Testing: Neeraj Gupta, Genes2me - ETHealthworld.com

I am nominating Lily Apfel, LVN, for the Extraordinary Healer Award. I came to know Lily in 2015 when she was diagnosed with breast cancer at the age of 35. She was a LVN working at our gastroenterology clinic. She was under my care and received comprehensive treatment including surgery, chemotherapy and radiation. During the treatment, she showed great strength and handled the tough ordeals gracefully. Our staff loved her.

Half a year later, at one of her follow-up appointments, I recruited her, and she was extremely excited and has joined us since. For the ensuing years, she has taken important roles. I am a solo provider for this community, so our staff often take multiple roles to meet the complexity of oncology care. She is our liaison and go-to person on oncology-specialty oral drugs. She is our head person on genetic testing. She handles our tumor board logistics.

There are also other attributes that make her unique. She is a great patient advocate, especially for uninsured Hispanics in our community. Lily is fluent in Spanish, and she is almost the only person these patients depend on to get their oncology care coordinated and drugs covered. She would go beyond for those patients. Lily is also very active in her own community, which is different from where she is working. It is not uncommon to hear that she does house hospice visits.

Please consider her for this Extraordinary Healer Award. Our clinic and community are very fortunate to have her.

Editors Note: This is an essay submitted by Dr. Hengbing Wang for the 2021 Extraordinary Healer Award. Click here to read more about CUREs Extraordinary Healer Award for Oncology Nursing event on April 30, 2021.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

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Impacting Communities Around Her as a Patient and Nurse - Curetoday.com

Amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig's disease, is a rare neurological disorder that that approximately 20,000 U.S. residents are living with during any given year. And while your chances of receiving an ALS diagnosis may be relatively low, the prognosis for people with ALS is dire. According to the Centers for Disease Control and Prevention (CDC), patients with ALS typically live just two to five years after first displaying symptoms, which typically include muscle weakness or stiffness, spasms, fatigue, and difficulty swallowing, among others.

Researchers know that these symptoms arise due to the disease attacking motor neurons in the brain and spinal cord which are needed for muscle movement, but the root cause of ALS is still unfortunately unknown. Experts say that both genetic and environmental factors likely play a role. In fact, there's one genetic factor that may give you an insight into your risk level. Read on to discover the one thing 90 percent of people with ALS have have in common.

RELATED:If You Notice This in the Morning, It May Be an Early Sign of Parkinson's.

According to the ALS Association (ALSA), roughly 90 percent of patients have "sporadic ALS," a type of ALS that is not inherited through genetic mutations. In these cases, the person diagnosed is the only person in their family with the disease. The onset of their disease typically occurs later than it does in patients with a known family history of ALS.

RELATED:If You Do This at Night, It May Be an Early Sign of Parkinson's, Study Says.

The remaining 10 percent of ALS cases are considered "familial ALS" (FALS). "In these cases, more than one person in the family has ALS and sometimes family members have frontotemporal dementia as well. People with FALS often start showing symptoms at earlier ages than in sporadic ALS," writes Deborah Hartzfeld, MS, a certified genetic counselor (via the ALSA).

This statistic can spur confusion for some about one's odds of developing ALS depending on family history. While nine out of 10 people with ALS will have no known family history, you're much more likely to develop ALS if you've got a family history of the disease than if you do not.

The FALS gene mutation is most often autosomal dominant, meaning only one parent must have it in order to pass it onto their children. It also means that the affected parent has one copy of the gene with a mutation and one without, meaning they have a 50 percent chance of passing it the mutation on to their offspring.

According to the ALS Association, "typically, although not always, there will be someone in each generation with ALS and/or dementia," which appears alongside ALS in one third of cases. It is worth noting that not everyone with the genetic mutation will go on to develop symptoms of ALS.

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Though 90 percent of ALS cases are not the result of an inherited genetic mutation, genetic screening can help you better understand your risk if you do have a family history. This will typically require either a blood or saliva test, and can take several months to get results. The results can only be interpreted if the person in your family diagnosed with ALS is also able to participate in testing.

However, the ALSA points out that even with genetic testing, you cannot rule out the possibility of passing on familial ALS. "Not having an identified genetic mutation does not eliminate a FALS diagnosis and other family members may still be at risk for developing ALS," the organization explains. Speaking with your doctor is the first and most important step to find out your personal riskespecially if you're presenting with any possible ALS symptoms.

RELATED:This Is The Single Best Way to Predict Your Heart Attack Risk, Experts Say.

Link:
90 Percent of People With ALS Have This in Common, Experts Say - Best Life

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Predictive Genetic Testing And Consumer/Wellness Genomics Market Size and Growth 2021-2027 | Top Manufacturers Illumina, BGI, Genesis Genetics,...

Genetic testing, or more specifically pharmacogenomics, plays an important role by enabling healthcare providers to more accurately predict which treatments will work well, as well as which drugs may lead to unwanted side effects.

In the case of cancer treatments, it is also possible to look at the genome of the tumour itself to see which therapies are most likely to be effective. The Clinical Pharmacogenetics Implementation Consortium (CPIC) is an international group dedicated to facilitating the use of pharmacogenomic testing for patient care. One such example of this is dihydropyrimidine dehydrogenase (DPD) enzyme deficiency screening, by way of DPYD gene testing. Yourgene Health are proud to be supporting the international roll out of this screening to the benefit of millions of patients undergoing treatment for cancer.

Fluoropyrimidines such as 5-Fluorouracil (5-FU) and its prodrugs capecitabine and tegafur are chemotherapy agents widely used in the treatment of patients with gastrointestinal (GI), head/neck, breast, and other forms of solid tumour cancer. Only a fraction of a fluoropyrimidine drug is transformed into active cytotoxic agents. The dihydropyrimidine dehydrogenase (DPD) enzyme is necessary to catabolise most of these agents to inactive products, thus limiting the circulating levels of fluoropyrimidines. When DPD enzyme activity is deficient, patients treated with standard dosing of fluoropyrimidines are at significantly increased risk of severe toxicities or even death. The DPYD gene encodes for the synthesis of the DPD enzyme. DPD enzyme deficiency is strongly correlated with certain variants in the DPYD gene.

Fluoropyrimidines-based chemotherapy is used to treat over two million patients every year across the world. 3-8% of individuals are believed to be carriers of one or more known risk variants in DPYD gene. Carriers of a causative variant are at up to an 88% risk of severe toxicity if treated with a standard dose. DPYD testing helps identify those individuals who are at increased risk of these toxic side effects. These patients can be offered alternative therapies or lower treatment doses. The CPIC has issued guidance on dosage modifications recommended for a select number of genotypes and their associated activity score. Pre-emptive genotyping of all patients for these specific variants has proven highly precise in predicting an adverse drug response, with a specificity of ~95%.

Late last year NHS England announced that all at-risk cancer patients (approximately 38,000 each year) will now routinely be tested for DPYD variants. The Elucigene DPYD assay is already in use across multiple laboratories in several English Genomic Laboratory Hubs, including Liverpool and Cambridge.

The assay is also being used to provide nation-wide testing in Wales following a successful pilot programme with All Wales Medical Genomics Service (AWMGS), and for Scotland in within the Genetic Consortium Laboratories. In Wales alone, the test is used to screen approximately 200 patients each month. If the screen positive rate of 6% identified in the pilot continues, we anticipate 144 cancer patients will be prevented from having toxic chemotherapy reactions over the next year.

Please note: This is a commercial profile

2019. This work is licensed under aCC BY 4.0 license.

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DPYD genotyping to improve patients' therapy response - Open Access Government

This piece originally appeared on the Good Notes blog.

Virtual health care is here to stay. Many believe the era of telehealth was launched by the coronavirus pandemic. It wasnt, but the health crisis certainly accelerated it. Prior to the pandemic, 2% of University of Utah Health providers had seen patients virtuallynow, 90% have. From March 2020 to March 2021, our providers held 400,000 virtual telehealth sessions. That amounts to between 6,000 and 8,000 sessions a week.

Telehealth will continue to evolve. It already involves more than live transmission of a patients face onto a providers device while the patient describes his or her state of health and asks questions. As diagnostics continue to improve, patients will be able to do more within their own homes. Wearable medical devices are increasingly integrated with remote care delivery. Remote labs continue to emerge, changing how patients monitor their health. Think of swabs that patients collect in the comfort of home and drop into a mailbox for analysis. This exists for genetic testing companies like 23andMe. We did it with COVID-19 tests. Coronavirus testing advanced quite rapidly so that someone at home could do a self-swab and send it back to a central lab.

For more complex lab diagnostics, imagine the day when a lab technician comes to your home to collect samples for testing or perform imaging tests like an X-ray. The idea is to flip the supply chain upside down: Instead of the patient coming to the hospital, lab or imaging center, why not the hospital, lab, or imaging center going to the patient?

The premise of all these things is making health care more convenient, easier to access, and ultra-consumer-centered. Delivery in the home, or wherever it may be convenient for the patient, is a rapidly expanding trend. Video visits are just one component of it. Certain visits still need hands-on evaluation, often with a video component. From my perspective as an orthopaedist, we had to develop a structure for telehealth sessions to be effective. We now have a short video we send to patients ahead of time that tells them the multiple steps they should take before treatment. For a new patient appointment, I need the patient to make certain videos and take certain photographs of themselves to send in, before I see them virtually. My colleagues and I intend to streamline virtual visits even more because its incredibly cost-effective and time-effective for the patient.

Telehealth also means better access to care and treatment at U of U Health for our patient base geographically spread across the Mountain West and beyond. We have one of the most rural populations of a major academic medical center anywhere in the country. Virtual care gives us a chance to reach out, talk to, and evaluate patients across broad geography without them needing to leave their homes or burn carbon fuels. It gets us even closer to University of Utah Healths goal of providing our regional population with access to world-class patient-centered care.

With telehealths initial success and great potential, its still not for everyonenor effective for every condition. Many patients remain skeptical about virtual visits, thinking their physician may not get an accurate picture or full understanding of their health issue. There are also patients who just find comfort and reassurance from in-person conversations. We need to give patients choice. As long as it is clinically appropriate, telehealth works wellespecially when we match the right circumstances to a patients preference.

Our data shows that whats wanted is as varied as our patient populations. A core group of more digitally literate patients quickly recognized the benefits of virtual care. Most of these patients connect to us with their smartphones. They are motivated to learn quickly because digital technology connects with their physicianand helps them bring in family members from dispersed locations to participate in health care visits. Yet theres a huge swath of our patient population that hasnt had enough digital experience to be comfortable talking device to device.

The telehealth option is increasingly widespread. Its not just at U of U Health, an academic health organization with state-of-the-art digital equipment, where the reconfigured world of patient care is underway. Traditional health care business models of all sizes are expanding home-based clinical care. Coalitions have formed among health care groups to support policy changes that designate the home as a site of clinical service.

With vaccinations and the number of COVID cases falling during the last couple of months, theres been an appropriate decrease in virtual care within our system. But it has not returned to pre-COVID levels. It is here to stay. So our mission in approaching the new normal is to pivot and be especially strategic about virtual care to ensure that we use it to meet the needs of our patients. Whenever possible, we also want to offer the deep resources of our academic tertiary health care system. We need to maintain exceptional value with high standards of quality and experience for patients and providers.

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Here to stay: The era of telehealth | @theU - @theU

The Latest Direct to consumer Genetic Testing Market report helps to identify the growth factors and business opportunities for the new entrants in the Global Direct to consumer Genetic Testing industry with a detailed study of Market Dynamics and technological innovations and trends of the Global Direct to consumer Genetic Testing Market. The report covers all leading vendors operating in the market and the small vendors which are trying to expand their business at a large scale across the globe. That report presents strategic analysis and ideas for new entrants using a historic data study. The study report offers a comprehensive analysis of market share in terms of percentage share, gross premium, and revenue of major players functioning in the industry of the Global market. Thus, the report provides an estimation of the market size, revenue, sales analysis, and opportunities based on the past data for current and future market status.

This research report offers PESTEL analysis, Porters Five Force Analysis, and Ecosystem analysis of the Global Direct to consumer Genetic Testing Market. Furthermore, the research report covers all the major countries and regions which have a good market scale of different vendors in those regions. Also, the report forecasts the market size of the Global Direct to consumer Genetic Testing Market in Compound Annual Growth Rate in terms of revenue during the forecast period. The research report also offers in-depth analysis about the Agreements, collaboration, and partnership among different vendors across the globe to expand the business of the Global Direct to consumer Genetic Testing Market.

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Direct to consumer Genetic Testing Market Research Insight 2021 Complete Overview & Qualitative Analysis by Major Companiess like 23andMe,...

Nonacus, a provider of genetic testing products for precision medicine and liquid biopsy, and the University of Birmingham have partnered to develop a non-invasive test for bladder cancer. The test, which is expected to be available by mid-2022, will use highly sensitive liquid biopsy technology developed by Nonacus, and a panel of biomarkers validated by Dr. Rik Bryan and Dr. Douglas Ward from the Universitys Bladder Cancer Research Centre, to diagnose the disease from urine samples.

Bladder cancer is the seventh most common cancer in the developed world. In the UK, over 100,000 people a year are referred to hospital clinics that investigate for bladder cancer, usually after passing blood in their urine (haematuria). The first stage of investigation is usually cystoscopy, which involves inserting a camera into the bladder. Of these 100,000 patients, around 12% are subsequently diagnosed with bladder cancer, normally after a second invasive procedure to extract a biopsy.

Dr. Bryan, Director of the Bladder Cancer Research Centre, commented: While blood visible in the urine should always be investigated, over 80% of people who have a cystoscopy at a haematuria clinic are diagnosed with non-malignant conditions or have no abnormality. Unfortunately, the remaining 20% will need a further invasive procedure to confirm a diagnosis. What is required is a highly sensitive and specific, non-invasive test that can rapidly determine those who need a biopsy and those who do not, and a urine test is the obvious place to start.

While the liquid biopsy approach is attractive, the low levels of tumor DNA in a background of DNA from normal tissues require highly sensitive analytical techniques to obtain accurate results. However, researchers at the University started their work in the knowledge that Nonacus had successfully pioneered commercial non-invasive prenatal tests to identify low levels of fetal DNA in maternal blood samples. Moreover, the company was developing methods to allow confident and sensitive calling of mutations from as little as 10ng of DNA.

The researchers used deep sequencing of tumor DNA to identify mutations that are present in the majority of urothelial bladder cancers (UBCs). Their work, which was funded by Cancer Research UK and an MRC Confidence in Concept grant, involved sequencing 23 genes from tumor samples collected from 956 newly diagnosed, treatment-nave patients. This deep sequencing of genes identified 451 unique mutations that were present in over 96% of tumors. The researchers also demonstrated that these mutations were identifiable in urine samples collected at the same time as tumor sampling.

As the researchers have shown, mutated DNA in a urine sample can be extracted from cancer cells shed into the urine from the lining of the urinary tract or can be found as cell-free DNA fragments2. However, extracting DNA from the cancer cells provides more reliable amounts of DNA for the test, especially when only small volumes of urine may be available. Coupling the mutation panel with the unique molecular identifiers and the proprietary target capture technology provided by the Nonacus Cell3 Target will provide a much more sensitive test than the existing PCR-based approach. The researchers are already working on validating this combination in a further 600 cases (including non-cancer cases) and they expect to publish data on sensitivity and specificity within six months.

Nonacus intends to launch the new bladder cancer test within 12 months, and the final product will include access to bioinformatics software to help with analysis. The company expects the test will provide high sensitivity for all stages and grades of disease and will ensure the test is available worldwide to laboratories, hospitalsand clinics.

Promisingly, the original research also determined the influence of the mutations on cancer progression, time to recurrence, and overall and disease-specific survival in patients with non-muscle-invasive bladder cancer (NMIBC), and disease-specific survival in patients with muscle-invasive bladder cancer (MIBC), raising the possibility that the test could be used to stratify patients according to risk.

Chris Sale, CEO of Nonacus, commented: We expect this partnership to deliver better care and outcomes for patients by reducing the number of invasive procedures, providing earlier diagnosis and speeding up access to treatment for people with bladder cancer.

Tony Hickson, Chief Business Officer at Cancer Research UK, said: "As funders of much of the world-class, cutting-edge cancer research happening in the UK, we offer unique opportunities to commercial partners looking for early involvement in new discoveries. Having Nonacus on board to help transform promising findings in the lab into a new non-invasive test to diagnose bladder cancer is a testament to how commercial collaborations have the potential to transform the lives of patients. We are looking forward to seeing the next steps as the test is developed and rolled out to the UK and beyond.

