Archive for February, 2020

After giving birth, a woman's hormones are all over the place, and many women can experience either baby blues or postpartum depression. Though both can affect a woman's mental well-being there is a huge difference between the two of them.

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Baby blues is something that can go away by itself after a while, whereas the postpartum depression is something that women would need to go seek help for. But knowing the difference between the two can be difficult, and you do not want to mistake postpartum depression for baby blues. So keep reading discover the difference between baby blues and postpartum depression.

After a woman gives birth, her hormones are going to be acting up. And according to Web MD, if a woman is beginning to feel down when their baby is 2 or 3 days old, then she most likely will have baby blues.

This is just because of the hormone increase since giving birth and them trying to get back to how they were before the pregnancy.Any women who are feeling a bit down when her baby is a few days old is normal.

Postpartum depression is a mental illness where a woman can experience more than just feeling sad when it comes to it. Help Guide mentions that when a woman has postpartum depression, she may also experience the feeling of anxiety and lack of sleep.

Depression and anxiety typically coincide together, meaning that it's not just the baby blues. Additionally, with the lack of sleep, it's going to make a woman more emotional than she is since she is not resting her body too. Any woman that is experiencing depression, anxiety, and lack of sleep needs to talk to their doctor.

Afact that many women might find surprising about baby blues is 80% of moms experience it, as reported by Seleni. This means that a woman is not alone if she is feeling down after giving birth, and knowing that she is not alone in this situation can help her feel better.

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With 80% of moms experiencing baby blues, it is great idea for any mother that is experiencing it to reach out to her mom friends to see it if anyone has any advice for dealing with the situation.

With strong feelings behind postpartum depression, Mayo Clinic reports that another side effect that women can experience is feeling hopeless. The sense of feeling helpless overtakes a person's mind and body andmay results in them not getting out of bed or wanting to socialize.

That is why any woman who is experiencing any symptoms of postpartum depression should keep a journal about how she's feeling to track her symptoms. This can help her when she's talking to her doctor to know when each symptom started.

A symptom of baby blues that you and your partner could look out for after giving birth is mild mood swings. Help Guide mentions that a woman can experience mild mood swings from feeling happy to sad to angry and everything in between.

RELATED: 10 Myths About Postpartum Depression

Mood swings are very common with baby blues since it's just about the hormone balance in a woman's body. Though any women experiencing mild mood swings can tell you that it can be tiringto go through so many emotions in a short period of time. It is something that many doctors do not worry about.

A clear sign that a woman has postpartum depression instead of baby blues is that she is feeling disconnected fromher spouse and baby, according to Seleni. Feeling disconnected from others or even feeling disconnected from the world is a very concerning sign of postpartum depression.

Any woman that does have that these feelings need to speak with her medical team right away to start getting treatment for postpartum depression. Feeling disconnected from people in the world can result in dangerous behavior that medical professionals want to avoid.

A very common feeling that many women feel after giving birth is feeling stressed. American Pregnancy reports that many women can feel stressed after giving birth because of how much demand a newborn needs within their first few weeks alive.

RELATED: 10 Things Which Happen Inside Of You When You Become 'Mom'

Many times people are not prepared for how tired they are going to be when it comes to caring for their newborn. Newborns need attention twenty-four/seven; they need to be changed, fed, swaddled, held, and so much more. This can lead to a woman feeling overwhelmed from lack of sleep, and overall feeling stressed.

A majormyth behind postpartum depression is that it's something that happens to a woman right after she gives birth. But humans brains are very complex, and according to Mayo Clinic, postpartum depression can occur anytime to a year after a woman gives birth.

So any woman that is feeling depressed within a year of giving birth to her baby can end up having postpartum depression. And this is why many doctors recommend that new moms keep journals to keep track of their mood and mental mentality so they can easily spot when an abnormality occurs.

With postpartum depression, the only way to treat it is to seek medical help. Whereas baby blues is something that will naturally go away on its own. Web MD mentions that any person that is experiencing baby blues starts to feel better on their own when their little one is around one to two weeks old.

RELATED: 10 Reasons Women Experience Postnatal Depression

This is because by then, a woman's hormones will start to even out to what they were before the pregnancy allowing a woman to have a clear mind and more stable emotions.

One of the more serious symptoms of postpartum depression is the feeling that a woman wants to harm herself or others. Mayo Clinic reports that this symptom should not be ignored and needs to be talked about with her partner and withher doctor.

Though a woman may feel that she may never act on those feelings of harming herself or others, it is important that she gets checked out and get the medical help. The feeling of wanting to hurt yourself or others can be a very scary to admit, but the only way that a woman can get better from postpartum depression is to seek proper treatment.

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Baby Blues Vs Postpartum Depression: 10 Things You Need To Know - BabyGaga

The mechanism that controls the switch to meiosis has been a topic of scientific investigation for some time, and this breakthrough offers a unique look at a gene trigger that only sometimes becomes active. An important issue for reproductive medicine, researchers are excited for what this discovery could mean.

Knowledge of this process and the gene will be useful in providing a potential answer, but more answers could also mean more treatment options for people struggling with infertility.

"If it eventually becomes possible to control meiosis," said Ishiguro, "the benefits would be far-reaching for reproductive medicine, agricultural production, and even assisting rare species reproduction."

This research is still in early stages, with the announcement of the genetic discovery only being published this week. But it does provide a starting point for a whole new area of research in reproductive medicine going forward, that could result in even more new breakthroughs. Further studies will need to investigate the process of Meiosin in human subjects.

While we may not see this breakthrough being used in medicine anytime soon, it's exciting to know that it may help people in the future. If you're hoping to start a family and are worried about fertility, there's plenty of expert advice for boosting fertility that can be easily adopted.

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Researchers May Have Found A Genetic Cause Of Infertility - mindbodygreen.com

Personalized medicine has taken a big step forward with the launch of non-profit n-Lorem Foundation, which will create patient-tailored antisense oligonucleotide (ASO) therapeutics for people with rare diseases at no cost to the patients. This comes at the same time as custom gene therapies for rare disease patients are being developed, including some combined with CRISPR. As a result, more peopleeven those with ultra-rare diseasescould finally have access to treatments.

The process of developing these treatments is still burdensome and expensive. Only a few patients will benefit at first. But this concept has only been a dream until now, with most of these patients being completely shut out of the typical drug development process. Whats more, the scientists and sponsors pioneering these approaches are hoping to create blueprints for the treatment of ultra-rare diseases in general.

One of the goals is to create a replicable protocol, said Simon Frost, the father of Annabel Frost, a child who suffers from the ultra-rare disease alternating hemiplegia of childhood (AHC). We want to do it for our disease, and then take that process and give it to more patients across many more diseases. Frost, who is CEO of Tiber Capital Group, has been in discussions with multiple labs and investigating several approaches, including ASOs, gene editing, and gene therapy.

The blueprint for the ASO-based approach was a made-to-order treatment for a child with Battens disease, a rare neurodegenerative disorder. In 2018, Timothy Yu, a doctor at Boston Childrens Hospital, sequenced the genome in then six-year-old Mila to diagnose the condition. It turned out Mila had a retrotransposon which had inserted into her CLN7 gene. That aberration was blocking normal protein production by that gene.

Yus team then created a tailor-made ASO, which they called milasen, to mask the mutation in Milas genome, as detailed last year in the New England Journal of Medicine. It took about one year from sequencing to delivery of the therapy. Then, nine months after her treatment began, Milas doctors reported being hopeful about her prognosis, although they noted that she may already have experienced substantial effects from the disease. Hundreds of people, including parents and researchers, have since reached out to Yu to try and have this process replicated. Yus lab is reportedly developing several more personalized oligos, including ones for a rare form of epilepsy and ataxia-telangiectasia, which is a neurological disease.

Addressing the challenges

The demand for more custom ASOs is intense. But there are many issues standing in the way of such therapies.

ASOs are at the point where the investment in the technology has paid off commercially, said Art Krieg, an expert in oligonucleotide therapeutics as well as founder and chief scientific officer of Checkmate Pharmaceuticals. And now Tim Yu has shown the process for making customized ASOs. The questions is whether you can standardize that and could companies find it profitable to develop those therapies. Further, ASOs only block mutations and need to be given for life.

n-Lorem is funded with $1.5 million from Ionis (formerly Isis) Pharmaceuticals, another $1.5 million from Ioniss founder and former CEO Stanley Crooke and his wife Rosanne Crooke (a researcher at Ionis), $1 million from Biogen, and additional funds from other donors. Crooke started Ionis in 1989, as a pioneer in RNA-targeted therapeutics. Today, the company has three drugs on the market and more than 30 in development for a wide range of conditions. Biogen is partnered with Ionis on several of these.

Biogen declined to comment for this article, but sent this statement: Antisense oligonucleotides have been a game changer in the treatment of spinal muscular atrophy (SMA) and we believe they could hold promise in tackling other diseases. So, we are pleased to help support the establishment of n-Lorem Foundation and their mission to provide advanced, experimental RNA-targeted medicines free of charge to patients with ultra-rare diseases.

I knew we could do this and I knew there was a need, said Crooke, who started working on n-Lorem two years ago. But he also realized it was going to be challenging. The patients need a full genomic workup, and you need an investigator who can submit the IND and oversee it, he said. One major development that convinced Crooke the concept was feasible was the 2014 establishment of the Undiagnosed Diseases Network (UDN), a research study funded by the National Institutes of Health Common Fund. The UDN comprises clinical and research experts from across the U.S. who work to solve medical mysteries. As of 2019, 12 UDN clinical sites were open.