Allen Knight, Chair of Trustees, Action Bladder Cancer UK, said: This really is very exciting and has the potential to make an incredible difference for patients and for Bladder Cancer treatment. Currently, urine tests do not accurately pick up bladder cancer, and invasive tests are required to confirm a diagnosis. A urine test that can rapidly determine who needs these tests will be a very welcome development. Many patients, myself included, find cystoscopies very uncomfortable at best, and they can have lasting side effects. This research could pave the way for routine screening, common in other cancers, but unavailable at present for Bladder Cancer."

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Birmingham University and Nonacus partnership - SelectScience

FACTS AT A GLANCEEdition:9;Released:April 2021Executive Engagements:1737Companies:51 - Players covered include Axol Bioscience Ltd.; Cynata Therapeutics Limited; Evotec SE; Fate Therapeutics, Inc.; FUJIFILM Cellular Dynamics, Inc.; Ncardia; Pluricell Biotech; REPROCELL USA, Inc.; Sumitomo Dainippon Pharma Co., Ltd.; Takara Bio, Inc.; Thermo Fisher Scientific, Inc.; ViaCyte, Inc. and Others.Coverage:All major geographies and key segmentsSegments:Cell Type (Vascular Cells, Cardiac Cells, Neuronal Cells, Liver Cells, Immune Cells, Other Cell Types); Research Method (Cellular Reprogramming, Cell Culture, Cell Differentiation, Cell Analysis, Cellular Engineering, Other Research Methods); Application (Drug Development & Toxicology Testing, Academic Research, Regenerative Medicine, Other Applications)Geographies:World; USA; Canada; Japan; China; Europe; France; Germany; Italy; UK; Rest of Europe; Asia-Pacific; Rest of World.

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ABSTRACT-

Global Induced Pluripotent Stem Cell ((iPSC) Market to Reach $2.3 Billion by 2026Induced pluripotent stem cells (iPSCs) hold tremendous clinical potential to transform the entire therapeutic landscape by offering treatments for various medical conditions and disorders. These cells are derived from somatic cells like blood or skin cells that are genetically reprogrammed into embryonic stem cell-like state for developing an unlimited source of a diverse range of human cells for therapeutic applications. The global market is propelled by increasing demand for these cells, rising focus on researchers in the field, and their potential application in treatment of various diseases. The market growth is supplemented by rising prevalence of several chronic disorders such as diabetes, heart disease, stroke and cancer. Moreover, increasing awareness about stem cells and associated research, potential clinical applications and rising financial assistance by governments and private players are expected to contribute significantly to the market expansion. The iPSC technique is anticipated to find extensive adoption in the pharmaceutical industry for developing efficient cell sources like iPSC-derived functional cells to support drug screening and toxicity testing.

Amid the COVID-19 crisis, the global market for Induced Pluripotent Stem Cell ((iPSC) estimated at US$1.6 Billion in the year 2020, is projected to reach a revised size of US$2.3 Billion by 2026, growing at a CAGR of 6.6% over the analysis period. Vascular Cells, one of the segments analyzed in the report, is projected to record a 7.2% CAGR and reach US$835.8 Million by the end of the analysis period. After a thorough analysis of the business implications of the pandemic and its induced economic crisis, growth in the Cardiac Cells segment is readjusted to a revised 7.9% CAGR for the next 7-year period. The demand for iPSC-derived cardiac cells is attributed to diverse applications including cardiotoxicity testing, drug screening and drug validation along with metabolism studies and electrophysiology applications.

The U.S. Market is Estimated at $767.1 Million in 2021, While China is Forecast to Reach $82.4 Million by 2026The Induced Pluripotent Stem Cell ((iPSC) market in the U.S. is estimated at US$767.1 Million in the year 2021. China, the world`s second largest economy, is forecast to reach a projected market size of US$82.4 Million by the year 2026 trailing a CAGR of 8.5% over the analysis period. Among the other noteworthy geographic markets are Japan and Canada, each forecast to grow at 5.5 % and 6.8% respectively over the analysis period. Within Europe, Germany is forecast to grow at approximately 6.5% CAGR. North America leads the global market, supported by continuing advances related to iPSC technology and access to functional cells used in pre-clinical drug screening. The market growth is supplemented by increasing insights into the iPSC platform along with high throughput analysis for drug toxicity. The iPSC market in Asia-Pacific is estimated to post a fast growth due to increasing R&D projects across countries like Australia, Japan and Singapore.

Neuronal Cells Segment to Reach $336.9 Million by 2026In the global Neuronal Cells segment, USA, Canada, Japan, China and Europe will drive the 6.4% CAGR estimated for this segment. These regional markets accounting for a combined market size of US$202.9 Million in the year 2020 will reach a projected size of US$308 Million by the close of the analysis period. China will remain among the fastest growing in this cluster of regional markets. Led by countries such as Australia, India, and South Korea, the market in Asia-Pacific is forecast to reach US$19.8 Million by the year 2026. More

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Excerpt from:
Global Induced Pluripotent Stem Cell (iPSC) Market to Reach $2.3 Billion by 2026 - PRNewswire

After a year under the hatch, this summer 2021, glowing, luminous and radiant is the go-to gorgeous look that American women want !

For whatever face you have to show the world today, moisturizing oil replenishes your skin, repairing damage from UV and boosting your natural glow with an astonishing amount of benefits- which is formulated to re-energize your look as it tones and refines pores. Many viewers have asked my expert advice on the best ways to approach and achieve a dewy summer complexion that will leave skin luminously smooth on the path to corporate ascension during business hours as well as summer social activities.

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In the summer, I can simply suggest that less is more. Radiant glow is the way to go with a delicate added dose of a real-to-the-feel modified bronzer and a fresh coral blush. This season, in addition to eating fruits and vegetables. drink lots of water to replenish the skin. Be mindful to get in a sweaty cardio sesh to increase blood flow and that healthy look from within which ultimately surfaces in the face to improve skin texture and tone for a natural radiant complexion.

Protect your skin from the sun:

As I mentioned earlier, I know everyone just wants to get out and see the world again but you must take protection from the sun. Bronzing face drops is your answer to a bronzed face without the risks of sun exposure. Integrated into your skincare routine your tan can now be customizable, buildable, and most importantly, fake, without looking fake.

Exfoliation is essential for smoothskin. I recommend to exfoliate once or twice a week to remove deadskincells and leaveskin glowing. This season, a unique blend of supercharged ingredients have been expertly formulated to deeply moisturize and restore the skins natural balance, revealing a clear and radiant glow.

If you're looking for a moisturizer with a luminous finish, then read below where I have curated a Forbes list of super-hydrating product offerings infused withtechnicall advanced hyaluronic acidand pearl articlesthat blur, reflect, and enhance your complexion to make you look instantly more radiant than ever!

+ Lux Unfiltered:

For a natural color and glow.

+ Lux UnfilteredNo.12 Bronzing Face Drops is your answer to a bronzed face without the risks of sun exposure. N12 seamlessly integrates into your skincare routine without disrupting your process or products. It is fragrance-free, non-comedogenic, compatible with all skin types, and loaded with antioxidants. Your tan is now customizable, buildable, and most importantly, fake, without looking fake. Recommended to mix with your desired number of drops with your face moisturizer and apply to clean skin.$42

AbsoluteJOI:

The new Daily Hydrating Moisturizing Cream is the first of its kind, a nutrient-rich 2-in-1 tinted ... [+] moisturizer specifically crafted for women of color for everyday use.

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AbsoluteJOI-The new Daily Hydrating Moisturizing Cream is the first of its kind, a nutrient-rich 2-in-1 tinted moisturizer specifically crafted for women of color for everyday use. The Daily Hydrating Moisturizing Cream leaves no white cast a common problem for people with melanin-rich skin. $42.00

AJ Crimson Beauty:

AJC Universal Finishing Powder in Toasted Cinnamon

AJ Crimson Beauty-AJ Crimson Beauty's Universal Finishing Powders are perfect for all skin tones. Great to use to set your makeup for a Matte or Semi Matte Skin Finish. Can Be Used to set Foundation, Concealer, Contour, Highlight or Tattoo cover! Available in a range of colors including Neutral Matte, Bamboo, Rick Umber and Toasted Cinnamon. $35

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Beauty Bakerie:

Swatches of the Beauty Bakerie InstaBake Aqua Glass Foundation in Shades 301N to 325N.

Beauty BakerieBeauty Bakerie always makes strides to be inclusive towards people of color and provides a wide shade range for all skin tones. Lack of darker shades in complexion products is a huge issue in the cosmetics industry, and Beauty Bakerie brings a revolutionary shade range to the table with the InstaBake Aqua Glass Foundation. The shades are listed from Dark to Light to put darker complexions first. $34.00

Bespoke:

Luxury CBD, but affordable for every budget.

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Bespoke-Manuka Honey and Bespokes Potent CBD, infused in one amazing product with an astonishing amount of benefits. The Manuka Honey + CBD cream for hands and body offers you the healing benefits of Manuka honey, the inflammatory and pain support of CBD, plus the soothing, calming properties of menthol extract. Bespoke sources our Manuka honey from New Zealand. But not all Manuka is equal. We source only the purest honey with an Ultra Premium Grade Unique Manuka Factor (UMF) of 15+. Youre getting exceptionally high-quality Manuka along with the superior CBD youve come to trust Bespoke Extracts for. This topical treatment will enhance your skincare regimen. Use sparingly on sore, dry skin, or when experiencing muscle or joint pain. Manuka Honey + CBD Cream will nourish your skin and provide supportive care to soft tissues. $59

Circumference:

The gentle cleanser is powered by olive leaf extract, derived from byproduct harvested in California ... [+] that would otherwise go to waste.

Circumference-The second formula born from our Waste-Not Sourcing Initiative - this gentle, versatile cleanser is powered by upcycled olive leaves, in partnership with California-made, Brightland. Last fall, we approached the modern essentials pantry brand to take the byproduct - that have no use in the olive oil making process - and slow-extract for bioactive nutrients in our labs. After the process was complete and we got the formula just right, mulch was returned to us for the following seasons compost - completing the circular economy. $48

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CocoBaba:

CocoBaba Coconut Butter Mousse, Coconut Body Oil, and Coconut Oil Scrub.

CocoBaba- CocoBaba is the new all-natural, vegan skincare line for women founded by Emma Heming Willis. CocoBaba was originally conceptualized when Emma was pregnant with her first daughter and was in search for an all-natural coconut oil-based product line to nourish and soothe her skin but could not find one. After 4 years in the making, the brand finally launched earlier this year and while its targeted toward moms and moms-to-be, its great for anyone! As summer approaches and we spend more time outside, its time to pay extra attention to our skin and make sure its nourished and protected to maintain that beautiful summer glow all season long!

All CocoBaba products are made with pure, certified organic coconut oil, and are 100% vegan, dermatologically tested, and completely free of silicones, parabens, and mineral oils. The Coconut Butter Mousse is a natural, effective way to nourish skin with this whipped blend of coconut, chia, sunflower, and jojoba oil. The Coconut Body Oil is silky but never greasy, this natural beauty secret uses 100% raw certified organic coconut oil to lock in moisture. And finally, the Coconut Oil Scrub is an all-natural exfoliant made with real coconut husk and apple seed. $54.99

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EiR NYC:

Surf Mud Body Oil

EiR NYC-As with all EiR suncare products, Surf Mud Body Oil is made with 100% Reef Safe Ingredients. Surf Mud Body Oil is a tinted tanning oil with Antioxidant-rich hydrating oil combined with zinc and chocolate to deeply moisturize and increase blood flow to the skin, and enhance your bronze-y sun-kissed look.$35

Elaluz:

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Camila never leaves home without her All Day Beauty Water and neither should you keep your skin ... [+] glowing and give it a refreshing boost on-the-go all summer long!

laluz-When Elaluz founder Camila Coelho created The All Day Beauty Water she knew she wanted a versatile product she could use throughout the day to keep her skin glowing and nourished. Enriched with Brazilian superfood ingredients like Guarana & Papaya Extracts and Buriti & Bataua Oils, this instant skin boost is formulated to re-energize your look as it tones and refines pores. Use it before makeup to prep, post-application to set, or whenever you need an instant boost of radiance. $49 USD

Hey Dewy:

Get the cutest, facial humidifier today - your skin and hair will thank you for it.

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Hey Dewy- Bring this portable USB humidifier with you wherever you go for continual hydration at your desk for work, overnight while you sleep or on-the-go to your dream destination. You can also nourish your skin with Hey Dewy before, after or even during your beauty routine. Our portable facial humidifier is our flagship product that is the foundation of our brand and purpose. It serves as the conduit to wellness via water and humidification, as well as the means to giving 10% to Clean Water initiatives like The Water Project. $39

Hydra Bloom:

Moonshine Coconut Illuminizer helps bring out your inner glow by adding a gorgeous highlight to your ... [+] cheekbones, eyes and decolletage.

Hydra Bloom-This skin perfector suits all skin tones. Made with Coconut and natural shimmering minerals and Vitamin E and Australian Flower Essences this illuminizer will have you glowing. $28.00

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James Read Tan:

Tan Easy-to-apply and can be tailored to your liking perfect to achieve that faux post-vacation ... [+] tan while quarantining.

James Read Tan-Concentrated onthe-go multi-vitamin gel tanning drops that you can add to your SPF or moisturizer. Formulated with powerful antioxidants and Vitamin complexes combined with key anti-ageing skincare ingredients to gently brighten, smooth and tan your skin. Formulated to improve the skins natural defense against free radicals, stimulate collagen synthesis and gives you a natural looking glow. Enriched with Vitamin C, Hyaluronic Acid, Aloe Vera, Natural Caramel and self-tan for the ultimate glow.$33

Kura Skin:

Kura Skin

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Kura Skin-Kura Skin curates clean, personalized skincare routines just for you. Kura analyzes your age, location, existing product usage, skin types and concerns through a proprietary, high-tech algorithm to build your own skincare routine. Designed for all genders and ethnicities, you wont end up with a drawer full of samples youll never touch, or worse, a product that irritates your skin. Kura only curates nontoxic, cruelty-free, nutrient-dense, effective indie brands for healthy, glowing skin.Individual products starting at $28

lilah b.:

Moisturize, balance and prime with lilah b.s Aglow Priming Oil

lilah b. -A three-in-one serum, moisturizer, and primer that can be worn alone or under makeup creating a smooth, flawless canvas for long-wear makeup application. Aglow Priming Oil is a fast-absorbing, silicone-free priming face oil that nourishes and hydrates skin. Formulated with a nutrient-rich trio of tamanu, jojoba and sweet almond oils to soften, smooth and comfort the skin. Infused with grape seed extract to help improve skin firmness and reduce fine lines and wrinkles. Enriched with purple tea extract to improve skin texture and tone for a natural radiant complexion. The perfect dose of nourishment to prep skin with an effortless glowing finish. $68

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Luzern:

Hydrate, soothe and boost luminosity with Luzerns new Alpine Rose Glacial Serum Masque.

Luzern-Infused with precious Ruby Powder, stem cells from the treasured Alpine Rose, a proprietary peptide-ferment, and an abundance of moisture factors and nutrients, this unconventional nectar mask provides instant hydration and calm, leaving skin velvety soft, smooth, and luminous. $150

Madeca Derma:

Madeca Derma Revitalizing Overnight Sleeping Mask

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Madeca Derma-This supercharged night mask powered by propolis that helps skin recover overnight for a more youthful look by morning. $27.99

MAKE:

Gently yet effectively cleanses to remove impurities while hydrating and balancing

MAKE Succulent Skin Gream-This serum weight facial cleanser, is a pH-balanced, sulfate-free universal gel that gently cleanses skin, effectively removing dirt, oil and impurities without stripping the skin of essential moisture. Supercharged with amino acid enriched surfactants that preserve the skin barrier. Also formulated with prickly pear, cactus, agave, niacinamide and sodium hyaluronate to provide nutrients. $24

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Manna Kadar Cosmetics:

Light up your skin with an all over radiance with Sheer Glow

Manna Kadar Cosmetics-Manna Kadar Cosmetics shimmer lotion works with all skin tones. Mix with foundation, BB cream, or body lotion to create a dewy glow for that radiant and youthful look. Get that extra highlighter look applying to cheek bones and collar bones for a more pronounced look. $29

Miami Beach Bum:

Formulated with oregano, aloe and jojoba to give your skin a full reset.

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Miami Beach Bum To our marine scientist founder, self-care means being active and around water. After constantly being in wet bathing suits she developed folliculitis on her bum and was unable to find a natural solution for it. Using her chemistry background, Ayssa crafted our signature Bum + Body Cream with the mission of bringing skin health to the forefront of self-care. Now with a full collection, each product has become an essential part of Ayssas personal ritual and we hope they can become a part of everyone's unique self-care ritual as well. $45

natureofthings:

natureofthings Clarifying Facial Polish combines the purifying action of a cleanser with the ... [+] resurfacing and glow-enhancing benefits of an exfoliant.

natureofthingsClarifying Facial Polish combines the purifying action of a cleanser with the resurfacing and glow-enhancing benefits of an exfoliant. A few drops of water activate the powder into a paste (for a milder formulation, simply add more water). Nutrient-rich lava ash from the Korean island of Jeju and Kisameet Glacial Clay penetrate deep into the skin to draw out impurities and oil, unclog pores and promote overall tightness and tone. Salicylic acid, lactic acid and papaya enzyme work gently to slough off dead skin cells responsible for dull complexions and uneven texture. Colloidal oatmeal and olive oil powder soothe and moisturize. Skin looks smooth, refreshed, and primed to absorb any subsequent products. $65

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No, Thank You:

An Oil For All Day

No, Thank YouFor whatever face you have to show the world today, our moisturizing oil replenishes your skin, repairing damage from UV and boosting your natural glow. Use it as often as you like, as a little extra help to welcome all the different emotions and expressions you need to communicate every day. Our vitamin C perfectly encapsulates our approach to skincare, specifically our commitment to making sure every ingredient really earns its place in the bottle formula over fads if you will. Vitamin C is an amazing ingredient but that doesnt mean you can just add it to a product and call it a day. You have to think about quality, concentration and combination. We use a shelf-stable form of vitamin C, in the right amount (sometimes more isnt more), combined with CBD and other ingredients that enhance its effectiveness. Its a holistic approach to skincare formulation that has become the hallmark of NTY products. $85

Nourishe:

Nourishe Glowing Skin Serum

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Nourishe-This waterless, gentle facial oil to help balance breakout-prone and sensitive skin. The rich blend of 32 botanicals gives you a smooth, energized complexion, boosting skin's collagen production and elasticity at the same time. The product comes in biophotonic glass, with minimal plastic packaging to maintain potency. $24.50

Obagi Clinical:

Exfoliate, smooth and retexturize skin with the Obagi Clinical Blue Brilliance Triple Acid Peel

Obagi Clinical-This is a one-of-a-kind facial peel that combines three potent acids to exfoliate, smooth and retexturize the skin for a more radiant-looking complexion. This powerful, award-winning at-home peel utilizes the strength of salicylic, glycolic and lactic acids to help minimize the appearance of uneven skin, reveal a brighter-looking, more youthful look, and keep pores clean. The self-neutralizing at-home peel is a 2-month series and comes with four 8mL vials - one to be used every two weeks - for a gradual peel with no downtime. $145

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Obakki:

This gift set is the ultimate recipe for silky, moisturized skindeeply nourishes, restores, ... [+] soothes and helps lock in moisture. A definite favourite for all skin types.

ObakkiObakki is a purpose-led lifestyle brand that connects people through handcrafted products and artisan ware. The Moisturizing Gift Set in Earthy Scent features a deeply moisturizing trio set of Nilotica Shea Butter, Whipped Shea Lotion and the Obakki Organic Sugar Scrub. The Earthy Scent is an invigorating blend of cedar, ho wood, and grapefruit, and is a definite favourite for all skin types. All Obakki skincare products feature 100% all-natural ingredients and never contain palm oils, artificial fragrance or colourants, parabens, sulfates, or animal products. $76 USD

One Ocean Beauty:

To use, close eyes and spray hydrating mist all over the face 3 times a day

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See the original post here:
Here's How To Get The Perfect Summer Skin Glow In 2021 - Forbes

Keila Torres knew during a conference trip to Florida she was going to meet the woman who saved her life. What she didn't expect was to see someone so familiar.

Torres, 44,of Worcester, Massachusetts,desperately needed a bone marrow transplant in 2016, when she was 39, to beatacute myeloid leukemia, a cancerthat starts in the bone marrow but often moves into the blood.

A bone marrow transplant isa treatment option for people withblood cancers, such as leukemia, and it replacesunhealthy blood-forming cells with healthy ones from a donor, according to Be The Match, a nonprofit that pairs peoplewith a donor.

She had slightly less than a 50% chance, according to Be The Match. But she beat thoseodds, thanks to Palm Desert resident Odalis Trinidad.

When the two women met on June 23, Torreshad a realization. Her body had been changing since the transplant, and now it started to make sense.

"My blood type changed to Odalis blood type.I developed allergies after the transplant, and she has allergies," Torres said. "Her hair is long, beautiful and really curly, and when my hair started to grow back, it was very curly, very tight curls. When I saw her, I was like, 'Wow, that's why my hair is like that.'"

"You basically become your donor. She lives in me," she added.

Dr. Ayad Hamdan, a bone marrow transplant specialist and board certified hematologist with the Eisenhower Lucy Curci Cancer Center, explained that since new stem cells from adonor replace the stem cells in a patients bone marrow, which is the "factory of our blood cells," the patient will have the same blood type as the donor.

He added it is possible for patients to develop allergies, and"most patients who receive chemotherapy or a transplant have the experience that their hair may grow back with a different texture," but the hair follicles themselves don't change.

Not only do the two women share hair textures and occasionally stuffy noses, they're driven by their desire to inspire others to help those in need.

Most 19-year-oldsare focused on having good times with their friends, not necessarily providing life-saving donations.

Trinidadsaid she tried to donate blood as often as she could, even though the process was always a bit uncomfortable either her arm would stop pumping enough blood, or her arm would be too sensitive. During one of her visits, she noticed a poster for Be The Match and decided to do some more research.

The process to join the donor registryseemed "really easy" for Trinidad, now 24.She received a registration kit to give a swab of cheek cells and sent it back in October 2015. Then camethe waiting period.

"If you get called, you get called; if you don't, well, at least you tried, right?" the Palm Desert resident said.

People between the ages of 18 and 44 can join the Be The Match donor registry. Cells from younger donors have the best chance of successful donations, according to the Mayo Clinic.

Due to a lack of diversity on the donor registry, white patients have a better chance of finding a match on the registry than do people of other races. According to the site, African Americans have a 29% chance, Asians and Pacific Islanders 47%, Latinos 48%, Native Americans 60% and whites 79%.

In July 2015, Torres, 38 at the time, learned she was diagnosed with Stage 3 breast cancer. With two young sons, ages 15 months and 5 years old at the time, she knew she had to fight to be there for her boys. After chemotherapy, radiation, lymph node removal and a bilateral mastectomy, she was declared cancer-free a year later.

The good news, unfortunately, was spoiled in September 2016.

"I felt like I was fine. I was recovering, I was spending time with my kids, I was going to work, my hair was growing back and I felt great," Torres said. While undergoing a bone marrow biopsy, she was told "there was something wrong" with routine lab work.She remembered asking her oncologist, "What's the worst that could happen?"

"If we find leukemia," Torres recalled her oncologist saying. "When I heard leukemia, I was like, 'Oh,that's not going to be me, it's probably something else.'"

But the biopsy showed she hadacute myeloid leukemia. It isa common type of leukemia in adults, although it accounts for just 1% of all cancers,according to Cancer.org.It is also generally uncommon to find in people younger than 45. Torres was 39.

"I was in shock. I was devastated. I had already gone through so many things," Torres said, "but in the back of my head I was thinking, 'I've been through breast cancer, I can do this.'"

But the gravity of the situation didn't hit her until she met the leukemia team at Massachusetts General Hospital. Walking into one of the clinic rooms, she remembers feeling "very claustrophobic,"like she was "running out of breath."

Torres began chemotherapy atMassachusetts General, but to have a betterchance at beating leukemia, she would need a bone marrow transplant.

The two women had plenty in common even before the transplant,Torres said, almost as if Trinidad was always her"missing puzzle piece." They both have birthdays in October, mothers from Guatemala (Torres grew up there as well) and they're both mothers.

The best match for a bone marrow transplant is when a patient and donor'shuman leukocyte antigen closely match. HLA"is a marker on our stem cells thatdetermines how our immune system responds," explained Hamdan. Those markers are used by an individual's immune system to know which cells belong in the body and which ones don't, according to Be The Match.

Doctors first looked to Torres' brother to see if he was a match. Siblings have a one in four chance of being a match since half of an individual's HLA markers are inheritedfrom their mother and the other halffrom their father, according to Be The Match. About seven out of 10 people won't have a close match with a family member, as was thecase with Torres. That's when people look to thedonor registry.

After Trinidad completed her cheek swab in October 2015, she essentially forgot about it since she didn't hear back from the registry. She received a phone call a year later.

"'Hey, I don't know if you remember you signed up for this, but this is what we do and we're calling to let you know that you have a possibility of saving someone's life,'" Trinidad recalled hearing.The only information she was given was the person needing the donationwas a female, 40 years old (Torres turned 40 in October 2016) and the type of leukemia. Nothing more, not even a name.

So, yes or no? It wastime to decide.

"I called them (the next day to learn) what did I need to do, what did they need from meto make sure it could be successful," she said.

Trinidad had blood work and other tests done prior to donation day. Her family was very supportive of her decision to help save a life, she said, whileit was a bit "hard for my friends to be on board."

"We were all 19, so they were like, 'You're crazy, you don't even know them and you're going to have this whole surgery for them?'I was like, "Well, yeah, I can save someone's life,'" Trinidad recalled. "You would want someone to do it for you, so how could you not do it?"

On donation day, donorsare put undergeneral anesthesia and marrow cells are taken from the back of the pelvicbone.

"The donor lies face down, and a large needle is put through the skin and into the back of the hip bone. Its pushed through the bone to the center and the thick, liquid marrow is pulled out through the needle," according to Cancer.org.Around 10%, or 2 pints, of marrow are collected, and the procedure takes up to two hours. The donor's body replaces those cells within four to six weeks.

Trinidad described the day in December 2016 as "nerve-racking,"but not because of the giant needle.

"I know everything that they're doing to me, but I can't, I literally cannot, know her perspective, what she is going through, how it is going to get to her," she said. "During this whole procedure, I'm nervous, I'm thinking, 'I hope it works, I hope it works.'I'm a match, but her body might not (accept the cells)well. I want to be sure that I'm doing the best I can so that it's the best for her."

To begin the transplant process, a receiving patient must undergo a conditioning regimen, which includes chemotherapy and sometimes radiation, to "wipe out" their immune system and leukemia cells, according to Hamdan.On transplant day, also called Day Zero, patients receive the donated cells through a blood transfusion.From Day Zero onward, the donated cells grow and make new blood cells, which is called engraftment, according to Be The Match.

Torres, admitted to the hospital on Thanksgiving, had a week straight of chemotherapy. Day Zero, which she considers one of her birthdays and her "rebirth," was Dec. 2, 2016.

It's normal for patients to feel weak, and Torres remembers being "sick to my stomach" the first few days after the transfusion. But her red and white blood counts started growing, she said, and slowly started feeling better. She was released from the hospital on Dec. 23, just in time for the holidays.

Both women had played a big part in each other's lives, and yet they still didn't know anything about one another.

Transplant recipients and donors have to wait one year before they can have direct contact with each other in the United States, according to Be The Match.

"This could only work if both of us want to know," Trinidad said."It was hard because I wanted to know her recovery, I wanted to know if it worked. What if it didn't work and they just didn't tell me anything at all?"

By the time the one-year mark came, the two women were ready to know something, anything,about each other.

It was an instant connection, almost as if they had known each other their entire lives, they both said. Finallyconnected on Facebook, they could get a glimpse of the other's family and see what they were up to. They talked and texted whenever they could.

It wasn't until a few weeks after their initial contact that Torres revealed to Trinidad that doctorsfound leukemia once again in January 2018.Torres would have to go through the transplant process all over again, but this time witha different donor.

Hamdan explained: "Transplants are most of the time the only chance for patients to be cured, and although there is a good chance of success, the cancer can come back. (It) depends on the disease, the age of the patient, the type of transplant."

Torres still wouldn't change a thing.

"She gave me life the first time around. I was able to come home and be with my kids for a year," Torres said. "Even if I had relapsed or not, Im so grateful for her for doing an act of kindness. At 20,Iwasnt thinking about stuff like that."

Trinidad, now a mother herself to3-month-old son Jimmy,said having her own child put thedonation into a whole new perspective.

"I really just am happy to give her that time with her kids. I now know how important and valued that time is," she said.

But thatwasn't the end of the journey.

They both had meeting each other in-person on their bucket lists, and when an opportunity came at aHOSA Future Health Professionals convention last month in Orlando, Floridaboth said "it was meant to be."

Representatives from Be The Match reached out to the two women and asked if they'd want to share their story to the students attending the conference. Trinidad was also a member of HOSA when she attended Palm Springs High School.

After years of texting, calling and social media lurking, they hugged on stage at the conference for quite a long time, admitted Trinidad, and "neither of us wanted to let go." She describedthe moment as "surreal,"finally seeing "the life that I gave her."

And for Torres, to see the woman who went froman anonymous lifesaver to a dear friend and a bit of a look-alike,saying thank you in-personis a moment she'll never forget.

"Theres no way that Iwill ever be able to repay her because theres no price with what she did," Torres said. "Im think I'm still kind of digesting all the emotions that came with it, but the one thing I know isIm full of gratitude for what she did for me.

Trinidad hopes more people will join the donor registry "it's so easy," she reiterated and be there to answer the call if they end up being someone's best match.

"I'm a donor because I wanted to be one," Trinidad said. "I know it required me physically giving up some bone marrow, but itsaved someones life, and I would do it again."

Torres, too, can attest to that: "If it hadnt been for her the first time around, honestly I dont think Iwould be here."

HOW TO JOIN THE BE THE MATCH REGISTRY

Visithttps://bethematch.org/to learnhow to join the registry, request a cheek swab and what the next steps are if you're a match.

Ema Sasic covers health in the Coachella Valley. Reach her at ema.sasic@desertsun.com or on Twitter @ema_sasic.

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Palm Desert resident meets the woman whose life she saved with bone marrow transplant - Desert Sun

Stem cells are basically cells with the capacity to turn into different kinds of cells. These cells are used in the manufacture of blood, skin, heart, lungs, pancreas and a variety of other organs. They play an important role in organ transplants, tissue engineering and in the therapy of Parkinsons disease.

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In fact, stem cells harvested from the adult marrow have already helped treat some of these diseases. Scientists have succeeded in transplanting adult stem cells from the anogenital area of the male reproductive organ to patients with chronic diseases like Parkinsons disease, a disease that affects both the nervous and the cardiac systems. This procedure has proven to be very effective in treating the disease since it stimulates the production of the living cells in the diseased area. Since adult stem cells could help treat Parkinsons disease, the researchers tested their idea in animals and succeeded. Stem cells from the adult bone marrow have also shown great potential in treating diseases like arthritis, psoriasis and multiple sclerosis.

Market Dynamics

High prevalence of chronic disorders is expected to propel growth of the global stem cells market. For instance, according to the study, Prevalence of Parkinsons disease (PD) across North America, published in July 2018 in the journal Nature, the number of people suffering from PD is expected to reach 930,000 in 2020 and 1,238,000 in 2030.

R&D in stem cells is expected to offer lucrative growth opportunities for players in the global stem cells market. For instance, in December 2020, researchers from the Wake Forest Institute for Regenerative Medicine demonstrated that stem cells found in amniotic fluid meet an essential test increasing their likelihood of becoming specialized cell types.

Competitive Analysis

Major players operating in the global stem cells market include, Advanced Cell Technology, Inc., Angel Biotechnology Holdings PLC, Bioheart Inc., Lineage Cell Therapeutics., BrainStorm Cell Therapeutics, Inc., California Stem Cell Inc., Global Stem Cells Group, Celgene Corporation, Takara Bio Europe AB, Cellular Engineering Technologies, Cytori Therapeutics Inc., Osiris Therapeutics, and STEMCELL Technologies Inc.

Major players operating in the global stem cells market are focused on adopting M&A strategies to enhance their market share. For instance, in October 2020, Global Stem Cells Group signed an agreement with Bioscience Cell Factory, a Dubai-based healthcare company, which will allow GSCG to act as their representatives operating in both the Middle East and Latin America.

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Regional Market Analysis

Segment Market Analysis (by Type)

Segment Market Analysis (by Application)

Major Manufacturers Analysis

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Stem Cells Market 2021: Rising with Immense Development Trends across the Globe by 2027 The Manomet Current - The Manomet Current

A year before the pandemic, I was diagnosed with a condition called mast cell activation syndrome (MCAS). A hallmark of the syndrome is hypersensitivities in more than one organ system: Food and other triggers can give me abdominal pain and severe diarrhea; my nose swells and I sneeze and wheeze. That sounds like allergies, but I've never tested positive on an allergy test.