While UDN will be a key source of qualified patients, Crooke says n-Lorem will not be restricted to those. We announced the launch last week, and we already have six proposals for patients to treat. But patients need a confirmed genetic diagnosis and treating physicians. Then they must submit a proposal to treat to n-Lorems Access to Treatment Committee.

Another critical issue is the FDAs response. Crooke said he has already approached regulators and they are supportive. But n-of-1 trials like these raise special issues. In an editorial that accompanied the Yu teams report in NEJM, FDA regulators point out the many challenges to evaluating n-of-1 drugs what are the differences between treating one, ten, or thousands of patients? they asked.

But they also acknowledge that the field is moving ahead rapidly. Academic clinicianinvestigators now have the capacity to rapidly uncover specific mutations and pinpoint the putative mechanisms leading to certain rare disease phenotypes. Various ASOs or other compounds can be produced by third parties, and investigators can evaluate them using in vitro assays or animal models, the regulators wrote. FDA is holding a workshop in March on individualized therapies to try and advance thinking around this topic.

Ioniss long experience with ASOs should help in this regard. There are several generations, or classes, of ASOs that the company has developed over the last 30 years. Many years ago I began putting together integrative safety databases about the different classes of ASOs we have developed, Crooke says. Each class has generally similar properties, but they also have important differences such has ligands that work in different organs. Ionis has published on these databases and the properties they reveal, as well as providing the FDA access to the databases. That doesnt mean, however, that researchers will be able to predict all the effects of any ASO in any patient.

Finally, there is the question of cost, which is a particular boondoggle for rare diseases. We know this is feasible but we want to reduce the costs as far as we can, Crooke says. n-Lorem and Biogen are both already working on processes to further cut costs, But we will need to raise even more money to help more patients, he added. Patients shouldnt have to be on the internet raising funds for this.

While hes aware of the challenges, Crooke said hes feeling optimistic. Ive been overwhelmingly impressed with the commitment and advice weve gotten from physicians, experts on antisense and clinical trials,and others. He also hopes more modalities, besides ASOs will be able to work with n-Lorem and start similar endeavors. Im hopeful a gene therapy company can join us or do the same thing, he noted.

Gene therapy too

While there is nothing equal to n-Lorem yet, other researchers are already pursuing customized gene therapies, even for patients who have mutations that are very rare or that are not correctable with standardized gene therapy.

Monkol Lek, for example, is a geneticist at Yale who has been working on a gene therapy for a single patient with an ultra-rare mutation in a muscular dystrophy gene. There are more than 30 types of muscular dystrophy, and some are caused by mutations that affect different genes or varying sections within those genes. Lek himself has limb-girdle muscular dystrophy (MD). When he was first diagnosed, he remembers hearing over and over again that there were no treatments for his condition.

That was enough to inspire Lek to leave a career in IT while in his 20s and obtain degrees in physiology, bioinformatics, and genetics. Soon after he arrived at Yale in 2018, Lek met Rich Horgan, founder of the non-profit Cure Rare Disease, and whose younger brother Terry has a type of MD. Lek analyzed Terrys genomic data, and found he is missing the dystrophin genes promoter region, which needs to be activated in order for that protein to be made. Terry is also missing part of exon 1, which is also necessary to generate the production of dystrophin.

While they originally considered using ASOs, Rich Horgan and Lek realized that wasnt feasible because rather than needing to turn off a gene, they needed to turn on a gene, or at least its promoter.

One twist in this particular case is that people have two alternative versions, or isoforms, of this promoter and exon 1one set in muscle cells and another in brain cells. With that in mind, Lek is using a modified version of CRISPR called no-cut CRISPR to introduce a transcription activator attached to the Cas9 enzyme to turn on the brain-specific set, and thus make up for the deficit in muscle. He uses an AAV and CRISPR activation construct as well as guide RNA to direct the CRISPR to the right spot in the DNA.

Lek has already tested his putative therapy on Terrys cells and successfully corrected the mutated gene in the lab. Next, the treatment will be tested in mice. However, Lek is also exploring the possibility of an n-of-1 clinical trial in which the therapy would only be tested in Terry or anyone with his specific mutation.

Rich Horgans Cure Rare Disease group is now leading new projects for two boys with different forms of Duchenne MD as well as a patient with the limb girdle form of the disease.

Frost, meanwhile, is still investigating the best options for treating his daughter Annabel. His family has spent $250,000 so far and he expects it will cost another $250,000 to $500,000 to reach proof of concept. Annabels mutation is in ATP1A3, a gene that is associated with at least 12 different rare diseases (See table). However, Annabels specific mutation is very rare. Were not sure yet how many of these other conditions would be treated by the same transgene, but it could be a large proportion, Frost said.

Krieg noted that we are not yet at the point where any for profit company will want to develop n-of-1 therapies. It doesnt cost that much to manufacture DNA, and its a fully automated process, he said. It has taken billions of dollars already to get the technology this far and develop applications for some more common diseases. But the overall cost of lifetime treatment is still prohibitive. Right now, I dont know why any company would want to do this, he added. But there will come a time when there are the right incentives and someone will try it.

For families such as Annabel Frosts, these developments are still encouraging, and give them hope that they can help shape the future of the new field of n-of-1 therapeutics. This also supports the idea that more children should undergo whole genome sequencing as soon after birth as possible. With many rare diseases, the damage is compounded the longer the child is untreated. Further, greater understanding of how the full range of possible mutations in any gene impact health, and how that can be treated, will press the field forward.

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Dawn of the Customized Cure - Clinical OMICs News

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Male Hypogonadism Therapy Market Size Current and Future Industry Trends, 2020- - News by aeresearch

At-home DNA testing companies 23andMe and Ancestry each laid off about 100 employees over the past month, cutting around 14 and 6 percent of their workforces, respectively.

23andMe pointed to declining sales as the reasons for the layoffs, and Ancestry CEO Margo Georgiadis cited a slowdown in demand across the entire DNA category in a blog post. Interest in DNA testing skyrocketed through 2016, 2017, and 2018, with millions of people buying kits from direct-to-consumer companies. But in 2019, interest started to wane Illumina, which makes products used by these companies, said that the market was weak.

Thats probably because the market is saturated, and most people who would want to buy a DNA test kit already have, says David Mittelman, founder and CEO of the forensic genomics company Othram and former chief scientist at Family Tree DNA. That market is a certain size, and its being tapped out, he says.

It may also just be that all of the early adopters have bought and used DNA testing kits, says Shawn Baker, a genomics consultant and former scientist and manager at Illumina. They need to broaden out past the early adopters to everyone else, he says.

Compounding the problem, the service doesnt lend itself to repeat customers. You get tested once and youre done, Baker says. Theres also no real reason for users to return to the platform, except to see if any previously unknown or distant relatives have joined the service. But even then, the companies dont see additional revenue.

23andMe CEO Anne Wojcicki speculated that genetic privacy concerns could be one reason for the dip in sales. But Mittleman doesnt think that plays a big role. Im sure some people are worried about privacy, he says. I think people are burned by privacy more with Facebook than with genetic testing. Thats what they worry about.

23andMe and Ancestry did not respond to an emailed request for comment.

Ancestrys growth was also linked to their advertising spending they spent over $100 million on television ads in 2016, for example. Their growth was proportional to their spending, but thats since plateaued, Mittelman says. Acquiring more customers, who arent already inclined to be interested in existing products, would be expensive, he says.

But bringing in more customers for personal testing kits may no longer be the priority at these companies: instead, theyre turning their focus towards health. Ancestry says its shifting focus towards Ancestry Health, and plans to introduce new products that give customers information about their health risks. 23andMe plans to concentrate its research on a drug development arm, which has already proven lucrative: it started partnering with pharmaceutical companies in 2018, and in January, the company sold the rights to a drug it developed in-house.

The companies may want to keep pulling in customers to bolster their databases of genetic information, Baker says. Subscriber growth matters in terms of how good that database is.

But over the past few years, both companies have built up their databases of genetic data, and they may already be large enough to answer health care questions. These databases only need so much information before they can be useful to researchers and drug developers. If theyve reached that point, and it will take expensive marketing and advertising to pull in new customers, it might not be worth the investment to try and expand the pool, Mittelman says.

From the outside, that seems to be what the situation is, he says. You dont see 23andMe running sales trying to get people on board. Its not the priority.

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Layoffs at genetic testing companies reflect the changing market - The Verge

The DNA-testing fad is ending, and it's hitting one of the biggest players in the space hard.

On Wednesday, Ancestry CEO Margo Georgiadis wrote in a blog post that the company is laying off 6% of its 1,700-person workforce, or roughly 100 employees. In the post, Georgiadis cited the slowdown in the consumer genetics market as the reason, noting that the market is at an "inflection point," and most early adopters have already taken one of the tests.

The layoffs come just weeks after rival 23andMe also laid off 100 employees, representing about 14% of its staff.

"Over the last 18 months, we have seen a slowdown in consumer demand across the entire DNA category," Georgiadis wrote in the post. "Future growth will require a continued focus on building consumer trust and innovative new offerings that deliver even greater value to people."

CNBC reported on the Ancestry layoffs earlier on Wednesday.

Read more: The DNA-testing 'fad' is over, and one company just halted operations. The CEOs of Ancestry and 23andMe reveal how they're fighting back.

Over the past few years, genetic tests have grown in popularity. That's helped consumer genetics companies like 23andMe grow to 10 million users who've shipped off their spit with the hopes of learning more about their family trees, genetic traits, or even some health information.

Along the way, there have been beenflags raised about ethics and privacy, along with a slew of tough questions about identity and family.

Still, for years, it seemed like interest in genetic testing was only increasing. But in 2019, the companies started to run into a slowdown.

The first warning was raised by Illumina, the company that makes all the tech that's used to read info about your genes. On an earnings call in July, the company noted "softness" in the market.

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And in December, Veritas Genetics, a company that provides whole-genome sequencing for $600, said it had suspended its US operations, citing issues raising additional funding.

The layoffs at Ancestry come just months after the company unveiled its Ancestry Health tests, its first foray into the health market.

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Genealogy giant Ancestry lays off 6% of its employees - Business Insider - Business Insider

In determining risk of future disease, Ian Scott and colleagues argue there is little value in genetic testing of asymptomatic people with no family history of disease

Low cost genetic testing is increasingly being used by patients and the public to predict risk of developing disease in asymptomatic people in the hope that more precise risk stratification might facilitate targeted interventions for reducing risk

The proliferation of genetic variants might cause clinicians and citizens to misread their clinical relevance, potentially leading to overestimation of risk, overdiagnosis, and overtreatment

In appraising the value of genetic testing for clinical decision making, consideration must be given to validity, predictive accuracy, clinical utility, potential harms, cost effectiveness, and feasibility of use in routine care

Moving from traditional genetic testing for rare monogenic disorders within families to wider polygenic testing for common diseases in heterogeneous populations requires robust evidence of benefits and harms of this paradigm shift

Increasing numbers of patients and clinicians are undertaking low cost genetic testing in asymptomatic people to identify genetic variants that might predict risk of developing diseases. By early 2018, an estimated one in 25 citizens of the United States had undergone genetic testing, more than double the rate in the previous year.1 Although testing for risk of monogenic diseases such as cystic fibrosis in people with family histories is often appropriate, extending testing for polygenic diseases such as cardiovascular atherosclerosis to people with no family history is problematic and might cause harm.

Tests for approximately 75000 genetic variants are now commercially available from companies such as 23andMe, Navigenics, and deCODE Genetics, which can be ordered on the internet by consumers anywhere in the world and are increasingly advertised in lay media in the US, Canada, Australia, and various European countries.2 These tests aim to predict individual

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Promises and perils of using genetic tests to predict risk of disease - The BMJ

Germline testing for prostate cancer (PCA) is revolutionizing treatment, management, and risk assessment. Pathogenic mutations in multiple DNA repair genes, and particularly BRCA2 and others, are informing targeted therapy options in the metastatic and advanced disease setting, active surveillance discussions in the early-stage setting, and PCA early detection discussions.1 Furthermore, germline testing may identify a spectrum of cancer risks important to address for men and their male and female blood relatives. Many thousands of men with PCA now meet criteria for germline testing due to expanded genetic testing guidelines.2 This rising demand for germline testing has created a relative shortage of genetic counseling impacting timely access to testing that can significantly impact treatment or management plans for men. As such, oncologists and urologists are now increasingly ordering germline testing in their practices, necessitating assessment of practice patterns and responsible implementation of germline testing for PCA.

Our publication Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium (PCCTC)3 investigated practice patterns and barriers to germline testing among academic oncologists at PCCTC participating institutions. Key findings included that (62%) of oncologists at academic centers surveyed reported taking personal responsibility for some or all of the genetic education and testing of their patients with PCA. Furthermore, the majority of oncologists ordered comprehensive or large cancer panels, requiring that men understand considerations of larger panels such as testing of genes with a range of associated risk for PCA and some with limited guidance, higher rates of variants of uncertain significance with larger panels, potential to uncover multiple additional cancer risks beyond PCA, and the implications of test results for blood relatives.

A major practice need is a genetic education of oncologists and urologists in order to gain a working knowledge of germline testing, responsibilities of ordering providers, and familial impact.1The collection of family history is a key aspect of germline testing and recommendations due to the hereditary nature of germline testing. Providers need to consider optimal ways to collect family history in their practices and how best to collaborate with genetic counselors to address comprehensive recommendations for men and their families. Laboratory selection for testing is critical. Choosing a lab with long-standing experience with germline testing, full gene sequencing, and assessment, a variant reclassification program, and panel options is important to identify pathogenic mutations and have long-term variant updates.

Some patients may need to see a genetics professional upfront due to complex family history, psychosocial needs, and insurance constraints. While several insurance plans cover genetic testing for PCA, many still do not cover testing for men with PCA or require a visit with a genetic counselor to cover testing. Men also need to understand the potential financial implications of testing, which is critical for men who are long-term PCA survivors or men who are otherwise healthy. The Genetic Information Nondiscrimination Act (GINA) of 2008 provides protections from genetic discrimination regarding health insurance and employment (except for small businesses with fewer than 15 employees). However, the GINA law does not cover long-term care, disability, or life insurance plans.

Finally, germline testing has implications regarding additional cancer risks for men and their families with potential management implications. For example, men with germline BRCA2 mutations may be at increased risk not only for PCA, but also pancreatic cancer, male breast cancer, and melanoma. Therefore, men with BRCA2 mutations would not only need PCA risk or treatment addressed, but also screening for male breast cancer with clinical breast exams and pancreatic cancer screening if there is also a family history of pancreatic cancer.Female relatives who inherit BRCA2 mutations are at increased risk for cancers of the breast, ovary, pancreas, and melanoma with significant management and risk reduction decisions to consider.4 Thus, oncology and urology practices who undertake ordering germline testing need to have mechanisms in place either within their practices or in collaboration with genetic counselors to address these and many other genetically-related issues.

New initiatives are emerging to enhance the field of germline testing for PCA. Technology-based tools may be helpful in facilitating family history collection, genetic education, and identification of men with PCA for germline testing. Dr. Giri is leading a team of investigators to develop a mobile-friendly tool for providers regarding germline PCA testing. This tool will undergo user testing as part of the Technology-enhanced AcceleRation of Germline Evaluation for Therapy The TARGET study, a nationally-funded study from the Prostate Cancer Foundation (2019 Prostate Cancer Foundation VAlor Challenge Award - Principal Investigator: Giri and Co-Principal Investigator: Loeb). Similarly, Dr. Paller and Dr. Cheng are leading the PROMISE registry: A Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness with the help of the PCCTC which will focus on identification, recruitment, and treatment response of germline carriers and selected variants of uncertain significance in genes of interest.5

The registry will help provide education about genes and match patients with the proper treatment or trial based on their mutation. Dr. Giri is leading the upcoming Prostate Cancer Genetic Risk, Experience, and Support Study: PROGRESS Registry. This national registry will collect information from men who have had germline testing for PCA and assess their experience with testing from various clinical settings to rapidly inform responsible PCA germline testing. Furthermore, the 2019 Philadelphia Prostate Cancer Consensus Conference addressed implementation of germline testing for PCA, focused on topics such as optimal testing strategies, testing indications, and alternate genetic evaluation models to meet the needs of men with PCA and their families regarding germline testing.6 Results from the conference will be forthcoming in publication.

Written by:Veda N. Giri, MD, Associate Professor, Director of Jefferson Clinical Cancer Genetics Service, Jefferson University Physician, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania; Heather H. Cheng, MD, PhD, Director of the Prostate Cancer Genetics Clinic, Seattle Cancer Care Alliance, Associate Professor, Division of Medical Oncology, University of Washington School of Medicine, Associate Member, Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington; Channing J. Paller, MD, Medical Oncologist, Sibley Memorial Hospital, Washington D.C., USA, Associate Professor of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland

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Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate...

My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.

LEIDEN, Netherlands and CAMBRIDGE, Mass, Feb. 06, 2020 (GLOBE NEWSWIRE) -- ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA medicines for severe genetic rare diseases, announced today its participation in the Foundation Fighting Blindness My Retina Tracker Program, a collaborative, open access program run by Blueprint Genetics and InformedDNA providing no-cost genetic testing and genetic counseling for individuals with a clinical diagnosis of an inherited retinal disease (IRD) such as Lebers congenital amaurosis (LCA) and Usher syndrome, amongst others.

Many people diagnosed with an IRD have not received genetic testing. In absence of knowing the genetic mutation, eligibility for clinical trials or available treatments is more difficult to determine. Genetic testing in the My Retina Tracker Program is performed by Blueprint Genetics and tests a broad panel of known mutations causing IRDs, including mutations causing LCA10, Usher syndrome, and retinitis pigmentosa for which ProQR is developing medicines. As a partner of the program ProQR has access to expert physicians and de-identified data from specific participating IRD patients, which would facilitate efforts to advance new treatments for IRDs.

Daniel de Boer, Chief Executive Officer of ProQR, said, We are honored to be the first industry partner for the My Retina Tracker Program as we strive to be at the forefront of the IRD field with a patient-focused approach. Genetic testing is crucial to receiving an accurate diagnosis and to then move forward with the best care.

The My Retina Tracker Program is a key initiative that supports the development of treatments and cures for inherited retinal diseases and we are delighted to be expanding our partnership with ProQR, says Brian Mansfield, Executive Vice President Research, Interim Chief Scientific Officer of the Foundation Fighting Blindness. As part of the program, the My Retina Tracker Registry has over 15,000 patients registered, which is the most comprehensive international patient database with individuals affected with an IRD.

With over 7,000 patients tested to date, and hundreds more tested monthly, this program provides IRD patients with the highest-quality test available in the market, while setting a high standard for patient data privacy practices. We are happy to have ProQR join our efforts to provide IRD patients with easier access to genetic diagnostics, improve access to clinical trials and facilitate therapeutic development in IRDs associated with CEP290, RHO and USH2A genes. The My Retina Tracker Program is currently the most effective pathway for Biopharma to enhance patient identification, said Tero-Pekka Alastalo, Executive Director, Medical at Blueprint Genetics.