Mast cells are among the immune system's first line of defense. They are abundant in the parts of the body that have close contact with the outside world, including the skin, airways, and intestines. Mast cells gone wrong cause allergic symptoms, secreting histamine and giving us itchy eyes, hives, and rashes. Less well understood is their role in modulating the responses of other immune cells. Before the pandemic, researchers had suggested that mast cell dysfunction could explain severe cases of the flu and highlighted the cells' role in shutting down inflammation in a variety of situations. In my case, probably because of a genetic peculiarity, my mast cells overreact.

I was fairly stable on my medication, and then I became sick with Covid-19. Months after the virus had passed and I no longer had pneumonia, I was still fighting fatigue and breathlessness. My symptoms also flared up erratically. On some mornings, for example, the oatmeal I had relied on for years could cause me abdominal pain. "Once the mast cell response is turned up, it doesn't wind down just because the infection is gone," explained my doctor, Leo Galland, a New York internist who specializes in difficult cases.

MCAS often seems to first emerge after a virus. Could it explain any of the symptoms of the growing group of patients with long Covid? Congress has now dedicated more than a billion dollars towards research into why so many post-Covid patients roughly a quarter, more often women still feel ill long after their infection. In Facebook groups and elsewhere, people with plausible symptoms for instance, severe lingering rashes and months of hives have been trading information about remedies for the disease. Severe fatigue after exercise suggested myalgic encephalomyelitis/chronic fatigue syndrome, which some say is linked to MCAS. Others became lightheaded when they stood up, which might mean they had postural orthostatic tachycardia syndrome (POTS). Spend an hour searching online, and you'll find papers saying POTS, too, may be a manifestation of MCAS.

But getting a workup for the syndrome can be a long ordeal. The full range of tests and treatments aren't routinely covered by insurance, leaving some patients to pay thousands of dollars out of pocket. Before you get there, you need to find a sympathetic doctor: Researchers don't agree on whether the illness is rare, or quite common.

I was lucky; Galland took me on in the 1980s. Long before the microbiome became a news item, he diagnosed me with intestinal dysbiosis a disturbed gut. We don't know why I got sick when I did, but when I showed up in Galland's office, I was a young woman on an absurdly limited diet with a myriad of fluctuating symptoms. On a trip to Tucson, as just one example, my face and arms ballooned, and then shrank on the plane home. I had been exposed to a fungus in the desert. My grandmother commiserated; when her face swelled up, her doctors in Antwerp, in the 1930s, pulled out all of her teeth. She had no explanation.

Interestingly, disturbances in the gut may be linked to severe Covid-19, and correcting them a possible path to health for long Covid sufferers. Mast cells may have a unique role in communicating with gut bacteria. In midlife, I fit the profile for irritable bowel syndrome (IBS), the abdominal pain, often accompanied by diarrhea or constipation, that afflicts as much as 20 percent of the population, and often sets in after a virus. Desperate, in 2018, I had just completed a trial of hypnotherapy for IBS when my digestion took an embarrassing turn, with accidents in taxis, and I could no longer eat outside my home.

A new dietician, Tamara Duker Freuman, author of "The Bloated Belly Whisperer," helped me identify the worst offenders: foods that are high in histamine, which can be found in everything from alcohol to avocados. After further testing, Galland put me on a regime: an arsenal of mast cell modulators and anti-histamines, including Pepcid, which also blocks histamine.

And I got better.

* * *

Mast cells were first named in 1878 by a German-Jewish Nobel Prize winner, Paul Ehrlich, a father of modern immunology who is most famous for discovering the cure for syphilis. At the turn of the century, scientists discovered anaphylaxis, the classic mast cell allergic reaction. The word comes from the Greek ana (against) and phylaxis (protection). The idea that an immune response could actually hurt us, rather than protect us, came as shock. Current research about the gut and immunity may change the paradigm again.

Five decades later, in 1949, scientists described a rare genetic disorder called mastocytosis, in which mast cells produce clones, building up in the skin, bones, and other organs. It wasn't until the 1980s that researchers began to notice that mast cells could become hyper-responsive or over-activated without cloning.

On a separate track, since the 1990s, researchers have explored mast cell activity in IBS. (A clinical trial of Pepcid and Zyrtec for difficult IBS cases is currently underway at the University of Cincinnati.) Kyle Staller, director of the Gastrointestinal Motility Laboratory at Massachusetts General Hospital, now sometimes prescribes Pepcid if he sees other signs like hives, to patients who ask him to consider a histamine or MCAS issue. "I think anyone who's been following the science closely has to start wondering, 'How much could this be playing a role in that IBS patient who's in front of us on a given day?'" he told me.

Competing proposals for diagnostic criteria emerged after 2010. Both proposals say that doctors should rule out other explanations for a person's symptoms, and that symptoms should appear in a least two organ systems (in my case, it affects my gut, nose, and skin). Both proposals require lab tests but they disagree on which tests are necessary, and on the ranges that would indicate someone has MCAS, as well as other details. Because lab results are elusive, Galland and some other doctors rely on a medical history instead.

The disagreement has led to two camps. In camp one, the condition is rare; in camp two, it occurs in up to 17 percent of the adult population. Specialists in camp one say patients are misled: "More and more patients are informed that they may have [mast cell activation syndrome] without completing a thorough medical evaluation," an international group of 24 authors, led by Peter Valent, a hematologist and stem cell researcher at the Medical University of Vienna, wrote in April 2019 in the Journal of Allergy and Clinical Immunology.

A year later, a largely American group of 43 authors led by Lawrence Afrin, one of the earliest mast cell activation researchers, countered in the journal Diagnosis that patients are suffering and even dying from underdiagnosis. By then the pandemic had arrived, and Afrin suggested that some patients with long Covid might be experiencing MCAS.

Patients were seeing links as well. For example, the distinct POTS symptom of extreme lightheadedness, once often dismissed as a problem of anxious young women, emerged as one of the odder long Covid symptoms. POTS, which has been reported by patients who experienced Lyme and other infections, may involve histamine and several other chemicals released by mast cells. It is known to overlap with MCAS.

Last fall, when the Centers for Disease Control and Prevention reported on what it labeled multisystem inflammatory syndrome (MIS), the name rang bells: MCAS is clearly a multi-system inflammatory syndrome. Theoharis Theoharides, a professor of immunology at Tufts University who has studied mast cells for more than 40 years, wrote that MIS patients should be evaluated for MCAS.

Mariana Castells, director of the Mastocytosis Center at Brigham and Women's Hospital in Boston, told me in an email that she's seen no data showing that long Covid patients have the requisite diagnostic markers of MCAS.

Observers agree that the long Covid group probably includes people with different vulnerabilities. It would be marvelous indeed, if, one day, we found a single powerful concept to understand post-viral illness.

In the meantime, you might not need to fit either group's criteria for MCAS, a difficult and chronic illness, to experience your mast cells' betraying you sometimes. "Like many, many conditions, over time we [may] learn that there's a spectrum of disease," Staller said. "It's not an all or nothing phenomenon."

Even the group that sees MCAS as rare acknowledges the existence of a less severe form of mast cell activation that does not meet MCAS criteria. Theoharides has detailed several categories of the illness. He told me that he'd guess half of patients diagnosed with IBS might have mast cell activation of some kind.

If mast cell dysfunction is truly common, I trust the online buzz to help us find out. Crowdsourcing on patient forums is here to stay. And it's good, after all, that sick people shared information, found support, and made long Covid a "thing" with ontological status.

Growing up, I had wondered if my grandmother's multiple "allergies" were real. We didn't laugh, but we didn't exactly believe her. Then it happened to me.

* * *

Temma Ehrenfeld is a writer and ghostwriter in New York drawn to philosophy and psychiatry. Her most recent book is "Morgan: The Wizard of Kew Gardens."

This article was originally published on Undark. Read the original article.

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Immune system mutiny: mast cells and the mystery of long COVID - Salon

An immunotherapy based on supercharging the immune system's natural killer cells has been effective in treating patients with recurrent leukemia and other difficult to treat blood cancers. Now, researchers at Washington University School of Medicine in St. Louis have shown in preclinical studies conducted in mice and human cells that this type of cell-based immunotherapy also could be effective against solid tumors, starting with melanoma, a type of skin cancer that can be deadly if not caught early.

The study is published June 29 inClinical Cancer Research, a journal of the American Association for Cancer Research.

In recent years, an immunotherapy called immune checkpoint inhibitors has revolutionized treatment for advanced melanoma. In one well-known example, this immunotherapy was successfully used to treat former President Jimmy Carter, whose melanoma had spread to his liver and brain.

But the therapy only works in about half of such patients. And even among those who respond well to the initial therapy, about half go on to develop resistance to it. Consequently, researchers have been seeking different ways to harness the immune system to attack melanoma cells. One possibility is to use natural killer (NK) cells, a part of the immune system's first line of defense against dangerous cells, whether cancer cells or invading bacteria.

Todd A. Fehniger, MD, PhD, a professor of medicine, and his team have had success in clinical trials treating recurrent leukemia with a patient's own natural killer cells or those from a donor. The NK cells are harvested from the patient's or a donor's blood and exposed to a set of chemical signals called cytokines that activate the cells and prime them to remember this activation. When these "cytokine-induced memory-like" NK cells are given to the patient, they are more potent in attacking the cancer because they already have been revved up, as Fehniger puts it.

"These 'revved-up' memory-like NK cells attack blood cancers quite well," said Fehniger, the study's co-senior author and an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine. "But relatively little work has been done on whether these cells can be used against solid tumors. This is an unmet need in solid tumor oncology. Our study provides proof of principle that memory-like NK cells respond better than normal NK cells against melanoma, and it serves as a stepping stone to a first-in-human clinical trial of these cells in advanced melanoma."

Added co-senior author Ryan C. Fields, MD, the Kim and Tim Eberlein Distinguished Professor of Surgical Oncology: "We hope this is also a step toward harnessing NK cells against multiple solid tumors. Melanoma was a good place to start because we know it responds to immune therapy. But because many patients don't respond or develop resistance, we felt that targeting a different aspect of the immune system was a promising strategy to pursue."

The standard checkpoint inhibitor immunotherapy that works well in some melanoma patients targets T cells, another type of immune cell that also frequently is harnessed against different forms of cancer. According to the researchers, patients who don't respond well or stop responding to the T cell-based standard therapy and have no other options would be good candidates for NK cell therapy.

The researchers studied human NK cells from both healthy people and from patients with melanoma and found that the cytokine-induced memory-like NK cells could effectively treat mice harboring human melanoma tumors. Tumors shrank to the point of being almost undetectable in many of the mice, and the memory-like NK cells prevented the tumors from returning in most cases for the duration of the 21-day experiment. While normal NK cells also reduced and controlled melanoma tumors, they did not do so to the same degree.

"We are currently designing a clinical trial to evaluate these NK cells in patients with advanced melanoma who have exhausted all other treatment options," Fehniger said. "We would like to investigate NK cells from a donor and, separately, a patient's own NK cells to see if the cytokine-induced memory-like NK cells offer an effective treatment option for patients with this aggressive skin cancer."

The NK cell-based immunotherapy is potentially safer than other cell-based immunotherapies because the NK cells do not trigger a cytokine storm, as is seen sometimes in CAR-T cell therapy, which often is used for blood cancers, nor do the NK cells cause graft-versus-host disease, which sometimes follows a stem cell transplant.

"Even 10 years ago, we had no effective therapies for advanced melanoma -- much like the lack of therapies for glioblastoma or advanced pancreatic cancer today," said Fields, a surgeon who treats patients at Siteman. "Checkpoint immunotherapy has revolutionized melanoma treatment, but we're still not satisfied with the 50% response rate. We want to do better, and this NK cell therapy is a promising approach. And in the future, we may be able to combine an NK cell-based therapy with checkpoint inhibition for an even better response."

Fehniger and his colleagues have worked with Washington University's Office of Technology Management to license the cytokine-induced memory-like NK cell technology to a company called Wugen. Fehniger is a co-founder of Wugen and serves on its scientific advisory board.

Reference:Marin ND, Krasnick BA, Becker-Hapak M, et al. Memory-like differentiation enhances NK cell responses to melanoma. Clin Cancer Res. 2021. doi: 10.1158/1078-0432.CCR-21-0851

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Cell-Based Immunotherapy May Be Effective Against Melanoma - Technology Networks

5 July 2021

It is becoming clear that our gene functions are influenced by a variety of epigeneticfactors throughout our lives and even before we are conceived. Environmental context may affect gene expression and which genes are 'activated' or not in children conceived via IVFmay be influenced by the dietary and lifestyle habits of an embryo's parents or grandparents, as well as by the culture medium in which eggs and embryos are kept in vitro. These findings have implications for the way we think about fertility, assisted reproduction, and genetic identity.

Epigenetics and bioethics of human embryonic development is a multidisciplinary project that spans disciplinary boundaries in order to better understand how scientists, clinicians, patients, and society should respond to these challenges. The project is funded by the University of Oslo Life Sciences, as part of its convergence environments initiative which has seeninterdisciplinary research groups formed to address major health and environmental challenges faced. The project started in 2017, and is now drawing towards its close. Here, three of our project members explain their work within the project.

Trine Skuland is a developmental biologist who works on epigenetic regulation of early embryo development.

When an egg and a sperm unite to form a zygote, numerous events need to be coordinated in order to achieve successful development. Out of the ~30,000 human genes, the right selection has to be switched on/off at the appropriate time point. No wonder these events are error-prone!

Upon fertilisation, extensive reprogramming happens in order to reset the epigenetic marks of the egg and the sperm DNA, and to set up a new pattern that is compatible with further embryo development. Epigenetic marks are chemical groups that are attached either to the DNA itself or to the proteins the DNA wraps around inside the cell nucleus. The pattern of these epigenetic marks will decide whether genes are activated or silenced.

When an embryo reaches the eight-cell stage, one of the most critical events takes place. This is when the first major set of genes is activated. My team is currently studying one specific epigenetic mark that we think is important for the embryonic genome activation and we hope our research will contribute in further characterisation of epigenetic factors involved in this crucial part of embryo development.

Our aim is to find another piece of the big genome activation puzzle in order to get a more complete picture of what is necessary for normal embryo development. This is as more than half of the embryos created during assisted reproduction develop abnormally and have to be discarded. Our ultimate goal is giving infertile people higher quality embryos to increase their chances of becoming parents.

Birgit Kvernflaten is a medical anthropologist who looks at prospective parents' experiences of assisted reproductive technologies.

My role in the project is to explore prospective parents' experiences and perspectives of practices and treatments used in assisted reproduction.It starts from the idea that their experiences do not take place in a vacuum, but are shaped within a particular socio-cultural and political context. The project further aims to explore and understand prospective parents' experiences and perceptions of the status of the embryo, embryo donation, research, and selection, in light of increased epigenetic knowledge.

This project has highlighted how prospective parents' experiences of infertility treatment are related to and shaped by social and cultural discourses on Norwegian family life.

In Norway, biological or genetic ties are considered central to people's understanding of kinship and identity, shaping couples' negotiations about gamete donation, family, relationships, and responsibilities. Yet people's understanding of genes is also ambiguous. As for the concept of epigenetics; it seems it has not yet entered the public's imagination.

Although the role of environmental factors in shaping who we are is acknowledged in Norwegian society, couples tend to view genetics in a rather deterministic way, in that they believe it shapes both looks, personality, and risk of disease. While difficult to truly grasp, the role of genetics is central to people's ideas about reproduction and parenthood. New epigenetic knowledge raises questions about the interface between nature and nurture, as well as opening up discussion related to the role mothers and their bodies play in determining the health of future offspring.

Joona Rsnenis a bioethicist who works on the philosophical and ethical implications of epigenetics.

Epigenetics raises challenging ethical issues throughout the human life cycle. Epigenetic transmission from one generation to the next may raise questions of moral responsibility of parents and grandparents. Epigenetics plays an important role in a range of chronic diseases, such as diabetes. Our lifestyle habits during pregnancy and even before, may influence whether our future children will live healthy lives or suffer from lifelong illness.

It is commonly known that we should eat healthily for our own sake, but these developments in our understanding of epigenetic could imply that we should eat healthily for the sake of our future children as well. Does this demand too much of future parents?

Epigenetics seems to put prospective parents under pressure since they would be partly responsible for their future child's health even before the child is conceived. Pregnant women are often advised to abstain from alcohol and tobacco, but maybe it is worth reminding them to eat healthily as well and this advice applies not only to future mothers, but to prospective fathers too, since epigenetic inheritance occurs through the male germline as well.