About My Retina Tracker Program

The My Retina Tracker Program offers an open access, no-cost genetic testing and genetic counseling for individuals living in the United States with a clinical diagnosis of IRDs. The program offers people with an IRD access to the highest quality genetic testing and genetic counseling. InformedDNA provides genetic counseling by certified genetic counselors with IRDs expertise. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry. This gives individuals the opportunity to contribute to focus groups, patient journey analyses, research studies, and the opportunity to be enrolled in relevant natural history studies and clinical trials.

The program provides patients with a 285 gene panel targeting relevant genes associated with IRDs. Unique features of the panel include full RPGR coverage, high resolution copy number variant detection and comprehensive coverage of IRDs related non-coding variants. Customized detection of non-coding variants is critical for diagnosis of IRDs, especially with genes such as USH2A, CEP290 and RHO. The current panel will include mitochondrial DNA testing to further enhance the clinical utility and quality of the test.

For more information on the My Retina Tracker Program, please visit https://www.fightingblindness.org/open-access-genetic-testing-program

About ProQR Therapeutics

ProQR Therapeutics is dedicated to changing lives through the creation of transformative RNA medicines for the treatment of severe genetic rare diseases such as Lebers congenital amaurosis 10, Usher syndrome and autosomal dominant retinitis pigmentosa. Based on the unique proprietary RNA repair platform technologies, they are growing their pipeline with patients and their loved ones in mind. http://www.proqr.com

About the Foundation Fighting Blindness

Established in 1971, the Foundation Fighting Blindness is the worlds leading private funding source for retinal degenerative disease research. The Foundation has raised more than $760 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, age-related macular degeneration, Usher syndrome, and Stargardts disease. Visit FightingBlindness.org for more information.

About Blueprint Genetics

Blueprint Genetics is one of the fastest growing genetic diagnostics businesses globally in the field of clinical genetic testing of rare inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries. http://www.blueprintgenetics.com.

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ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker Program for People Living -...

Like most medical students, I struggled to memorize the Krebs cycle, the complex energy-producing process that takes place in the body's mitochondria. Rote learning of Sir Hans Krebs' eponymous cascade of reactions persists and has been cited as a waste of time in modern medical education. However, it looks like that specialized knowledge about mitochondrial structure and function may finally come in handy in the clinic.

Advances in genetics have contributed to improved diagnostic accuracy of a diverse spectrum of mitochondrial disorders. Respiratory chain, nuclear gene, and mitochondrial proteome mutations can lead to multisystem or organ-specific dysfunction.

A new potential treatment for mitochondrial disorders, elamipretide, has received orphan drug designation from the US Food and Drug Administration (FDA) and is in clinical trials sponsored by Stealth Biotherapeutics. [Dr Wilner has consulted for Stealth Biotherapeutics.] Recently I had the opportunity to interview Hilary Vernon, MD, PhD, associate professor of genetic medicine at Johns Hopkins University, Baltimore, Maryland, and an expert on mitochondrial disorders. Dr Vernon discussed her research on elamipretide as a treatment for Barth syndrome, a rare form of mitochondrial disease.

I am the director of the Mitochondrial Medicine Center at Johns Hopkins Hospital. I work with individuals from infancy through adulthood who have mitochondrial conditions. I became interested in this particular area when I was early in my pediatrics/genetics residency at Johns Hopkins and saw the toll that mitochondrial disorders took on patients' lives and the limited effective therapies. At that point, I decided to focus on patient care and research in this area.

Mitochondrial disorders can be difficult to recognize because of their inherent multisystem nature and variable presentations (even between affected members of the same family). However, there are several considerations that should raise a clinician's suspicion for a mitochondrial condition. Ascertaining a family history of disease inheritance through the maternal line can raise the suspicion for a mitochondrial DNA disorder. Identification of a combination of medical issues in different organ systems that are seemingly unrelated in an individual (ie, optic atrophy and muscle weakness or diabetes and hearing loss) can also raise suspicion for a mitochondrial condition.

Due to the nature of mitochondria as the major energy producers of the cells, high-energy-requiring tissues such as the brain and the muscles are often affected. Perhaps the best known mitochondrial diseases to neurologists are MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke) as well as MERFF (myoclonic epilepsy with ragged red fibers). There is a nice body of literature on the effects of arginine and citrulline in modifying stroke-like episodes in MELAS, and this is a therapy that is in current practice.

Mitochondria are complex organelles whose structure and function are encoded in hundreds of genes originating from both the nucleus of the cell and the mitochondria themselves. Mitochondria have many key roles in cellular function, including energy production through the respiratory chain, coordination of apoptosis, nitrogen metabolism, fatty acid oxidation, and much more.

Various cofactors and vitamins can be employed to improve mitochondrial function for different reasons. For example, if a specific enzyme is dysfunctional, supplying the cofactor for that enzyme may improve its function (ie, pyruvate dehydrogenase and thiamine). Antioxidants have also been considered to help reduce the oxidant load that could potentially cause ongoing damage to the mitochondrial membrane resulting from respiratory chain dysfunction (ie, coenzyme Q-10).

It is important to remember that the highest number of individual mitochondrial disorders result from mutations in genes located in the nuclear DNA. For example, the TAZ gene that is abnormal in Barth syndrome is a nuclear gene located on the X chromosome. These genes are amenable to the "regular" approaches to gene therapy.

Targeting mitochondrial DNA for gene therapy requires a different set of approaches because the gene delivery has to overcome the barrier of the mitochondrial membranes. However, research is ongoing to overcome these obstacles.

Barth syndrome is a very rare genetic X-linked disorder that usually only affects males. The genetic defect leads to an abnormal composition of cardiolipin on the inner mitochondrial membrane. Cardiolipin is an important phospholipid involved in many mitochondrial functions, including organization of inner mitochondrial membrane cristae, involvement in apoptosis, and organization of the respiratory chain (which is responsible for producing ATP via the process of oxidative phosphorylation), and many of these functions are abnormal in Barth syndrome. Individuals with Barth syndrome typically have early-onset cardiomyopathy, myopathy, intermittent neutropenia, fatigue, poor early growth, among other health concerns.

Early in my post-residency career, I followed several patients with Barth syndrome and was quickly welcomed into the Barth syndrome community by the families and the Barth Syndrome Foundation. From there, I founded the only interdisciplinary Barth syndrome clinic in the US and began to focus a significant amount of my clinical and laboratory research on this condition.

Most commonly, these individuals come to medical attention because of cardiomyopathy, but a minority of patients do come to attention due to repeated infections and neutropenia. Patients were identified for study participation through the Barth Syndrome Foundation or because they were already patients of my study team.

All participants were known to have Barth syndrome prior to study entry, and all had confirmatory genetic testing showing a pathogenic mutation in the TAZ gene.

By binding to cardiolipin in the inner mitochondrial membrane, elamipretide is believed to stabilize cristae architecture and electron transport chain structure during oxidative stress. I thought it would be great if this could help to stabilize the abnormal cardiolipin components on the inner mitochondrial membrane in Barth syndrome.

We observed improvements in several areas across the study population in the open-label extension part of the study. This includes a significant improvement in exercise performance (as measured by the 6-minute walk test, with an average improvement of 95.9 meters at 36 weeks) and a significant improvement in muscle strength. We also observed a potential improvement in cardiac stroke volume. Most of the adverse events were local injection-site reactions and were mild to moderate in nature.

The TAZPOWER trial has an ongoing open-label extension with the same endpoints as the placebo-controlled portion evaluated on an ongoing basis. In addition, in my laboratory, we are using induced pluripotent stem cells to learn more about how cardiolipin abnormalities affect different cell types in an effort to understand the tissue specificity of disease. This will help us to understand whether different aspects of Barth syndrome would necessitate individual management or clinical monitoring strategies.

Mitochondrial inner membrane dysfunction is increasingly recognized as a major aspect of the pathology of a wide range of mitochondrial conditions. Therefore, based on the role of stabilizing mitochondrial membrane components, elamipretide has a potential role in many disorders of the mitochondria.

Yes, this is what we would call "secondary mitochondrial dysfunction" (meant to differentiate from "primary mitochondrial disease," which is caused by defects in genes that encode for mitochondrial structure and function). Approaches intended to protect the mitochondria from further damage, such as antioxidants or strategies that can bypass the mitochondria for ATP production, could overlap as treatment for primary mitochondrial disease and secondary mitochondrial dysfunction.

This is something that is much discussed as a newer consideration for families who are affected by disorders of the mitochondrial DNA, but not something I have experience with firsthand.

Yes. The United Mitochondrial Disease Foundation and the Mitochondrial Medicine Society collaborated to develop the Mito Care Network, with 19 sites identified as Mitochondrial Medicine Centers across the US.

Andrew Wilner is an associate professor of neurology at the University of Tennessee Health Science Center in Memphis, a health journalist, and an avid SCUBA diver. His latest book is The Locum Life: A Physician's Guide to Locum Tenens.

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Maybe Memorizing the Krebs Cycle Was Worthwhile After All - Medscape

As of February 7 at 13:00 UTC, Chinas National Health and Health Commission had received a total of 31,261 confirmed cases of the 2019 Novel Coronavirus (2019-nCov) outbreak and 26,359 suspected cases, which was a leap of 4,833 from the day before. As of February 8 at 03:00 UTC the 2019-nCoV had killed 725 people, all but one of them in China.

Like SARS, HIV, Ebola, and influenza, the 2019-nCoV is an RNA virus. Its single-strand structure makes it more susceptible to mutation and more difficult to develop vaccines for. In mid-January, Chinese scientists isolated the first 2019-nCoV strain and published its genetic sequence to aid in independent detection of the virus. The World Health Organization categorizes 2019-nCoV risk as Very High in China and High in the rest of the world. Globally, there are now 15 laboratories providing reference testing for the virus.

The crucial step now is to develop matching vaccines and drugs to uproot its existence, and Chinas big tech companies have stepped up to help.

On January 29th Alibaba Cloud made its AI computing capabilities free to global public research institutions to help expedite virus gene sequencing, new drug R&D, and protein screenings. The cloud arm of Chinas e-commerce giant has already broken the world record for high-precision whole-genome sequencing doing in 15 minutes what used to take scientists 120 hours.

Beijing-based Global Health Drug Discovery Institute (GHDDI) and Alibaba Cloud also jointly launched a big data platform archiving historical drug R&D for coronaviruses such as SARS and MERS to make relevant preclinical and clinical information available and provide a platform to study new virus variants.

Coronavirus RNA sequences are very spatially fluid. These structures can determine the function of RNA, which in turn can help in the design of molecular drugs and molecular detectors. Using classic algorithms to recognize the RNA sequence may be prohibitively time-consuming, as the coronavirus genome is one of the longest among all RNA viruses, reaching 30,000 Bases.

Deep learning algorithms are much more adept at such large-scale parallel repetitive calculations: the Baidu linear time LinearFold algorithm takes 27 seconds to solve the RNA secondary structure of the 2019-nCoV 120 times faster than the top classic algorithms. On January 30, Baidu Research Institute opened LinearFold to global genetic testing institutions, epidemic prevention centres and scientific research centres for free. It is hoped this can continue to accelerate research and prediction on the 2019-nCoV RNA structure.

On February 8, Baidu opened its Smart Cloud Tiangong IoT platform to epidemic prevention-related projects and national epidemic prevention enterprises as part of the companys AIOT Epidemic Shield Program,

Most Chinese hospitals are presently using the common nucleic acid detection approach to confirm their diagnosis of suspected 2019-nCoV cases. This manual method however can only detect parts of virus genes, and loses accuracy when facing mutations. From a patients perspective, nucleic acid detection also means waiting many hours for diagnosis confirmation, and potentially being quarantined even longer in the case of local or regional outbreaks.

All of the Alibaba DAMO Academy AI algorithms employ a whole genome detection approach, whereby the whole genome sequences of a virus are considered. This method can effectively prevent errors such as false negatives caused by virus mutation, and reduce the time required for genetic analysis of suspected cases to about 30 minutes.

The technology is now available on an automated genome detection and analysis platform jointly launched by the Zhejiang Province Centers for Disease Control and Prevention, Alibaba Medical AI team, and Jieyi Biotechnology Company.

Source: Synced China

Localization: Meghan Han | Editor: Michael Sarazen

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Battling the Coronavirus: Alibaba and Baidu AI Accelerate Vaccine and Drug R&D - Synced

Call us biased, but the skincare industry, in particular, is one of our favorites to watch when it comes to technological advancements. From laser zapping to weird-looking at-home devices, the anti-aging sphere is constantly evolving, with new treatments and procedures being launched on the daily. Just 10 years ago, Blackberries (the phone, not the fruit Gisele Bndchen says she avoids) were still the epitome of cool, and no one except makeup artists ever used the word contouring. Ten years from today, will wrinkles, dark spots, and sagging be a thing of the past? Its a slightly exhilarating (and also completely terrifying) thought.

As beauty editors, its our job to stay on top of all thats new in the quest for younger, tauter skin. Right now, were intrigued by a new ingredient trend thats very unexpected (yes, even compared to salmon sperm): human stem cells. Yeah, well let that sink in for a minute. If applying a strangers stem cells on your face sounds creepy or the start of a very niche horror movie, youll want to keep readingthe information ahead might just change your mind. We asked Dr. Hal Simeroth, founder of Stemology skincare and possessor of a Ph.D. in Bioethics, to tell us if human stem cells (and their extracts) are the key to eternal youthor, at the very least, a more prolonged youth. Ready to get really scientific?

Keep scrolling to school yourself on this anti-aging trend.

Everyone likely has a vague notion of what stem cells are, but its probably best to let an expert explain. The term stem cells refers to a rather broad category of cells that participate in tissue generation, regeneration, and renewal, Hal says. In other words, they are the cells that help you, your dog, and the tomatoes in your vegetable garden heal; humans, animals, and plants all have these types of cells. And this is what makes stem cells special: theyre undifferentiated and have the invaluable properties of self-renewal and differentiation, according to Hal. In laymans terms, this means they have the much-coveted ability to divide to make more stem cells, and more stem cells you get the idea. Human stem cells are divided into three primary categories: embryonic, which are the initial stem cells after birth that control the development into a human baby; adult mesenchymel stem cells, which exist in our bodies and are responsible for the repair and renewal of structural tissues; and tissue-specific stem cells, which only repair and rejuvenate specific tissues such as your skin. Remember these, because well touch on them again later.

Before we dive headfirst into human stem cells, lets first talk about plant stem cells. In the skincare industry, theyre the popular crowd: Theyve largely been accepted and welcomed with open arms, touted for their skin-regenerating abilities. The idea is that if this stem cell helps a flower flourish in the freezing temps in some far-off exotic locale, then it must be able to keep your skin dewy and glowing too. But does that logic really make sense? According to Hal, not really. Its false at a primary level, but true at a secondary level, he says. Um, what? The directing of repair and renewal by plant stem cells within the plant is orchestrated by cellular signals that would not be recognized by human cells, he says. Plant stem cell material cannot mimic the activity of our stem cells in the human body in a primary way. There are genetic boundaries that cannot be crossed. So, just because rose stem cells can help a rose grow and flourish doesnt mean it can do the same for your skin. However, Hal does say that some plant stem cells do provide nutrients and metabolites that have been shown to stimulate human epidermal stem cell productionthus, the secondary way he mentions. Either way, he says to always check to see if a plant stem cell material in your skincare product that promises to plump your skin is backed up by scientific research and clinical testing (a quick Google search should yield results).

Now that weve covered plant stem cells, lets dive right into the nitty-gritty and talk human stem cells. Hal mentions adult mesenchymal stem cells (MSC) specifically, citing many research studies and scientific papers published over the last two decades about their ability to be the natural healers of all our bodys structuresmuscle, bone, skin, neural tissue and more. Because of their potent ability to rejuvenate and repair, and also because they do not carry the negative ethical stigma of embryonic stem cells harvested from human embryos, they have been embraced by many for use in potential clinical protocols, Hal explains. Right now, these human stem cells have already been in practice in Europe with success and are currently in FDA-approved testing programs in the U.S. Without getting too technical, heres how these MSCs work. Like a master coordinator, MSCs respond to biochemically transmitted needs from any areas of traumafor example, if you get a cut, scrape, or a more severe injury. Sensing the need, the MSCs begin to multiply and release different biochemical signals to bring on other anti-inflammatory and immune cells, like a commander rallying his troops to fight a battle. Thus, it would be logical to assume that this healing, regenerating ability that works with wound-healing can also apply to overall skin renewal. We can conclude from a large body of scientific evidence that MSCs do their work by releasing messengers and helpers such as growth factors, peptides, and matrix proteins that provide rejuvenating instructions and assistance to the targeted body cells, Hal says. As we age, these "messenger" proteins the MSCs attract might just be the key to helping our skin renew (read: stay wrinkle-free).

Stemologys hero product (and the product that inspired this story) is their Cell Revive Serum Complete ($189), which lists human stem cell-derived conditioned media as the number two ingredient after aloe. Notice how it's a human stem cell-derived mediaand not an actual human stem cell. So, what's the difference? Actual human stem cells can actually be grown outside of the body by stimulating human body conditions, and can create a massive number of cells since theyre self-renewing; a single original MSC can generate large numbers of offspring cultures that grow naturally and are encouraged to secrete the helpers and messengers we mentioned earlier. Those growth factors, cytokinal peptides, matrix proteins, and helper molecules are the human stem cell-derived conditioned media. Under controlled conditions, the MSCs are completely removed, so that there are no actual cellular components, and the harvested small secreted proteins are retained in this conditioned medium, Hal says. This conditioned medium contains all the important, renewing and healing components originally drawn to the human stem cell, which can be integrated into a skincare formula and penetrate the skin. Whewyou still with us?

So, the catch is that as of now, there are no actual human stem cells used in products in the U.S. In fact, Hal says actual human stem cells are not suitable for topical skin care applications since they are fragile and easily destroyed, as well as too large to be absorbed. Instead, brands like Stemology will extract one human stem cell to grow hundreds more, which in turn generates the helper ingredients that plump your skin. The result? More youthful skinat least according to science. Hal cites one published study that confirms the application of topical growth factors from MSC stimulate the repair of facial photo-aging resulting in new collagen synthesis, epidermal thickening, and the clinical appearance of smoother skin with less visible wrinkles.

So, no actual human stem cells are being used in topical skincare (yet). But what about all those self-generating powers and benefits we mentioned earlier? Human stem cell extracts sound great, but what about the real dealthe genuine original? Dr. Christopher Calapai, D.O. and stem cell expert says that actual human stem cells can disrupt the skincare industry, but only under three conditions: theyll need to be from a human who is preferably the one seeking the treatment, alive, and delivered directly to the skin (most likely with an injection). Otherwise, the stem cells are simply too large to penetrate the skins surface, and will just sit there instead of absorbing and encouraging other cells to regenerate (which they'll slowly do less and less of with time).