Conclusion

The interplay between science, anthropology, and philosophy in the context of epigenetics is complex.Skuland notes that a key aim for scientists working to unravel the epigenetic mechanisms involved in early embryo development, is to fulfil the needs of IVF patients to have their 'own' child. Dr Kvernflaten shows how genetics is central to patients' ideas about kinship and identity, yet epigenetics is still something unfamiliar to most prospective parents. Rsnen's example suggests that if parents did take on board some of the moral implications of epigenetics, they might find that the scope of their responsibility for future offspring is dramatically expanded.

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Epigenetics and bioethics of human embryonic development: a birds' eye perspective - BioNews

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Harappan seals, pottery, figurines and animal bones reveal many real and mythical animalsdog, tiger, birds, wild ass, unicorn, humped bull, elephant, rhinoceros, water buffalo, short-horned humpless bull, goat, antelope, crocodile and harebut not horse, one-humped camel or donkey. The horse appears in the subcontinent after the collapse of the Harappan Civilization. It likely arrived in numbers along with the Aryans from Central Asia, a horse-riding nomadicpastoralist people with perhaps some knowledge of crops. What also accompanied them was their language and religion: proto-Sanskrit, proto-Vedas and Vedic godsmostly male gods, such as Indra, Agni, Mitra, Varuna, Rudra and Surya, and a few female gods, such as Usha and Prithvi. They used iron, revered fire and the cow (though they also slaughtered it and ate beef), and preferred cremating the dead. By the time these Aryan herders entered the subcontinentin the middle centuries of the second millennium BCEurban Harappans had largely dissolved into rural life.

Notably, the Vedic lore of the Aryans mentions defensive armour, weapons, chariots and warfare against dark-skinned foes named Dasas. But the Dasas were not Harappans, who no longer lived in fortified cities by the time the Aryans reached the Indus Valley. Based on the styles of Dasa forts described in the Rig Veda, Parpola and others have argued that the Dasas were proto-Sakas, a pastoralist group of the Central Asian steppes, and the major fights between the Aryans and the Dasas probably took place not in the Indus Valley but in the Indo-Iranian borderlands, en route to the Indus Valley. Nor does the description of the Saraswati River in the Rig Veda fit the Ghaggar-Hakra River that dried up c. 2000 BCE, and instead maps on to the river called Haraxvaiti (in Avestan) or Harahuvati (in Old Persian), which is very likely the Arghandab River, or less likely the Helmand River, both in modern Afghanistan.

After the arrival of the Aryans to the Indus Valley, the locals (rural descendants of the Harappans) probably saw them as an aggressive bunch and their encounters were likely not all peaceful. One indicator of this is the very skewed genetic footprint of the Aryan male in later populations, despite the fact that, like all migrating groups, they had come with entire families. According to a scientific study in 2017, Genetic influx from Central Asia in the Bronze Age was strongly male-driven, consistent with the patriarchal, patrilocal and patrilineal social structure attributed to the inferred pastoralist early Indo-European society. Further, while archaeologists havent found any telltale signs of war or invasion, its reasonable to expect that the locals would have initially resisted the imposition of the Aryan language, religion and culture, since thats how such encounters usually play out.

Also read: Indias native horses disappeared by 8000 BC. But Rig Veda mentions them more than the cow

The Aryans also brought with them a form of social hierarchy with priests at the topa proto-varna system without endogamy (i.e., marrying only within a specific social group). They had no linguistic script and the need for it was reduced due to the lack of an urban civilization. The priests may also have impeded the rise of a script that might have democratized their oral chants and deflated their esoteric powers. Notably, such instincts seem alien to the Harappan ethos, given the ubiquity of the artefacts with their script on them. For instance, their script often appears as graffiti-like scribbles on stone blocks in non-elite parts of Dholavira, and as messages stamped on pottery items used by ordinary people (possibly brand or ownership details?).

After a millennium of mixing and migration in the subcontinent, numerous sites arose in the Gangetic Plain, whose settlers had learnt to fire a more durable and sophisticated series of ceramics known as painted gray ware (PGW), writes historian Sudipta Sen. They evolved social formations in which clans, lineages, and tribes began to yield to new ruling councils and kings. From this came new urban life, hybrid cultures, languages, pantheons and religio-spiritual ideas that we now associate with mid-first millennium BCE India. These developments had strong contributions from both the Aryan and the Harappan substrates. New political and social conflicts en route also seem to have inspired many of the stories in the great epic Mahabharata.

Could the Harappan social hierarchy have included endogamy based on occupation, i.e., a proto-caste system? Did a hereditary group of manual scavengers clean the sullage jars of Dholavira homes? Current archaeology and genetics consider this unlikely (more ancient DNA analysis of Harappans may provide conclusive evidence). Scientists trace the earliest instances of endogamy to the first millennium BCE, probably more than a millennium after the Aryan migration into the subcontinent; mixing of populations was the norm until then. Thereafter, mixing coexisted with a few groups practicing endogamy, which eventually led to a more widely endogamous caste system.

But can we say which cultural substratethe Aryan or the Harappandrove the creation of the caste system? A strong clue comes from the fact that Aryan genes register far more strongly in the higher castes, who are also lighter skinned on average. Further, DNA evidence has shown that endogamy first appeared and became the norm among upper castes and Indo-European speakers. Indeed, as many scholars have long argued, the roots of the Indian caste system almost certainly trace back to the Aryan substrate.

Also read: Was Harappa wet or arid? Rhinos hold a clue

Further, patriarchal practices like Sati, too, appear to be a legacy of the Aryan substrate. Satis earliest noted occurrence in India dates to the fourth century BCE, as recorded by two first-century-BCE writers, Diodorus Siculus and Strabo. Though now mostly associated with India, sati also occurred back then in the Near East and Europe, among descendants of earlier migrants of the root proto-Indo-European culture, the Yamnayaalso the parent culture of the Indo-Aryans. In the fifth century BCE, Greek historian Herodotus wrote about a Thracian tribe where the most beloved wife of a dead husbanddeemed so by family and friends, and intended to be a coveted honourwas sacrificed and buried with him.

A century later, the Thracian wife of Philip II, father of Alexander the Great, was burned on her husbands funeral pyre, as per the custom of her people. In the first century CE, Roman historian Tacitus observed that in a Germanic tribe (descended from the Yamnaya), the wife refused to survive her husband, but killed herself in order to be burnt on the same funeral pyre as him. He noted that many other tribes disliked widow remarriage. In the tenth century CE, Arab historian Al Masudi noted sati among Slavic and Russian tribes (also descended from the Yamnaya) in the Caucasus region and in India. Such funerary customs have a distinctly patriarchal script. Theyre qualitatively different from those of ancient Egyptians, where servants were sometimes sacrificed and buried with an important man. Sati was likely alien to the Harappans, but in the mixed culture that arose later, it gained a foothold among the warrior elites and became part of the Indo- Aryan cultural legacy in the subcontinent.

In the last decades of the twentieth century, however, cultural chauvinism reared its ugly head in the scholarship of Indian prehistory. A host of Hindu nationalists and motivated scholars (almost entirely brown or white Hindu men) began championing an alternative view of the Aryan migration, arguing that there was no Aryan migration at all! That the Aryans and the Harappans were one people, both fully indigenous. They claimed that the proto-Indo-European language family, of which Sanskrit is a part, was created by these indigenous folks and taken to the westthe Out of India Theory (OIT). This also implied that the Harappans spoke proto-Sanskrit and codified it in their as-yet-undeciphered script, that they composed the Rig Veda, which describes their own fortified cities like Dholavira. Such bogus scholarship, as is now amply clear, has fed hordes of middlebrow Hindutva ideologues since the 1980s. Armed with little knowledge and misplaced pride, well-heeled urban Hindus began to confidently assert that the Aryan Migration Theory was discredited. Countless websites carry this fake news.

In fact, the controversy about Aryan migration was never an honest disagreement among scholars. Parpola, for instance, has long considered it impossible that the Vedic Aryans were indigenous to South Asia. The massive weight of evidence from linguistics, philology, and archaeologythough it had gaps that its rivals tried to exploit has long favoured whats now being proven or refined by population archaeogenetics, a field whose impact on ancient history may end up being as significant as radiocarbon dating (1949).

The OIT was motivated by bad politics rather than by good scholarship.

This excerpt from Indians: A Brief History Of A Civilization by Namit Arora has been published with permission from Penguin Random House India.

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Aryans or HarappansWho drove the creation of caste system? DNA holds a clue - ThePrint

CONSERVATIONISTS at Dudley Zoo and Castle are playing a major role in helping to secure the future of endangered black lemurs.

Senior figures at the Castle Hill attraction have been managing the European Endangered Species Programme for black lemurs for almost two decades, first overseen by zoo director Derek Grove before curator Richard Brown took over the reins in 2015.

But Richard is now not just the co-ordinator of the entire European captive population, but hes also overseeing the International Studbook and studying the genetic make-up of captive black lemurs as far afield as America and Japan.

He said: Its really exciting to have a bigger gene pool of the captive black lemur population to work with.

Im now overseeing 350 black lemurs in more than 75 collections worldwide, studying their genetics and making recommendations about which of these lemurs are suitable for exchanges or breeding.

Zoo registrar Nicola Wright has also been helping with the Studbook and collates details of all births, deaths and transfers within collections as well as identifying surplus animals.

Richard added: Its crucial for the survival of the species that we keep the gene pool viable, so we have to get the genetics right when matching pairs together.

We have to identify who is genetically closely related, to avoid in-breeding and prevent any defects.

Its a really interesting task and hopefully the new role may also open up the potential for us here at DZC working with Japanese zoos in the future.

Lemurs can live up to 30 years in captivity and, on average, they make between one and two moves throughout their lifetime.

The zoo has a breeding pair, Florence and Bryan, and their three-year-old offspring, Jimmy.

Ten-year-old Florence moved to Dudley in 2016 from Bioparc Fuengirola in Spain, while, Bryan, aged 15, relocated to the Midlands from Luxembourg in 2009 after originally being born in France.

The pairs first offspring, daughter Kimmy, who was born at DZC in 2017 and was the zoos first black lemur birth in a decade, was moved to Planckendael Zoo in Belgium in 2019 after Richard successfully matched her to a male there.

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Dudley Zoo staff are part of global effort to protect endangered black lemurs - Dudley News

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Multiple myeloma scientists at the Mayo Clinic are investigating a possible innovative chimeric antigen receptor-T cell treatment (CAR-T cell treatment) called antigen receptor therapy. Their results have been authored in the Lancet on June 24.

According to Yi Lin, M.D., a refer researcher at the Mayo Clinic, CAR-T cell treatment is a form of immunotherapeutic that harnesses the authority of an individuals own immune response by designing their T cells to recognise and kill the cancer cell.

Idecabtagenevicleucel, the first CAR-T cell therapy for numerous myeloma was first authorised by the Food and Drug Administration in March, according to Dr. Lin. In our ongoing work on a prospective CAR cell diagnosis for numerous myeloma Dr. Lin notes, Presently, we are going to work forward into some other prospective CAR cell therapy for numerous myeloma.

Dr. Lin says that CARTITUDE-1 research is a phase 1B/II clinical trial, the first of three enrollment trials. CAR-T cell treatment was evaluated in numerous myeloma patient populations who had done receive three or more lines of conventional drug treatment and who were still on proteasome inhibitors, immunostimulatory medications, and CD38 antibodies.

Cilta-cel is a singular injection created from the sufferers original T cells that were biologically modified explains Dr. Lin. According to Dr. Lin, the treatments total reaction percentage is 97 percent, with full remission & advancement life percentages of 67 percent & 77 percent, correspondingly. Ultimately, 89 percent of the people survived.

Notifications on the research are just given at American Society of Medical Oncology yearly conference, said Dr. Lin, this happened before our article is published in The Lancet. This ASCO report demonstrated that individuals getting this treatment had a continuing deeper responder, via an 80 percent full reaction frequency adds Dr. Lin. Those are outstanding findings in myeloma individuals who had previously had multiple rounds of treatment.

Dr. Lin believes that it would be critical in the future to fully comprehend the medical characteristics of individuals who have had sustained remissions on this medication, as well as the processes that cause individuals to revert.

Although official contrasts between 2 distinct study designs of ide-cel&cilta-cel cannot be made, Dr. Lin adds, the extremely overall responder rates and advancement patient survival administered with cilta-cel were extremely promising.

She warns, though, that turning this study into a therapeutic customised medicine would necessitate addressing a slew of technical problems particularly assuring that the transfer from study to retail venture is seamless.

The exorbitant expense of CAR T cell treatment is a major concern. The fact that CAR T cells must be custom-made for each patient is one of the key explanations for the increased cost. To overcome this problem, many scientists are currently attempting to generate off the shelf CAR T cells that are derived from donors and may be utilised to treat a wide range of sufferers. CAR T cells produced from allogeneic donors are one option.

Genome editing techniques can be used to remove the T cell receptors that may produce an allogeneic immune response. CAR T cells generated from iPS cells are another potential technique. Some studies have extensively successful in creating functioning T cells from iPS cells, which they are now attempting to employ as a source for CAR T cells.

Excerpt from:
The Possibility Of New CAR-T Cell Therapy For Multiple Myeloma - Powdersvillepost.com

Introduction

Fragile X syndrome (FXS), OMIM # 300624, is a X-linked inherited genetic disease classified as a triplet repeat condition. FXS is the most common cause of inherited intellectual disability and autism in the world. It has a prevalence of 1 in 5000 men and 1 in 8000 women. Affected individuals are characterized by intellectual disability, autism, language deficit, typical facies, and macroorchidism.1,2

Alterations in the FMR1 gene with locus Xq27.3 are causative of Fragile X Syndrome and other disorders. This gene harbors a CGG repeat within the 5 untranslated region and, depending on the number of repetitions, 4 types of alleles are defined with different clinical manifestations:3 Normal alleles, which have up to 44 CGG repeats; grey zone or intermediate alleles that contain between 45 and 54 repeats; premutation (PM) alleles with between 55 and 200 repeats; and full mutation (FM) alleles, with more than 200 repeats. In most cases, this is due to an expansion of the CGG triplet from one generation to the next.4

The Fragile Mental Retardation Protein (FMRP) is coded by the FMR1 gene. The absence of FMRP expression is usually secondary to the methylation of the FMR1 gene that occurs when more than 200 CGG repeats are present in the 5UTR region; this can also be explained by a point mutation in the coding region for FMR1 or a deletion that includes this gene, but these changes have only been reported in a few cases. The absence of FMRP is related to the classic FXS phenotype.5,6

FMRP expression is slightly lower in the carriers of a PM allele. Lower levels of FMRP are found particularly in the upper premutation (PM) range however, they typically do not present the classic FXS syndrome phenotype.7 Furthermore, they have elevated FMR1 mRNA levels between 2 to 8 times normal levels, which also leads to RNA toxicity. These elevated levels of mRNA are a risk for a number of medical conditions that are not explained by decreased FMRP.2,4,8

FMRP has roles in chromatin dynamics, RNA binding, mRNA transport, and mRNA translation9,10 and for certain subgroups of cerebral transcripts.11

This protein is involved in the regulation of RNA stability, subcellular transport and translation of neural mRNAs that codify proteins involved in synapsis development, neural plasticity and brain development.8

In addition, FMRP interacts with at least 180 proteins expressed in the brain and connective tissue. This interactome comprises known FMRP-binding proteins, including the ribosomal proteins FXR1P, NUFIP2, Caprin-1, and other novel FMRP-interacting candidate proteins located in different subcellular compartments, including CARF, LARP1, LEO1, NOG2, G3BP1, NONO, NPM1, SKIP, SND1, SQSTM1 and TRIM28. This interactome suggests that, besides its known functions, FMRP is involved in transcription, RNA metabolism, ribonucleoprotein stress granule formation, translation, DNA damage response, chromatin dynamics, cell cycle regulation, ribosome biogenesis, miRNA biogenesis and mitochondrial organization.9

Several studies have shown that in the absence of FMRP, a wide range of neural mRNAs are affected, boosting neural protein synthesis, which results in dendritic spine dysmorphogenesis and glutamate/GABA imbalance, which in turn produce variations in neural excitation/inhibition, phenomena that are present in FXS. Dendritic spine dysmorphogenesis plays a role in the intellectual deficits and behavioral problems, due to the weak synaptic connections found in this syndrome.12,13

Fragile X syndrome (FXS) has incomplete penetrance and variable expressivity and biological sex is a decisive factor of the phenotype. Full mutation of the FMR1 gene has a 100% penetrance of intellectual disability in males and 60% in females. Other characteristics associated with FXS Appear with varying frequencies in affected individuals. Autism spectrum disorder (ASD) symptoms appear during early childhood in 50% to 60% of males and 20% of females with FXS.1417

Physical features include elongated face, large and prominent ears (7578% of affected males), mandibular prognathism (80% of adult men), hyperlaxity and macroorchidism (95% of adult men). Other characteristics also vary in their frequency of presentation: seizures (23%), strabismus (8%), and cardiac abnormalities such as abnormal aortic root dimensions (18%) and mitral valve prolapse (55%). In general, the female phenotype is less severe and less specific.4,18

The variation in the phenotype of monogenic diseases is common,19,20 it is explained by a combination of genetic, environmental, and lifestyle factors,21 and FXS is not an exception.

Here, we present a review of the knowledge about the molecular factors involved in the variable expressivity of FXS.

The presence of a full mutation in FMR1 is associated with the hypermethylation of a CpG island located in the promoter of the FMR1 gene. Methylation of DNA regions (mDNA) is one of the main epigenetic modifications related to transcription regulation.22 A CpG island is located proximal to the CGG repeat tract, which is expanded in FXS. Hypermethylation of the CpG island generates transcriptional silencing of the FMR1 gene.23 As a consequence, the Fragile Mental Retardation Protein (FMRP), codified by the FMR1 gene, is not produced24 and in turn, the absence or low expression of FMRP causes FXS.

CGG tract repetition expansion in the untranslated region (UTR) of exon 1 in the FMR1 gene generates instability of that region during the replication process, inducing size mosaicism, which is defined as the presence of premutation and mutation alleles in several cells.25

In males with FXS caused by full mutation, the detection of FMR1 mRNA levels in peripheral blood lymphocytes is common. This phenomenon is due to both size mosaicism and mDNA in the CpG island and nearby regions that vary between cells and tissues.26 Furthermore, longitudinal studies in women with FXS have shown that levels of mRNA transcribed from FMR1 decrease significantly with age.23 Complicating even more the behavior of mDNA and FXS, it has been found that in premutation alleles, a considerable number of cells have mDNA.27 The variation between methylation states of the CpG island and nearby regions among different cells and tissue of the same person is known as methylation mosaicism.28 It is estimated that around 50% of people with FXS have this type of mosaicism.29 In cells where mutated alleles are not methylated, they are transcriptionally active and can be expressed.30 However, in these cells there is no FMRP synthesis since mRNA with CGG expansion greater than 200 repeats is not translated efficiently in ribosomes.31,32

The absence or low levels of FMRP is a decisive factor for FXS development, as several studies have aimed to discover the relationship between protein levels and phenotypic characteristics of the patients. Since the late 1990s, correlations between FMRP levels and the neurological phenotype of FXS have been established.29,33,34 The first studies about this topic established the standard levels of FMRP in peripheral blood leucocytes through immunoblotting. When comparing protein levels with the allele type and the presence of size mosaicism, it was demonstrated that people with the lowest FMRP levels were males with FM. Males with size mosaicism and females with FM had slightly higher levels of FMRP than males with FM.33,35,36 Via multiple regression models, it was found that FMRP levels were significantly correlated with the intelligence quotient (IQ) of the patients in the study.33 However, studies did not identify the same relation between FMRP levels and behavioral symptoms.34,37 More recent evidence supports a partial overlap between the pathogenic mechanisms that lead to FXS and ASD.38 Lower FMRP levels have been documented in samples of individuals with FXS and ASD compared to patients with FXS only.29,34 The relation between FMRP levels and IQ in males and females with different expansions in CGG repeats was studied recently.39 This last study has two important advantages compared with previous studies: firstly, the use of fluorescence resonance energy transfer (FRET), which has a higher sensibility when measuring protein levels, and also FMRP levels were measured in dermal fibroblasts. Unlike leucocytes, fibroblasts derive from the ectoderm, the same germ layer from which nervous system cells originate. Researchers found a strong and positive relation between FMRP levels and cognitive skills in patients with levels below 30% of the standard levels in controls. Interestingly, above this level, there was a higher dependence between low FMRP levels and low IQ.39

In parallel with the aforementioned studies, researchers reported the incidence of size and methylation mosaicism in cognitive impairment severity.4042 The classic definition of premutation alleles behavior as non-methylated alleles, and mutated alleles as methylated or partially methylated ones in order to categorize premutation carriers and patients with FXS has been extended progressively to include a detailed classification that takes into account the existence of size and methylation mosaicisms.

Regarding size mosaicisms, different combinations have been described, including patients with some FM cells and other cells with PM. Indeed, patients with FM, PM, grey zone alleles and even alleles with normal size have been reported.40 The presence of size mosaicisms with PM and FM alleles is related with a less severe phenotype and a higher risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS).43

When exploring the possible relation between size mosaicisms and the intellectual functioning of patients with FXS disregarding sex, it was found that patients with FM/PM had better intellectual functioning and less maladaptive behavior, compared with FM-affected individuals.42 Interestingly, the same study found that ASD features and maladaptive behaviors were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. A limitation of this study is that they used venous blood and real time PCR and Southern blot analysis to quantify the level of methylation.

Recently, methylation mosaicism has been taken into account as an important variable in phenotype traits. The most frequent mosaicism found in males is the presence of FM-methylated alleles and non-methylated FM and PM alleles (combination of size and methylation mosaicism).25,44 However, in patients with FM and not PM mosaicisms, methylated alleles do not express mRNA, while non-methylated alleles do. An aspect that highlights the importance of detecting the presence of this kind of mosaicism is the influence on phenotype severity. Additionally, according to some case reports, the presence of synthesized mRNA from PM and FM alleles increases the odds of developing the FXTAS phenotype.45,46 The final consequence of methylation mosaicism is the cells reduced ability to express FMR1 mRNA, measure mRNA and determine if there is a relation with phenotypic traits. When analyzing mRNA levels between males and females, it was found that females had higher levels. Also, in females, higher levels of FMR1 mRNA were related positively with age but not with intellectual functioning and autistic features. Males with FM that express FMR1 mRNA had significantly higher ADOS calibrated severity scores, when compared with males with fully methylated FM. Interestingly, no differences were found regarding intellectual functioning.41 Likewise, when contrasting FMR1 mRNA levels and scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CfX) it was found that in males with FM, higher values of FMR1 mRNA were related with elevated irritability and lower health-related quality of life scores.47 This association was not found in males with PM/FM, suggesting that for improved genotype/phenotype associations, it is essential to take into consideration not only sex but also size and methylation mosaicism.

Recent investigations explored simultaneously how FMR1 mRNA levels of FMRP are related to phenotypic alterations in males with PM and FM.48 In a study composed of 14 cases of patients with PM or PM and FM mosaicism and mental illnesses such as bipolar disorder, schizophrenia and psychosis, among others, low levels of FMRP and increased FMR1 mRNA were evident in these patients. This combination of characteristics in patients with FM, decreased FMRP, PM and increased FMR1 mRNA represents a dual mechanism of clinical significance that may generate characteristics of both FXS and FXTAS.48 In a clinic-based ascertained group of patients with FXS of both gender, a significant difference was found between FXS with ASD and low levels of FMRP when comparing concentrations of the protein in patients with FXS without ASD.29 They found that the mean full scale IQ and adaptive skills composite scores were significantly lower in males than in females (p = 0.016 and p = 0.001, respectively, MannWhitney). Additionally, all individuals with moderate or severe ID were males. Not surprisingly, ASD was present more frequently in males with FXS (46% vs 20% females). This association was not found in males with PM/FM, suggesting that for improved genotype/phenotype associations is essential to take into consideration not only sex but size and methylation mosaicism.29

There is a small proportion of FXS patients without expansions in the CGG-repeat tract. In this group, the condition is caused by missense or nonsense mutations,5,16 or deletions in FMR1.1,6 Patients with these mutations have similar physical, cognitive and behavioral characteristics to FXS patients. With the increasing availability of diagnostic methods based on next-generation sequencing and comparative genomic hybridization, a higher rate of diagnosis of mutations causing FMR1 function loss is expected. This will allow a clear delimitation of the phenotype caused by the loss of the protein in the absence of CGG tract expansions.

For many monogenic diseases it is known that, besides the allelic variance, the effect of modifier genes has an important role in incomplete penetrance and variable expressivity. The identification of modifier genes that affect the phenotype in monogenic diseases has many challenges that complicate their description. A genetic variant can modify the effect in the phenotype of another variant in many ways, including epistasis and genetic interactions.49,50

In studies using FXS murine models, important new evidence was acquired in order to establish the importance of potential modifier genes and their impact on FXS phenotype development. The knockout mouse model for FXS was generated in the last decade of the XX century. Fmr1 KO mice had learning deficits, abnormal synaptic connections, seizures, hyperactivity and macroorchidism.51,52 When describing the mouse phenotype in detail, it was evident that abnormal phenotypic characteristics depend, at least in some proportion, on their genetic background.53

During the identification of modifier genes in the FXS phenotype, a large proportion of the research has aimed towards the susceptibility to developing certain clinical behavioral characteristics, such as aggression, ASD and seizures.34,5459 All of the studies use a similar methodological design: they arrange groups of people with or without a specific phenotypic trait and establish the frequency of specific variants in modifier gene candidates.

The possibility that Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene may modulate the epilepsy phenotype in FXS patients has also been investigated. The replacement of a methionine for a valine in the 66th position of the BDNF protein interferes with normal intracellular traffic and BDNF dependent secretory activity in cortical neurons.60 This polymorphism has been related to cerebral anatomy alterations61 and neuropsychiatric disorders.62,63 In a sample of 27 males with FXS from Finland, it was found that all the patients with epilepsy (15%) had the Met66 allele, whereas the prevalence of this allele is 20% in the normal population. Research suggests that the Met66 allele in BDNF interacting with FM in FMR1 may partially explain the higher incidence of seizures in patients with FXS.56 In a more recent study with a higher number of males with FXS (77 patients), the results were not replicated and there was no association between seizures and Val66Met polymorphism.58 These results show the importance of validating studies about modifier genes in different populations.

In research about genes that affect mood and aggression, such as the serotonin transporter (5-HTTLPR), the monoamine oxidase A (MAOA-VNTR) and COMT, conflicting results were found. All of those genes are involved in regulatory pathways for different neurotransmitters, and their variants have been associated with the development of behavioral phenotypes in different contexts other than FXS. In one group of 50 males with FXS, the relationship of 5-HTTLPR and MAOA-VNTR polymorphisms with the frequency/severity of aggressive/destructive, self-injurious and stereotypic behaviors was studied. It was found that the high-transcribing long (L/L) genotype in 5-HTTLPR was related with a higher frequency of aggressive/destructive and stereotypic behavior, while patients with the short (S/S) genotype had less aggression. The MAOA-VNTR genotype had no effect on behavior.55 On the other hand, in a study of 64 males with FXS where the COMT gene was also included, the results of the previous study were not replicated. There was no association between behavioral characteristics and either 5-HTTL PR (serotonin) or MAOA genotypes. Nevertheless, the A/A genotype in COMT that modifies dopamine levels was associated with greater interest and pleasure in the environment, and with less risk of property destruction, stereotyped behavior and compulsive behavior.54 The authors of the study suggest that the non-reproducibility of the results regarding MAOA-VNTR can be explained by differences in the prevalence of aggressive and stereotyped behavior among the studied populations or by differences in the measurements used to characterize each behavior.

The importance of identifying potential modifier genes was explored in a clinical trial. The researchers investigated the relation between polymorphisms in several genes and the response of sertraline in 51 children. They found that BDNF, MAOA, 5-HTTLPR, Cytochrome P450 2C19 and 2D6 polymorphisms had significant correlations with treatment response.64

Currently the knowledge about molecular causes of the variable phenotype in patients with FXS include characteristics associated with the FMR1 gene itself and to secondary, modifying gene effects.

Regarding FMR1, when the diagnosis is established, the type of mutation causing FXS is identified: CGG repeat tract expansion vs pathological variant causing loss of function in FMR1.

When the CGG is identified, is it expected that about half of the patients have size or methylation mosaicism or both.29 The presence of any of those mosaicisms determines the expression or not of FMR1 mRNA and FMRP. The quantity of FMRP is directly related with IQ.34,37,39 While the presence of size mosaicism is related with better intellectual functioning and less maladaptive behavior,29,42 elevated concentrations of FMR1 mRNA in patients with FM have been associated with a higher risk of developing FXTAS45,46,48 and with the severity of behavioral symptoms.47

The search for modifier genes affecting the phenotype has been carried out using the candidate genes strategy. Because high impact clinical manifestations in FXS are related with neurologic phenotypes, the studied candidate genes are involved in CNS development and the appearance of seizures (BNDF)56,6062 and associated with mood and aggression (5-HTTLPR, MAOA-VNTR y COMT).54,55 Recent research has been done with small groups of patients and there are no conclusive results about the importance of these variants in modifier genes.

Scientific and clinical evidence about molecular causes of variable expressivity in FXS is growing quickly. It is evident that aspects of the mutation type in FMR1 and the behavior of the CGG repeat tract are relevant in the presentation of the condition. Research about modifier genes is still emerging. There are important limitations such as sample size and comparability of different studies, mainly due to smaller groups of selected patients and the use of different tools for measuring the phenotypes.

Independent cohorts of patients with FXS across different continents have shown evidence that mosaicism, FMR1 mRNA or FMRP quantification are associated with the severity of the phenotype. However, this information cannot currently be used effectively in the integral management of patients. When intervention strategies become available in order to prevent the development of FXTAS, or when certain molecules can regulate levels of FMRP expression to measure FMR1 mRNA and FMRP, they could be crucial for selecting patients and identifying the best therapeutic intervention.

In clinical trials there is an important window of opportunity. Identifying mosaicism, measuring transcription/translation activity of FMR1 and stratifying patients by modifier genotypes29,65 will permit the identification of subgroups of patients with greater potential to respond to specific treatments.

The authors report no conflicts of interest in this work.

1. Coffee B, Keith K, Albizua I, et al. Incidence of Fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85(4):503514. doi:10.1016/j.ajhg.2009.09.007

2. Saldarriaga W, Tassone F, Gonzlez-Teshima LY, Forero-Forero JV, Ayala-Zapata S. Fragile X Syndrome. Colomb Med. 2014;190198. doi:10.25100/cm.v45i4.1810

3. Bagni C, Tassone F, Neri G, Fragile HR. X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012;122(12):43144322. doi:10.1172/JCI63141

4. Salcedo-Arellano MJ, Dufour B, McLennan Y, Martinez-Cerdeno V, Hagerman R. Fragile X syndrome and associated disorders: clinical aspects and pathology. Neurobiol Dis. 2020;136:104740. doi:10.1016/j.nbd.2020.104740

5. Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG. Rare FMR1 gene mutations causing fragile X syndrome: a review. Am J Med Genet Part A. 2018;176(1):1118. doi:10.1002/ajmg.a.38504

6. Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet Part A. 2008;146A(10):13581367. doi:10.1002/ajmg.a.32261

7. Tassanakijpanich N, Hagerman RJ, Worachotekamjorn J. Fragile X premutation and associated health conditions: a review. Clin Genet. 2021;99(6):751760. doi:10.1111/cge.13924

8. Hagerman RJ, Berry-Kravis E, Hazlett HC, et al. Fragile X syndrome. Nat Rev Dis Prim. 2017. doi:10.1038/nrdp.2017.65

9. Taha MS, Haghighi F, Stefanski A, et al. Novel FMRP interaction networks linked to cellular stress. FEBS J. 2021;288(3):837860. doi:10.1111/febs.15443

10. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell. 1993;74(2):291298. doi:10.1016/0092-8674(93)90420-U

11. Ashley CT Jr, Wilkinson KD, Reines D, Warren ST. FMR1 protein contains conserved RNP-family domains and demonstrates selective RNA binding. Science (80-). 1993;262(5133):563566. doi:10.1126/science.7692601

12. Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004;27(7):370377. doi:10.1016/j.tins.2004.04.009

13. Gatto CL, Broadie K. Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models. Front Synaptic Neurosci. 2010. doi:10.3389/fnsyn.2010.00004

14. Budimirovic DB, Haas-Givler B, Blitz R, et al. Consensus of the fragile X clinical and research consortium on clinical practices: autism Spectrum Disorder in Fragile X Syndrome. 2014;115.