Until the FDA approves those things, well be giving products with human skincare extracts our attention. And, who knowsthe time when injecting your own stem cells back into your skin might be sooner than you think (a fact we cant decide whether thrills or frightens us).

StemologyCell Revive Serum Complex$189

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Human Skin Cells: The Next Anti-Aging Frontier?

Electron micrograph showing ridges and grooves on MAP hydrogel microbeads caused by developing stem cells.

Courtsey of Daniel Alge

Baby diapers, contact lenses and gelatin dessert. While seemingly unrelated, these items have one thing in common theyre made of highly absorbent substances called hydrogels that have versatile applications. Recently, a type of biodegradable hydrogel, dubbed microporous annealed particle (MAP) hydrogel, has gained much attention for its potential to deliver stem cells for body tissue repair. But it is currently unclear how these jelly-like materials affect the growth of their precious cellular cargo, thereby limiting its use in regenerative medicine.

In a new study published in the November issue of Acta Biomaterialia, researchers at Texas A&M University have shown that MAP hydrogels, programmed to biodegrade at an optimum pace, create a fertile environment for bone stem cells to thrive and proliferate vigorously. They found the space created by the withering of MAP hydrogels creates room for the stem cells to grow, spread and form intricate cellular networks.

Our research now shows that stem cells flourish on degrading MAP hydrogels; they also remodel their local environment to better suit their needs, said Daniel Alge, assistant professor in the Department of Biomedical Engineering. These results have important implications for developing MAP hydrogel-based delivery systems, particularly for regenerative medicine where we want to deliver cells that will replace damaged tissues with new and healthy ones.

MAP hydrogels are a newer breed of injectable hydrogels. These soft materials are interconnected chains of extremely small beads made of polyethylene glycol, a synthetic polymer. Although the microbeads cannot themselves cling to cells, they can be engineered to present cell-binding proteins that can then attach to receptor molecules on the stem cells surface.

Once fastened onto the microbeads, the stem cells use the space between the spheres to grow and transform into specialized cells, like bone or skin cells. And so, when there is an injury, MAP hydrogels can be used to deliver these new cells to help tissues regenerate.

However, the health and behavior of stem cells within the MAP hydrogel environment has never been fully studied.

MAP hydrogels have superior mechanical and biocompatible properties, so in principle, they are a great platform to grow and maintain stem cells, Alge said. But people in the field really dont have a good understanding of how stem cells behave in these materials.

To address this question, the researchers studied the growth, spread and function of bone stem cells in MAP hydrogels. Alge and his team used three samples of MAP hydrogels that differed only in the speed at which they degraded, that is, either slow, fast or not at all.

First, for the stem cells to attach onto the MAP hydrogels, the researchers decorated the MAP hydrogels with a type of cell-binding protein. They then tracked the stem cells as they grew using a high-resolution, fluorescent microscope. The researchers also repeated the same experiment using another cell-binding protein to investigate if cell-binding proteins also affected stem cell development within the hydrogels.

To their surprise, Alges team found that for both types of cell-binding proteins, the MAP hydrogels that degraded the fastest had the largest population of stem cells. Furthermore, the cells were changing the shape of the MAP hydrogel as they spread and claimed more territory.

In the intact MAP hydrogel, we could still see the spherical microbeads and the material was quite undamaged, Alge said. By contrast, the cells were making ridges and grooves in the degrading MAP hydrogels, dynamically remodeling their environment.

The researchers also found that as the stem cells grew, the quantity of bone proteins produced by the growing stem cells depended on which cell-binding protein was initially used in the MAP hydrogel.

Alge noted that the insight gained through their study will greatly inform further research and development in MAP hydrogels for stem-cell therapies.

Although MAP hydrogel degradability profoundly affects the growth of the stem cells, we found that the interplay between the cell-binding proteins and the degradation is also important, he said. As we, as a field, make strides toward developing new MAP hydrogels for tissue engineering, we must look at the effects of both degradability and cell-binding proteins to best utilize these materials for regenerative medicine.

Other contributors to the research include Shangjing Xin from the Department of Biomedical Engineering at Texas A&M and Carl A. Gregory from the Institute for Regenerative Medicine at the Texas A&M Health Science Center.

This research was supported by funds from theNational Institute of Arthritis and Musculoskeletal and Skin Diseasesof the National Institutes of Health.

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Researchers Explore Hydrogels That Are Promising Materials For Delivering Therapeutic Cells - Texas A&M University

AESTHETICS medicine encompasses non-invasive treatments that do not involve surgery and aim to improve or correct the appearance of patients. Less intensive than cosmetic surgery, aesthetics medicine procedures are carried out by doctors to give natural and reversible results. Depending on your areas of concern, different techniques may be employed in combination to produce the best results - there is no "cookie-cutter" approach to your skincare needs.

Our skin has three layers:

The epidermis, the outermost layer of skin, provides a waterproof barrier to protect our body from germs and harmful UV rays. Its bottom-most layer makes new skin cells, and these skin cells travel up to the top layer and flake off, about a month after they form. It also gives you your skin colour, due to the presence of special cells called melanocytes, which produce the pigment melanin.

The dermis, the middle layer, contains tough connective tissue, blood vessels, hair follicles, and sweat glands.

The hypodermis, the innermost layer, is made of fat and connective tissue.

Ageing happens in every layer of the skin. Changes within the skin's layers show themselves on the surface as signs of ageing.

In the epidermis, a slower cell turnover and reduction in lipid production on the skin's surface means rough and dry skin as we age. Our skin is less efficient at repairing itself from harmful infections and UV rays. This causes pigmentation problems, like sunspots.

In the dermis, from the age of 25, there is a 1 per cent annual decrease in collagen, one of the "building blocks" of the skin. Elastin also decreases as we age. Hence, the structure of the skin is compromised, and wrinkles and saggy skin start to appear.

In the deeper layers, the hypodermis, the changes to the size and number of fat cells leads to deep wrinkles and hollow cheeks.

Skin ageing manifests by:

Fine lines and wrinkles: The first noticeable sign of ageing from 25 onwards are fine lines and wrinkles, especially around your eyes. Your dermis, the second layer of your skin, contains the collagen and elastic fibres that keep young skin plump, taut and wrinkle-free. The amount of collagen and elastic fibres in your dermis dwindles as the years roll on. As a result, your skin becomes less elastic, sags and you start to see the tell-tale signs of wrinkles.

Open pores and sagging skin: Ageing causes your skin to lose its elasticity, which stretches your pores and make them look larger. The accumulation of excess oil, dead skin cells and dirt trapped inside your pores also enhances their appearance. Hormonal changes such as pregnancy, menstruation and puberty can also enlarge your pores.

Dry and dull skin: Your epidermis forms the outer layer of your skin - a physical barrier from the external environment. On average, your body will produce an entirely new epidermis about every 60 days. Cells on the surface of your skin rub and flake off, continuously being replaced with new ones from below.

As you get older, it takes longer for your epidermis to renew itself, hence, more dead skin cells accumulate on the top layer of our skin. This diffuses light away and produces a dull skin tone. In addition, as we age, oil production slows down and this makes our skin dry - we soon lose that "Korean glass-skin effect".

Hyperpigmentation

Melanocytes located in the epidermis produce pigment called melanin. Hyperpigmentation is caused by an overproduction of melanin in patches of the skin.

This overproduction is triggered by a variety of factors, including sun exposure, genetic factors, age, hormonal influences, and skin injuries or inflammation.

Common types of hyperpigmentation encountered in our population are:

Melasma: Melasma is a common skin problem among Asians. Women are far more likely than men to get melasma, especially during pregnancy. They present as brown to gray-brown patches, usually on the face. Most people get it on their cheeks, nose bridge, forehead, chin, and above their upper lip. It also can appear on other parts of the body that are exposed to sunlight, such as the forearms and neck.

Solar lentigo: Solar lentigo, also known as age spots, are non-cancerous lesions that occur on the sun-exposed areas of the body. These flat lesions usually have well-defined borders, are dark in colour, and have an irregular shape. The backs of hands and face are common areas.

The lesions tend to increase in number with age, making them common among the middle age and older population. Age spots occur in 50 per cent of women and 20 per cent of men over the age of 50, due to stimulation from UV rays.

Post-inflammatory hyperpigmentation (PIH): It is temporary pigmentation that follows injury, for example, a cut to the skin, or inflammation of the skin, for example, acne or eczema. PIH can occur in anyone, but is more common in darker-skinned individuals, in whom the colour tends to be more intense and persist for a longer period than in lighter skin.

Freckles: Freckles are common, especially among fairer-skinned individuals. They start early on in life, even in childhood, and are due to your genetic makeup and sun exposure.

Dull skin, enlarged pores, pigmentation - How can they be corrected?

Avoid sun exposure: Sun exposure is the main cause of ageing. Choose a sunscreen with "broad spectrum" protection, meaning that it protects against both UVA and UVB rays. UVA rays also contribute to skin cancer and premature aging, UVB rays are the main cause of sunburn and skin cancers.

Ensure your sunscreen has a SPF30 or higher. Physical sunscreen, those that contain zinc oxide or titanium dioxide, provide better sun protection compared to chemical sunscreens, and are less likely to clog pores and cause pimples.

Protect your eyes with sunglasses and cover up with a wide-brimmed hat or an umbrella. Limit your direct exposure to the sun, especially between 10am and 4pm, when UV rays are strongest. Avoid tanning beds, which can cause serious long-term skin damage and contribute to skin cancer.

Lightening creams: Abnormal accumulation of melanin results in hyperpigmentation. Lightening creams contain ingredients to reduce the production of melanin. Powerful lightening creams are available through a prescription from a doctor, while milder ingredients do not require a prescription.