15. Budimirovic DB, Subramanian M. Neurobiology of Autism and Intellectual Disability: fragile X Syndrome. 2 ed. In: Johnston M, Adams H, Fatemi A, editors. London: Oxford University Press;2016.doi:10.1093/med/9780199937837.001.0001

16. Saldarriaga W, Payn-Gmez C, Gonzlez-Teshima LY, Rosa L, Tassone F, Hagerman RJ. Double genetic hit: fragile X syndrome and partial deletion of protein patched homolog 1 antisense as cause of severe autism spectrum disorder. J Dev Behav Pediatr. 2020;41(9):724728. doi:10.1097/DBP.0000000000000850

17. Sherman SL, Kidd SA, Riley C, et al. Forward: a registry and longitudinal clinical database to study fragile X syndrome. Pediatrics. 2017;139(Supplement 3):S183S193. doi:10.1542/peds.2016-1159E

18. Loehr JP, Synhorst DP, Wolfe RR, Hagerman RJ. Aortic root dilatation and mitral valve prolapse in the fragile X syndrome. Am J Med Genet. 1986;23(12):189194. doi:10.1002/ajmg.1320230113

19. Rahit KMTH, Tarailo-Graovac M. Genetic modifiers and rare mendelian disease. Genes (Basel). 2020;11(3):239. doi:10.3390/genes11030239

20. Li D, Yu J, Gu F, et al. The roles of two novel FBN1 gene mutations in the genotypephenotype correlations of marfan syndrome and ectopia lentis patients with marfanoid habitus. Genet Test. 2008;12(2):325330. doi:10.1089/gte.2008.0002

21. Fahed AC, Wang M, Homburger JR, et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020;11(1). doi:10.1038/s41467-020-17374-3

22. Kim M, Costello J. DNA methylation: an epigenetic mark of cellular memory. Exp Mol Med. 2017;49(4):e322e322. doi:10.1038/emm.2017.10

23. Kraan CM, Baker EK, Arpone M, et al. Dna methylation at birth predicts intellectual functioning and autism features in children with fragile x syndrome. Int J Mol Sci. 2020;21(20):7735. doi:10.3390/ijms21207735

24. Pieretti M, Zhang F, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66(4):817822. doi:10.1016/0092-8674(91)90125-I

25. Nolin SL, Glicksman A, Houck GE, Brown WT, Dobkin CS. Mosaicism in fragile X affected males. Am J Med Genet. 1994;51(4):509512. doi:10.1002/ajmg.1320510444

26. Stger R, Genereux DP, Hagerman RJ, Hagerman PJ, Tassone F, Laird CD. Testing the FMR1 promoter for mosaicism in dna methylation among cpg sites, strands, and cells in FMR1-expressing males with fragile x syndrome. PLoS One. 2011;6(8):e23648. doi:10.1371/journal.pone.0023648

27. Pretto DI, Mendoza-Morales G, Lo J, et al. CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles. J Med Genet. 2014;51(5):309318. doi:10.1136/jmedgenet-2013-102021

28. Jiraanont P, Kumar M, Tang H-T, et al. Size and methylation mosaicism in males with Fragile X syndrome. Expert Rev Mol Diagn. 2017;17(11):10231032. doi:10.1080/14737159.2017.1377612

29. Budimirovic DB, Schlageter A, Filipovic-Sadic S, et al. A genotype-phenotype study of high-resolution FMR1 nucleic acid and protein analyses in fragile X patients with neurobehavioral assessments. Brain Sci. 2020;10(10):694. doi:10.3390/brainsci10100694

30. Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet. 2000;94(3):232236. doi:10.1002/1096-8628(20000918)94:3<232::aid-ajmg9>3.0.CO;2-H

31. Dolskiy AA, Yarushkin AA, Grishchenko IV, et al. miRNA expression and interaction with the 3UTR of FMR1 in FRAXopathy pathogenesis. Non-Coding RNA Res. 2021;6(1):17. doi:10.1016/j.ncrna.2020.11.006

32. Primerano B, Tassone F, Hagerman RJ, Hagerman P, Amaldi F, Bagni C. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA. 2002;8(12):14821488. doi:10.1017/S1355838202020642

33. Kaufmann WE, Abrams MT, Chen W, Reiss AL. Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. Am J Med Genet. 1999. doi:10.1002/(SICI)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.CO;2-H

34. Loesch DZ, Bui QM, Dissanayake C, et al. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev. 2007. doi:10.1016/j.neubiorev.2006.09.007

35. Backes M, Gen B, Schreck J, Doerfler W, Lehmkuhl G, Von Gontard A. Cognitive and behavioral profile of fragile X boys: correlations to molecular data. Am J Med Genet. 2000;95(2):150156. doi:10.1002/1096-8628(20001113)95:2<50::aid-ajmg11><50::aid-ajmg11>3.0.CO;2-1

36. Tassone F, Hagerman RJ, Ikl DN, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet. 1999;84(3):250261. doi:10.1002/(SICI)1096-8628(19990528)84:3<250::aid-ajmg17>3.0.CO;2-4

37. Hall S, DeBernardis M, Reiss A. Social escape behaviors in children with fragile X syndrome. J Autism Dev Disord. 2006;36(7):935947. doi:10.1007/s10803-006-0132-z

38. Bagni C, Zukin RS, Synaptic A. Perspective of Fragile X syndrome and autism spectrum disorders. Neuron. 2019. doi:10.1016/j.neuron.2019.02.041

39. Kim K, Hessl D, Randol JL, et al. Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions. PLoS One. 2019;14(12):e0226811. doi:10.1371/journal.pone.0226811

40. Aliaga SM, Slater HR, Francis D, et al. Identification of males with cryptic fragile x alleles by methylation-Specific quantitative melt analysis. Clin Chem. 2016;62(2):343352. doi:10.1373/clinchem.2015.244681

41. Baker EK, Arpone M, Aliaga SM, et al. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features. Mol Autism. 2019;10(1). doi:10.1186/s13229-019-0271-7

42. Baker EK, Arpone M, Vera SA, et al. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome. J Neurodev Disord. 2019;11(1). doi:10.1186/s11689-019-9288-7

43. Kraan CM, Godler DE, Amor DJ. Epigenetics of fragile X syndrome and fragile X-related disorders. Dev Med Child Neurol. 2019;61(2):121127. doi:10.1111/dmcn.13985

44. Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. Obstet Gynecol Surv. 1992;47(5):306308. doi:10.1097/00006254-199205000-00008

45. Loesch DZ, Sherwell S, Kinsella G, et al. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet. 2012;82(1):8892. doi:10.1111/j.1399-0004.2011.01675.x

46. Santa Mara L, Pugin A, Alliende MA, et al. FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet. 2014;86(4):378382. doi:10.1111/cge.12278

47. Baker EK, Arpone M, Kraan C, et al. FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome. Sci Rep. 2020;10(1). doi:10.1038/s41598-020-68465-6

48. Schneider A, Winarni TI, Cabal-Herrera AM, et al. Elevated FMR1-mRNA and lowered FMRP a double-hit mechanism for psychiatric features in men with FMR1 premutations. Transl Psychiatry. 2020;10(1). doi:10.1038/s41398-020-00863-w

49. Dipple KM, McCabe ERB. Phenotypes of patients with Simple mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet. 2000;66(6):17291735. doi:10.1086/302938

50. Schffer AA. Digenic inheritance in medical genetics. J Med Genet. 2013;50(10):641652. doi:10.1136/jmedgenet-2013-101713

51. Mineur YS, Sluyter F, De Wit S, Oostra BA, Crusio WE. Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse. Hippocampus. 2002;12(1):3946. doi:10.1002/hipo.10005

52. Bakker CE, Verheij C; The Dutch-Belgian Fragile X Consorthium, et al. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell. 1994. doi:10.1016/0092-8674(94)90569-X

53. Errijgers V, Kooy RF. Genetic modifiers in mice: the example of the fragile X mouse model. Cytogenet Genome Res. 2004;105(24):448454. doi:10.1159/000078218

54. Crawford H, Scerif G, Wilde L, et al. Genetic modifiers in rare disorders: the case of fragile X syndrome. Eur J Hum Genet. 2021;29(1):173183. doi:10.1038/s41431-020-00711-x

55. Hessl D, Tassone F, Cordeiro L, et al. Brief report: aggression and stereotypic behavior in males with fragile X syndrome - Moderating secondary genes in a single gene disorder. J Autism Dev Disord. 2008;38(1):184189. doi:10.1007/s10803-007-0365-5

56. Louhivuori V, Arvio M, Soronen P, Oksanen V, Paunio T, Castrn ML. The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome. Epilepsy Res. 2009;85(1):114117. doi:10.1016/j.eplepsyres.2009.01.005

57. Stepniak B, Kstner A, Poggi G, et al. Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes. EMBO Mol Med. 2015;7(12):15651579. doi:10.15252/emmm.201505696

58. Tondo M, Poo P, Naud M, et al. Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role? Epilepsy Behav. 2011;22(3):581583. doi:10.1016/j.yebeh.2011.08.003

59. Wassink TH, Hazlett HC, Davis LK, Reiss AL, Piven J. Testing for association of the monoamine oxidase a promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome. J Neurodev Disord. 2014;6(1). doi:10.1186/1866-1955-6-6

60. Chen ZY, Patel PD, Sant G, et al. Variant Brain-Derived Neurotrophic Factor (BDNF) (Met66) alters the intracellular trafficking and activity-dependent secretion of wild-type BDNF in neurosecretory cells and cortical neurons. J Neurosci. 2004;24(18):44014411. doi:10.1523/JNEUROSCI.0348-04.2004

61. Szeszko PR, Lipsky R, Mentschel C, et al. Brain-derived neurotrophic factor val66met polymorphism and volume of the hippocampal formation. Mol Psychiatry. 2005;10(7):631636. doi:10.1038/sj.mp.4001656

62. Chen ZY, Jing D, Bath KG, et al. Genetic variant BDNF (Val66Met) polymorphism alters anxiety-related behavior. Science (80-). 2006;314(5796):140143. doi:10.1126/science.1129663

63. Gratacs M, Gonzlez JR, Mercader JM, de Cid R, Urretavizcaya M, Estivill X. Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia. Biol Psychiatry. 2007;61(7):911922. doi:10.1016/j.biopsych.2006.08.025

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Genetic mapping of subsets of patients with fragile X syndro | TACG - Dove Medical Press

Michelle Angs Omega joins the Star Wars universe in the latest Disney+ television series from Lucasfilm, Star Wars: The Bad Batch. With voice actor veteran, Dee Bradley Baker, back as the titular Bad Batch, Angs character is stirring up some big questions for Star Wars fans namely, who is Omega in The Bad Batch?

Here is your guide to the new female clone in the Star Wars universe.

The Bad Batch premiere launched on Star Wars Day (May 4) and tells the story of a group of defective, genetically modified clones called Clone Force 99, or the Bad Batch. Made up of five mutated clone troopers Hunter, Tech, Echo, Crosshair, and Wrecker the squad partakes in numerous mercenary missions on behalf of the Republic, and are quickly becoming some of the best characters in the galaxy.

Dave Filonis (Star Wars Rebels, Star Wars Resistance) new animated series crosses over the events of Star Wars: The Clone Wars and Star Wars: Episode III Revenge of the Sith (2005) in the time before the original trilogy began. The season began with a feature-length episode titled, Aftermath, highlighting the historic moment of the Galactic Empires rise to power. Despite The Bad Batch controversy early on, the new series seems to have already built its fandom like many of the other Star Wars spinoffs.

When Chancellor Palpatine executed Order 66, overriding the Clone Armys programming to turn on their Jedi generals, Clone Force 99 was seemingly unaffected due to their enhancements. Although, as time wore on, some of the squad members did succumb to the Order 66 protocol before being saved by their brothers.

Omega, like the member of Clone Force 99, is a genetically enhanced clone. Essentially made from the DNA of bounty hunter Jango Fett, Omegas existence at least at first was seemingly unknown, but as the series progresses more and more is coming to light about the new character.

In the ninth episode of The Bad Batch, Bounty Lost, Omega was revealed to be a direct replica of Jango Fett, at least in terms of genetics. Only one other clone has this same link the bounty hunter, Boba Fett.

Arguably the new Grogu of Star Wars, Omega was introduced as a wide-eyed child intent on seeking a more adventurous life. Raised under the guidance of the Kaminoans on Kamino, Omegas first appearance came when the elite soldiers of Clone Force 99 returned to Kamino following the execution of Order 66. She was the medical assistant to Nala Se.

Hunter had just saved the Padawan Caleb Dume Kanan Jarrus in Star Wars Rebels after the murder of Jedi Master Depa Billaba, and upon returning to Kamino stumbled upon Omega. When Admiral Tarkin arrived on Kamino, Omega bonded with Hunter and the rest of Clone Force 99 before escaping the planet with them after Crosshairs chip activated, making him turn on his squad.

Many theories point to Omega being Force-sensitive. Her skill targeting a weapon in the premiere episode of the Star Wars animation, and more recently her ability to win every opponent at a game of dejarik, suggests there may be more than meets the eye with this honorary Bad Batch member.

What Star Wars fans do know, however, is that Omega is the daughter of Jango Fett and sister to Boba Fett. In Bounty Lost, after a near-death situation with the notorious Cad Bane and Fennec Shand, Tech revealed that Omegas genetic makeup is a direct replication of Jango Fetts. While the clone trooper armys genetics were slightly modified to grow quicker, Omega and Boba Fett were left completely untouched.

While Star Wars fans dont know much else other than this familial connection to two of the galaxys most notorious bounty hunters, her relationship to Boba Fett provides the most interesting detail, and not just for Filonis The Bad Batch. With only six episodes left of the first season, her backstory could point to the animated reprisal of Boba Fett or likewise the live-action debut of Omega in a Star Wars series down the line like Robert Rodriguezs The Book of Boba Fett.

Back to The Bad Batch though, we know the Kaminoans have hired bounty hunters to capture and protect Omega reasons unknown so her existence in the animated series suggests that trouble isnt far away for Clone Force 99.

As well as discovering what she is, Omega is slowly building a life outside of Kamino. Still under the shadow of those who made her, Omegas burgeoning connection to the members of the Bad Batch is how she seems to be writing her own history. The character is always one to dive into adventure, and even though this causes despair for Hunter and the gang, she is proving herself to be a valuable part of this formidable crew.

From helping in the mission on Corellia to find and secure a tactical droid to being present for the removal of the clones inhibitor chips on Bracca, Omegas Star Wars story has only just begun.

Omega is sharp-minded and headstrong. Sometimes a little nave, the character often heads into trouble with the right intentions but not the military skill to back it up. However, her way to find good in everyone as well as passing no judgments on what Clone Force 99 has had to do to stay alive makes her one of the galaxys warmest hearts.

Omegas personality has been shaped by those around her. The individual members of the unique squad, all of which have their own personalities seem to have rubbed off on the young clone. It is in her difference now to when she first met Clone Force 99, that fans can get an idea of how sheltered her life was back on Kamino. Much like how Grogu was in hiding for so long in The Mandalorian, Omegas entry into the big wide galaxy is a point of much character exploration.

From the Bad Batch, she learned about teamwork and survival, and even from characters like Cid (Rhea Perlman) has Omega developed new traits for this example, it seems Cids abrupt nature and aloofness has given Omega some new street smarts if her dejarik winning streak is anything to go by.

While Omega is the one Clone Force 99 protects most of the time, her calmness and quality to not see everything from a military perspective has aided the group on many occasions. Her competitive kinship with Rafa and Trace Martez on Corellia helped bring the sisters and the Bad Batch together to battle the army of police droids.

Omegas caring nature and inability to leave those she loves also highlight how the young clone is adding something new to the squad. Even after Wrecker set out to kill her after his inhibitor chip activated, Omega stayed by his side following the chip removal surgery and wouldnt rest until her squadmate woke up.

Omega has learned much since joining Clone Force 99. On Bracca, Wrecker taught her how to disarm explosives while on Ord Mantell, she acquired a Zygerrian energy bow. Although at first a novice in combat, Omega has quickly learned new skills in order to survive the attacks of Crosshair and the Galactic Empire as well as the relentless confrontations with the galaxys most nefarious bounty hunters.

Omega picked up her energy bow on Ord Mantell and has become an adept user at handling the weapon, although she still needs much practice to use it confidently. As StarWars.com describes:

Firing sizzling laser bolts instead of arrows, a Zygerrian energy bow is a formidable weapon in a firefight if you have a sharp eye and strong arms to lend the weapon unwavering accuracy.

It is perhaps the mystery surrounding the possibility of Omega being Force-sensitive that is most interesting in her skillset. Some might say its beginners luck or youthful charm, but the way she successfully aimed, possibly the first weapon she has ever wielded, in the premiere episode or managed to win numerous back-to-back games of dejarik, alludes to the fact that Omega may not be any regular clone.