Hydroquinone is a major ingredient in lightening creams. However, frequent adverse reactions experienced by patients, such as skin irritation and inflammation, have prompted research into other agents. Several alternatives such as tranexamic acid, and 4-n-butyl resorcinol, arbutin and kojic acid have been developed.

Lasers: There are many different lasers in the market, for many different types of indications. The property of the laser, which determines what it is used for, is the specific wavelength it emits. Different structures in the skin will absorb light energy at different wavelengths. Therefore, in pigmentation treatments, we can deliver light energy at the correct wavelength to heat up the pigmentation, while sparing the other nearby structures that absorb different wavelengths.

The pigmentation absorbs the light energy and is broken up into small fragments and eventually is cleared from the skin.

My personal favourite protocol is to use two very effective lasers for pigmentation treatment, via a Rejuvenation Laser protocol.

The Nd:YAG laser emits wavelengths of 1064nm and 532nm. It is a gentle cleansing machine that helps to remove surface dirt and oil, cleanse your skin, dry up pimples, build collagen and is very effective to break up pigmentation into small fragments.

The yellow laser, made in Germany, emits a wavelength of 577nm. It helps with improving radiance, giving you radiant skin, reducing redness and effectively vaporising pigmentation.

The Rejuvenation Laser is non-ablative, gentle and has no downtime.

Combined with a potent post-procedure serum, it synergistically enhances the anti-ageing effect of the laser protocol. The serum employs proteins secreted by umbilical cord-lining stem cells to produce collagen, restore healthy skin function and treat symptoms of ageing.

This series is produced in collaboration with The Aesthetics Medical Clinic

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Aesthetic treatments can help you maintain your youthful glow - The Business Times

Contrary to what you've probably (definitely) read on the internet, there is at least one benefit to the month with an average national contiguous temperature of 32 degrees. It is that you are automatically granted the excuse to send that "raincheck? lol" text any chilly evening you so choose, and instead snuggle up with your ugliest jogger sweatpants, a glass of Rioja, and brand-new skincare products. (It's called self-care, look it up.)

With the plethora of face creams, cleansers, serums, treatments, and oils hitting the market this February, however, it can be hard to decide which formulas are truly deserving of your Friday night. That's why we've asked our beauty editors to share their favorite at-home spa-day indulgences ahead, so you can stock up on the skincare products worth canceling all your plans for this month. (Well, at least until your friends start responding with the eye roll emoji.)

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17 Brand-New Skincare Products Our Editors Are Using to the Very Last Drop This Month - POPSUGAR

Do you ever wonder why celebrities are never seen with dark circles under their eyes? Well, we discovered the secret behind the flawless complexions of the rich and famous and its something you can use at home.

After we were especially impressed by the performance of Cardi Bs enviable complexion on the red carpet ahead of the Grammy Awards a few weeks ago, we investigated her skincare routine. As it turns out, this pop stars go-to treatments are Lancer Method 3-step regimen and Dr. Lancers Eye Lifting Cream for an extra boost under the eyes.

These impressive at-home skincare products are designed to promote a youthful appearance in the skin by supporting collagen regeneration and speeding up cell turnover. The result is skin that looks and feels younger, in a natural way.

Lancer The Method: Normal-Combination Set ($255)

Everything You Need To Know About The Lancer Method

The Lancer Method works in three steps used once a day to give you glowing, rejuvenated skin. Dr. Harold Lancer explained to SheFinds, The Lancer Method was developed to help skin act younger by accelerating cell turnover, supporting natural collagen regeneration, and feeding skin essential nutrients. Polish is a dual-action exfoliator that improves the look of fine lines, texture, discoloration and pores for a smoother, younger-looking complexion.

The hydrating, pH-balanced cleanser comes next and gently removes makeup, dirt and oil for a fresh, healthy-looking complexion. Nourish is an ultra-hydrating moisturizer that reduces the look of fine lines and wrinkles while delivering essential nutrients for a dewy and glowing appearance.

Lancer Eye Contour Lifting Cream ($95)

What The Dr. Lancer Eye Lifting Cream Does

Even with the best daily anti-aging skincare routine, we all need to give a little extra love to the skin under our eyes from time to time. This skin is extra sensitive and therefore, more prone to the effects of stress and environmental damage. Dr. Lancers Eye Lifting Cream specifically targets this area to brighten and smooth the skin to reduce the appearance of aging.

Eye Contour Lifting Cream is a triple-action eye treatment and hydrator that targets multiple eye are concerns for a brighter, more youthful experience, Dr. Lancer said. Its proprietary complexes work to improve the appearance of fine lines, wrinkles, puffiness, dark circles and loss of elasticity. When used together, this powerful combination of products targets all areas of the face and top skincare concerns, leaving you with a clear and youthful complexion.

Dr. Lancer said that the best way to promote a youthful glow in your skin is to use hyaluronic acid, peptides, vitamins A, C and E and bioactive phytocompounds.

Hyaluronic Acid is a component of connective tissues that cushions and hydrates. Hyaluronic Acid is found in the skin naturally, but decreases with age so it is important to replenish it topically in conjunction with other ingredients to treat wrinkled skin, Dr. Lancer explained. Peptides are short snippets of linked amino acids reduce the appearance of wrinkles and fine lines as they stimulate collagen production. Vitamins A, C and E are antioxidants that prevent free radical damage and combat oxidation.

And bioactive phytocompounds have been isolated from natural plant sources- some examples: natural fruit enzymes, moisturizing ingredients such as sea algae and aloe vera, grape polyphenol, lilac stem cells, skin lighteners from licorice root, anti-inflammatory agents from ginger root, natural tea tree oil, chamomile oil and marula oil.

Link:
The Eye Contour Cream Celebrities Swear By To Look FLAWLESS On The Red CarpetIt Works Immediately! - SheFinds

Its no secret that loading your plate with fruits and vegetables and eschewing processed meat products is good for your insides. But is a vegan diet good for healthy skin, too?

Many celebrities say that it is; Natalie Portman and Billie Eilish have noticed significant improvements in their skin since going vegan and cutting out dairy.

Portman told the Cut a few years ago, Im vegan and I found my skin is much, much better than when I was a vegetarian. I cut out dairy and eggs, and I never had a breakout after. Eilishwho went vegan for ethical reasonssaid in a Tumblr post in 2018, Im lactose intolerant and dairy is horrible for your skin and my skin is VERY aware of that.

But its not just celebrities who think veganism is good for your skin, experts agree that theyre onto something. Blade Tiessena medical aestheticianwho owns the Ontario-based Anti-Aging Clinic and has worked in skincare for 33 yearsbelieves that ditching animal products for a healthy vegan diet can have a dramatic effect.I say this from both personal and professional experience. I suffered from acne since my early teens until months after going vegan at 35, being in the industry I had every treatment and product at my disposal over the years, he told LIVEKINDLY. Some helped to keep breakouts under control but nothing solved the issue permanently until shortly after becoming vegan.

Multiple studies say that ditching dairy could help acne-sufferers. Acne is the most common skin condition in the United States; it affects around 50 million Americans every year.

There are a few different theories on why dairy can cause an acne flare-up; some studies suggest that hormones in cows milk are the culprit. These hormones are intended to stimulate growth in calves. When humans ingest them, they release insulin, which can trigger breakouts.

According to a medically-reviewed article on Healthline, sometimes the hormones in milk can also interact with our own hormones, confusing our bodys endocrine system and signaling breakouts.

Nonprofit PlantPure Communities (PPC) recently launched a social media campaign called Ditch Dairy for Clearer Skin. The campaign aims to educate the public about the link between acne and dairy consumption.

In a supporting article, pediatrician Dr. Jackie Busse, MD, FAAP, says, removing dairy is the first and most important dietary change you should make to prevent and treat acne.

A vegan diet could also help people who suffer from eczemaa condition where patches of skin become inflamed, itchy, and cracked. According to Healthline, a handful have studies have shown that a raw, vegan diet, in particular, can be very beneficial, although there isnt conclusive evidence.

Plant-based foods have also been linked with easing psoriasis, an immune-mediated disease. Similar to eczema, it causes raised red flaky patches to appear on the skin.

Eating a whole food plant-based diet can help psoriasis sufferers because it is naturally low in inflammatory foods, says dietician Deirdre Earls, RD, LD. She was once hospitalized with psoriasis as a child, but switching to a plant-based diet helped her manage the condition effectively.

She told Everyday Health,I drastically changed my diet. I took all of the diet coke, all of the ultra-processed stuff out, and then I replaced it with simple, whole, mostly plant-based foods. Within six months, my skin had cleared.She added,psoriasis is an inflammatory condition, so anything you can do to cut down on inflammation should help.

Reality TV personality and entrepreneur Kim Kardashian-West has suffered from psoriasis for more than a decade and was recently diagnosed with psoriatic arthritis. She opened up on sister Kourtney Kardashians website Poosh about her battle with the disease, and how switching to a plant-based diet has helped her.

I love a healthy life and try to eat as plant-based as possible and drink sea moss smoothies,she said, adding that she also tries to keep her stress levels to a minimum.I hope my story can help anyone else with an autoimmune disease feel confident that there is light at the end of the tunnel.

Eating vegan foods can help with painful conditions, but they can also just make your skin glow too.

According to Tiessen, patients who follow a vegan diet achieve superior skin results to those who do not. They also have more energy and they sleep better. He says, eating a healthy vegan diet free of inflammatory foods along with drinking lots of water, sleeping well, exercising, reducing levels of stress, taking care of and protecting your skin will help ensure beautiful glowing skin that will last a lifetime.