Whether she is connected to the Force or not, Omegas skills at negotiating with her team members and other allies, as well as her ability to quickly pick up military talents make her more than suitable to take up the opening Crosshair left in Clone Force 99 and become one of the new rebels of the galaxy.

With more yet to discover, Omega is perhaps one of Star Wars most interesting new characters, and with many more upcoming projects, fans might not have to wait long for some answers.

What is your favorite thing about Omega? Let us know in the comments!

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'Star Wars: The Bad Batch' Who Is Omega? Inside the Magic - Inside the Magic

There are many different types of hair, including straight, curly, wavy, and coily.

Depending on a persons hair type, they may need to follow different care instructions.

This article will provide some general information about hair types and detail some specific care instructions.

Hair type typically refers to the shape of a persons hair. Hair can be straight, wavy, curly, or coily.

According to one 2020 article, hair consists of two structures: the strand of hair itself, or the hair shaft, and the hair follicle.

The hair shaft consists of different layers, including the cortex, the surrounding cells, and, in thicker hair, a central medulla.

A 2017 study notes that the shape of the hair follicle determines the shape of a persons hair. For example, the hair follicles for curly hair are in the shape of an S.

Genetic factors play a role in deciding the shape of a persons hair follicle.

Learn more about what determines hair shape here.

Hair shape refers to the degree of curliness of a persons hair.

One review article notes that different researchers have used different hair shape categorization systems in their research about hair. For example, some have used use labels such as:

Some hairstylists like to distinguish hair shapes into four categories. However, scientists do not use this categorization system in medicine or scientific research.

Hairstylists use the following categorization system:

Hair density refers to the number of hairs that a person has on their head. The more hairs a person has, the higher that persons hair density.

Hair structure refers to the thickness of the strands of hair. A persons hair can be:

According to the World Trichology Society (WTS), hair thickness varies depending on the person. Some people have finer hairs than others. The WTS also notes that the hair fibers become shorter and finer as a person ages.

Hair porosity is a measure of the amount of moisture that a persons hair can absorb.

Hair porosity depends on how many gaps or tears are present in the cuticle layer. The cuticle is the outer layer of the hair, which protects it from wear and tear.

According to one 2015 article, hair is naturally porous. However, hair that has sustained damaged due to bleaching or chemical treatments is more porous than untreated hair.

People may find it helpful to avoid strong chemical and high heat treatments to let their hair recover.

According to the American Academy of Dermatology (AAD), people can try the following when caring for their hair:

People should select their shampoo and conditioner based on their hair type.

If possible, they should try to limit:

There is some evidence to suggest that straight hair carries sebum more easily than curly hair. Sebum is a waxy, oily substance that a persons skin produces. This means that people with straight hair may be more likely to get oily hair than those with curlier hair.

For this reason, people with straighter hair may wish to avoid the excessive use of certain hair products. These include:

People with straight hair may also wish to wash their hair more frequently.

According to a 2015 article, a person with straight hair may need to use a more gentle approach to caring for their hair. This may involve:

Over-brushing can damage curl definition. Therefore, people with curly hair may need to experiment to find the right amount of brushing for their hair.

Some other care tips for curly hair include:

Some people may also wish to use hair mousses and gels that are intended for curly hair to maintain curl definition.

The AAD suggests the following tips for Black hair:

Additionally, people may wish to take care when using weaves or extensions. To prevent hair damage, they may wish to try:

Tight hairstyles can also lead to traction alopecia, which results in hair loss. People may wish to consider giving the hair a break after 23 months of wearing a weave or extension.

Learn more about Black hair care tips here.

People with thick hair may find it helpful to use denser hair products, such as:

Additionally, people with greater hair density may find it beneficial to use brushes that are designed for thick hair. These brushes have fewer spokes than others, which helps people remove knots without breaking the hairs.

There is anecdotal evidence to suggest that denser hair products, such as oils and butters, can weigh down thinner hair. For this reason, people with thin hair may wish to avoid these products.

People with thinner hairs may also benefit from:

The WTS notes that people shed approximately 50150 hairs per day. This can occur through hair washing, brushing, and combing. However, some people lose more hair than they can grow.

This can happen for various reasons. One common cause is androgenetic alopecia. This is a genetically predetermined condition that affects around 50% of people. In males, hair loss occurs at the temples and the top of the head. In females, hair loss can affect the crown.

Hair loss can also occur in females due to other health conditions, including:

A person should contact a doctor if they:

Some anecdotal evidence suggests that people can use certain shampoos, essential oils, and dietary supplements to thicken the hair. However, there is no scientific evidence to prove that hair care can prevent thinning hair.

That said, a person can take measures to help prevent some causes of hair loss, such as traction alopecia.

Learn more about stopping hair loss here.

Everyones hair is slightly different. A persons hair can be straight, curly, coily, or wavy, and each type benefits from different methods of care.

Although some hair loss is common, a person should contact a healthcare professional if they are concerned.

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Hair: Types and care instructions - Medical News Today

Check out what laws go into effect on July 1, 2021.

Dozens of Mississippi laws will go into effect on Thursday, July 1, 2021. Take a look at some of the most talked about bills of the 2021 session and how these new or revised laws could impact you.

Teacher Pay Raise

Probably one of the most talked about bill that passed from the House of Representatives was a raise for teachers and teaching assistants. HB 852, which had a nearly identical companion bill in the Senate, provided for a $1,000 raise for teachers at the start of the 2021-2022 school year and $1,100 for assistant teachers.

A teacher pay raise was on everyones mind entering the 2021 session and COVID-19 made it particularly important to lawmakers to see these funds diverted to teachers. In total, the raise made up an additional $50 million to education in the FY2022 budget.

Occupational Licensing Recognition

Workers in Mississippi and those who would like to come to the state but are licensed in other states, just got a helping hand. HB 1263, authored by Rep. Becky Currie, instated the Universal Recognition of Occupational Licensing Act. This bill allows individuals who work in other states and have a license that is in good standing with that agency to transfer for work to Mississippi with no additional loopholes.

RELATED: Governor Reeves on Universal Occupational Licensing Act: Mississippi is open for business

Just days before going into law, Governor Tate Reeves commented that this bill would allow workforce development to continue and labor shortages from the pandemic to decrease. He also said that it will reduce the red tape many professionals have to go through in order to work in Mississippi. That will include teachers coming from out of state to work here.

Election Qualifying

Planning to run for office in Mississippi? Well, take note of this bill lawmakers passed this session. HB 1048 effectively changes the qualification deadline to February 1 for some statewide, state district, county and county district offices.

Previously the deadline was not until March 1. This will bump the decision up for candidates considering a run for elected office by one month.

Appropriations bills

Mississippis budget was set during the 2021 session. The bills that pertain to appropriations for state agencies and such will all go into effect July 1, 2021. This marks the start of a new fiscal year in the state.

You can read more of those bills from the Senate and House here.

Alcohol Delivery

Many Mississippians have been pushing for more accessible ways to get their alcohol. The Legislature listened with HB 1135. This bill will allow the delivery of a particular wine, spirit or beer from a licensed retailer to a consumer. The retailer must also have a delivery service permit to participate in this service.

Those delivering can be current employees or contracted individuals who are at least 21 years old and receive proper training consistent with current programs. To place an order, you must be at least 21 years old.

Executive Sessions for Public Bodies

Speaker of the House Philip Gunn authored a bill, HB 1323, that will allow any public body to enter into executive session in order to develop a strategic plan to combat, eliminate, reduce or respond to human trafficking or the commercial sexual exploitation of children.

The reason these meetings would be necessary is to address a particular trafficking issue and attempt to provide an immediate solution.

MAEP Calculations

Over in the Senate, many lawmakers set their sights on improving education as well as helping the Mississippi Department of Education operate in unprecedented times.

SB 2149, which was authored by Sen. Dennis DeBar, provided that typical daily attendance rolls would not count against schools from the 2020-2021 school year.

Mississippis MAEP funding formula is calculated in part by daily attendance. Due to the unprecedented nature of the pandemic and virtual learning, daily attendance was unpredictable and, for many schools, impossible in-person during portions of the last year.

Teacher License Reciprocity

Similar to the removal of red tape for all occupational licensing, SB 2267 will allow reciprocity for teachers.

This bill will apply to any teacher coming from another state who already possess a teacher license and can pass a background check. Under the law, the Department of Education can grant a one-year extension to June 2022 to allow for that teacher to meet requirements in Mississippi.

The bill also implements the creation of a licensing and certification committee that will assist in streamlining the process for teacher certification in the state.

Earned Parole Eligibility

Possibly one of the most talked about pieces of legislation in general this year centered around the criminal justice system in Mississippi. SB 2795, or the Earned Parole Eligibility Act, was offered by Sen. Juan Barnett. He brought forward a similar bill in 2020 but it was vetoed by Governor Reeves.

Barnett said he took those critiques and perfected the language in order to have an agreement.

The Earned Parole Eligibility Act allows for particular non-violent, and some violent offenders, to be eligible for parole after a certain amount of their sentence has been served. The hesitation in 2020 centered around murderers being considered in the eligibility category, a move Barnet said was removed in the 2021 bill.

RELATED: Senate passes Mississippi Earned Parole Eligibility Act

Those not eligible include sex offenders, human traffickers, murderers, capitol, and habitual offenders. It is important to note that the bill does not grant any offenders parole; it only allows the possibility of parole in the event the individual has met the proper criteria for consideration.

The bill passed in both chambers and was later signed into law by Governor Reeves.

Medicaid Tech Bill

Every three years lawmakers are tasked with reconfiguring the guidelines for the Mississippi Division of Medicaid. This year it almost looked as if lawmakers would leave the 2021 session without a Medicaid Tech bill. However, at the final hour they were able to come to an agreement on the program with SB 2799.

RELATED: Medicaid will live on in the Governors office and with a budget

Though some attempts were made to remove the Division of Medicaid from under the Governors office, it remained housed there in the 2021 legislation. But the House did remove language that would have provided 12 months of postpartum care for mothers who receive the benefits.

Sen. Kevin Blackwell, Chairman of Medicaid, said the final bill included a 5% reimbursement for some providers, restored crossover claims for hospitals, nursing home and immediate care facility reimbursement days, and provided an additional 5% bump for dentists in 2022-2024 to cover preventative services.

RELATED: Senate passes bill to increase TANF benefits for Mississippians

Dept. of Public Safety

Many changes were made in regard to law enforcement and the Department of Public Safety. Perhaps the largest of note was the transfer of the Capitol Police from the Department of Finance and Administration to the Department of Public Safety. The law came by way of SB 2434.

The duties and abilities of the Capitol Police did not change with the bill, only the overseeing agency. The bill was offered by Sen. Brice Wiggins, Sen. Angela Hill and Sen. John Horhn.

Capitol Police monitor the Capitol Complex in Jackson.

Mississippi Fairness Act

Mississippi gained national attention with the passage of SB 2536, entitled the Fairness Act. The legislation, offered by Sen. Angela Hill, would prevent biologically male individuals from competing in female sports. This law will apply to K-12 schools as well as institutions of higher learning.

When defending her bill to those who claimed it was non-inclusive to transgendered athletes, Hill said those who were born physically a male have an advantage over female athletes simply due to genetics.

RELATED: Mississippi Governor signs Fairness Act into law barring biological men participating in women, girls sports

The bill was up in the air until the last minutes of the session when it was passed. Sen. Hill said the legislation was necessary in order to protect girls sports in the state under the current federal position toward transgendered persons competing among athletes that do not share their at-birth genetic makeup.

Name, Image, Likeness

Another bill that could impact Mississippi athletes is SB 2313. This bill will allow Mississippi collegiate athletes to receive compensation if their image, name or likeness is used in advertising.

RELATED: Reeves signs bill to allow college athletes compensation when their name, image or likeness is used

Mississippi lawmakers believe passing this legislation will keep Mississippi schools competitive in the event the U.S. Supreme Court rules in current court cases to allow for the compensation.

Weight Limits

Senator Jennifer Branning presented SB 2825, the Mississippi Infrastructure Act of 2021 which tackled several road, bridge and transportation issues the state faces.

Probably the most considerable change was that of the harvest weight limits being raised from 84,000 pounds to 88,000 pounds. The bill goes into effect July 1, 2021, but the harvest permit increase does not take effect until July 1, 2023. These weight limits would only apply to commercial truckers carrying a harvest permit.

The bill was argued by many in the Senate as it moved through the process.

While this story only highlights some of the more impactful bills going into effect on July 1, you can access information on all bills passed from the 2021 session, and when they will take effect you can visit the Mississippi Legislatures website HERE.

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Lawmakers will officially head back to the Capitol in January for the 2022 session.

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New laws hit the books in Mississippi on Thursday - Yall Politics

This article is branded content for Seifert Belmont Reds

Profit-making genetics are readily apparent in the 90 bulls and 10 PTIC heifers' that husband and wife team Ian Stark and Jeanne Seifert, have selected for their third annual Seifert Belmont Reds Sale.

Seifert Belmont Reds is the largest breeder of purebred registered Breedplan recorded Belmont Reds in Australia. Their aggregation of five properties totals approximately 10,000ha and is a mix of ticky and clean country from marginal iron bark breeder country to brigalow backgrounding country.

Mrs Seifert is particularly proud of their females who continue to naturally rebreed, even on the back of two of the driest years on record.

"Our genetics are produced from a tough, unpampered cow herd where females are managed under a single sire mating program, using Belmont Red bulls at 1 per cent - 2 per cent, for a nine or a twelve-week joining period.

"Our cattle are never ever treated for tick or fly, are rarely handled, and every female must wean a calf every year, off native pasture, without any special care," she said.

"Under this regime and dry years, our wet cows and heifers returned from 93.2 per cent to 98.5 per cent pregnancy rates this year."

Early puberty bulls are also used from 14 months old to produce higher fertility daughters and sons. These stringent 'survival of the fittest' breeding principles, ensure that the young bulls catalogued for the 2021 sale will provide valuable heritable traits including phenomenal fertility, excellent growth and carcase attributes, genuine docility, and the highest levels of environmental adaptation.

Of the 90 bulls, 44 are Homozygous Polls (PP) and offer phenomenal fertility, truetropical adaptation and parasite resistance, with muscling and marbling.

"To top it off , 44 bulls of the 90 bulls are homozygous (PP) polls, and an impressive 73 per cent of them are at or above the 50th percentile for the Breedplan export $index."

Mr Stark said their emphasis on real fitness for purpose, and their ability to reliably meet volume demand, plus JBAS 7 status, ensures Seifert Belmont Reds can sell Australia-wide including into the Northern Territory and Western Australia.

"The reputation for our bulls to deliver consistent lines of calves, stems from many decades of breeding, where our pedigrees can be traced back to the original CSIRO Africander cross breeding trials of 1954," Mr Stark said.

"I'm especially pleased with the progress our herd has made with respect to type, muscling, and eye muscle area.

"IVF (invitro fertilization), ET (embryo transfer), AI (artificial insemination) and cloning are used to create optimum genetic combinations and accelerate genetic progress."

The demand for tropically adapted Bos Taurus Seifert Belmont Red genetics is emphasised by their exportation to Papua New Guinea, New Caledonia, the Philippines, and South America.

In 2020 the stud also established a satellite purebred Belmont Red herd with partners in Paraguay.

"Our focus on personal and professional integrity, combined with trustworthy data, provides peace of mind to our buyers," he said.

"We have every confidence in this draft, and we're sure they will make a valuable contribution to your herd and your profitability."

The demand for tropically adapted Bos Taurus Seifert Belmont Red genetics is emphasised by their exportation to Papua New Guinea, New Caledonia, the Philippines, and South America.

The catalogue is available now on http://www.seifertbelmontreds.com with hardcopies mailed on request. Inspections are welcome at any time, on any day - call, text or email Ian 0439 632 113 or Jeanne 0427 632 113, jeanne@seifertbelmontreds.com.

Click here for sale catalogue.

Videos will be on the website and AuctionsPlus two weeks before the sale. The sale will be on AuctionsPlus and by Helmsman auction, from 12 noon Monday, August 2, on property at 'Wonga' Jandowae. Attendees are welcome from 7am with complimentary morning tea and lunch.

Free delivery to Charters Towers, Rockhampton, Roma and Dalby saleyards will be available. Outside agents welcome, contact Elders Michael Smith 0428 541 711 or Anthony Ball 0428 275 499.

This article is branded content for Seifert Belmont Reds

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PATHWAY to Northern PROFITABILITY with Seifert Belmont Reds - Queensland Country Life