He also recommends using cruelty-free vegan skincare products. Skincare should be looked at as nutrition and protection for the skin, he added. Supplying the skin with nutrients from organic plants can offer benefits that are unavailable from chemicals and or animal-based ingredients.

If you want to opt for cosmetic intervention, Tiessens clinicsin Orillia Ontario and Port Severn Ontariooffer many cruelty-free and vegan treatments, including microneedling. The chain is also an ambassador for vegan medical skincare brand ElaSpa.

If you prefer to stick to just consuming whole foods, here are seven of the best plant-based foods to eat to keep your skin looking glowing and healthy.

Eating spinach regularly can benefit your skin. Its rich in vitamins and minerals, including vitamin A, vitamin C, and vitamin E, which are particularly good for your skin. Its also a great source of iron, as well as folate and magnesium.

Blueberries are packed with skin-beautifying antioxidants. Stephanie Clarkeco-owner of C&J Nutritiontold Self, that deep blue/purple color that makes blueberries so gorgeous translates to helping your skin look young too. This color is a result of compounds called anthocyanins, powerful antioxidants that shield the skin against harmful free radicals that can damage the collagen that keeps your skin firm.

Eating avocados is good for your skin, as theyre rich in vitamins C and E. You can also apply them directly to your face and feel their benefits that way. Registered dietician Maureen Eyerman told Elle, the hydrating properties may reduce fine lines and wrinkles, help keep skin smooth, and boost skins immunity against stress and other environmental factors.

Sweet potatoes are rich in vitamin E and vitamin C, which helps to boost collagen. Theyre also rich in anthocyanins, which can help to prevent blemishes and dark spots. Sweet potatoes are also a source of fiber, iron, calcium, and selenium.

Walnuts contain omega-3 fats, which, according to Clarke,strengthen the membranes of your skin cells.They also contain nourishing fats which attract soothing moisture from the air and reduce inflammation, helping to avoid breakouts.

Carrots are associated with good eye health, but theyre good for the skin, too. According to Healthline, vitamin C-rich carrots can help skin recover from conditions like psoriasis and rashes. They can also help you heal faster from cuts and other wounds.

Kiwis have more vitamin C than oranges, and theyre packed with vitamin E. You can also place them over the top of your eyes, which can help to reduce the appearance of dark circles.

Summary

Article Name

The Vegan Diet and Healthy Skin: Everything You Need to Know

Description

Is the vegan diet the best defense against skin conditions? Here's everything you need to know about eating plant-based and healthy skin.

Author

Charlotte Pointing

Publisher Name

LIVEKINDLY

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The Vegan Diet and Healthy Skin: Everything You Need to Know - LIVEKINDLY

"Signs of cancer can appear long before diagnosis," reports The Guardian.

Most cells in the body divide and reproduce constantly, picking up replication errors in their DNA over time as we age. Many of these errors may be harmless, but some can cause or increase the risk of cancer.

Cancers begin when harmful errors, or mutations, cause our cells to divide in an uncontrolled way. It's usually impossible to tell if this is happening, until the cancer starts to cause physical signs or symptoms.

In this new study, an international team of researchers sequenced the genomes (the entire DNA and genetic material) of 2,658 tumour samples.

They used the information to work out the order in which mutations and copying of mutations happened, because usually more than one mutation is needed before cells become cancerous. The researchers then modelled how different types of cancer develop over time.

They found that harmful mutations for some types of cancer, such as ovarian cancer, characteristically happen very early, in some cases decades before people have any physical signs of the disease. The findings raise hopes that some cancers could be detected and treated much earlier.

However, at present it's not clear whether this research could lead to a cancer screening system based on checking for "genetic early warning signs", both in terms of effectiveness and feasibility.

At present, the best way to detect cancer early is to be alert to the possible signs and symptoms, attend cancer screening when invited, and know about your family history of the disease.

Find out more about:

The research was carried out by the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, an enormous collaboration between hundreds of scientists from 4 continents. 46 scientists worked on this particular paper, from 38 universities or research institutes.

The PCAWG group published 6 papers this week, but we're focusing on just 1, which looked at the way cancers evolve over time. The study was published in the peer-reviewed journal Nature on an open-access basis, so it is free to read online.

The Guardian, BBC News and Mail Online focused on the discovery that DNA changes to cells may happen many years before cancer can currently be diagnosed, and the reporting was generally accurate.

This was a modelling study, using data from the whole genome sequencing of 2,658 cancers to reconstruct the likely evolution of DNA in these cancers over time. The study helps scientists to better understand how cancers begin and evolve.

However, at this stage, the results cannot be used to test for cancers in people.

A team of scientists worldwide worked with 2,778 samples of cancers, taken from 2,658 people with cancer. Some people gave just 1 sample, while others gave a sample of newly diagnosed primary tumours, and later, a sample of a metastatic cancer (when cancer has spread to another part of the body). 38 cancer types were represented in the samples.

The scientists carried out whole genome sequencing of the samples. This showed where DNA mutations arose, and whether they had been copied and duplicated as more DNA changes accumulated.

Researchers could look for so-called "driver" mutations, which are known to be linked to cancer, and see whether they happened early or late in the cancer's evolution.

They used this information to model a typical "life history" for each of the 38 types of cancer. This showed whether important mutations happened early or late in the cancer's development. They then estimated how that mapped against a person's life. For example, whether cancer-causing mutations happened a short time before cancer was diagnosed, or whether they had been present for years or decades before cancer was detected.

The researchers found that the time between cancer-driving mutations and diagnosis varies a lot between cancers. Some (such as liver and cervical cancer) happen 1 to 5 years before the cancer was diagnosed. By contrast, ovarian cancers showed significant mutations 10 to 40 years before diagnosis. This suggests the original mutations that lead to some adult cancers could happen during childhood or adolescence.

Other results included:

The researchers said: "Our study sheds light on the typical timescale of tumour development, with initial driver events seemingly occurring up to decades before diagnosis." They say the results "highlight opportunities for early cancer detection."

This study represents an enormous achievement by many scientists working together to find out more about how cancers develop over time. This type of work is likely to be important in developing future tests for cancers, and possibly new treatments that can target cancers at a very early stage.

However, the study does not change how cancer is diagnosed or treated at present. It can take years before early-stage research like this leads to changes in clinical practice.

As one of the scientists involved in the study told journalists, the idea of being able to target mutations by doing blood tests during childhood, then eliminate dangerous mutations, is "science fiction".

This research is very complex and, as with all modelling, it relies on some assumptions about the time it takes for mutations to arise, be duplicated and copied. The accuracy of the findings will depend on the accuracy of these assumptions.

All samples in the study came from people who had developed cancer. It would be interesting to compare findings with non-cancerous tissue samples from these people, or samples from people who did not develop cancer.

It's good news that DNA sequencing technology now allows scientists to work on such a large scale, and that theyre able to work together to find out more detail about the way that cancers evolve. This type of work could make a big difference to the way doctors approach cancer in future.

Analysis by BazianEdited by NHS Website

Continued here:
Could findings of large new study change how cancer is diagnosed and treated - NHS Website

Research into alternative stem cell sources has identified urine derived renal progenitor cells (UdRPCs) as a possible option for use in regenerative kidney therapies in the future.

Scientists have demonstrated their protocol for the reproducible isolation of kidney stem cells from human urine. These urine derived renal progenitor cells (UdRPCs) could be used to provide easier access to stem cells for regenerative kidney therapies and modelling diseases for R&D.

A shortage of donor organs and the risks and pain associated with bone marrow stem cell extractions and third trimester amniotic fluid collection have encouraged researchers to find alternative sources of stem cells. According to scientists, several laboratories have indicated urine could be an alternative source, at least for kidney stem cells, so the researchers from Heinrich Heine University-Duesseldorf (HHU) Germany,set out to complete a comprehensive molecular and cellular analysis of these cells.

UdRPCs should be considered as the choice of renal stem cells for facilitating the study of nephrogenesis, nephrotoxicity, disease modelling and drug development

Their study, published in Scientific Reports, revealed that UdRPCs isolated from ten individuals express both markers typically seen in bone marrow-derived mesenchymal stem cells (MSCs) and renal stem cells. The renal stem cell markers, according to the paper, allow UdRPCs to be differentiated into cell types present in the kidney, eg, podocytes and the proximal and distal tubules. The study also showed that these progenitor cells have similar properties to amniotic fluid-derived stem cells (AFCs).

Wasco Wruck, bioinformatician and co-author of the study, said: It is amazing that these valuable cells can be isolated from urine and comparing all the genes expressed in UdRPCs with that derived from kidney biopies we could confirm their renal and renal progenitor cell properties and origin.

According to Martina Bohndorf, a study co-author, UdRPCs can also be easily and efficiently reprogrammed into induced pluripotent stem cells using a non-viral integration-free and safe method.

Dr James Adjaye, study senior author and professor at the Institute for Stem Cell Research and Regenerative Medicine (ISRM) in the medical faculty of HHU, revealed that one of the most promising options in the near future is the use of transplantable renal stem cells (UdRPCs) for treatment of kidney diseases as a complementary option to kidney organs. He concluded that human UdRPCs should be considered as the choice of renal stem cells for facilitating the study of nephrogenesis, nephrotoxicity, disease modelling and drug development.

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Kidney stem cells isolated from urine could be regenerative therapies - Drug Target Review

Anemia also known as iron-poor blood is a condition that develops when either the blood doesn't have enough red blood cells or the concentration of hemoglobin in red blood cells is very low. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen from the lungs to the rest of the body. When there are fewer red blood cells than normal or low levels of hemoglobin, the body doesn't get enough oxygen-rich blood for healthy functioning, which is what causes the symptoms of anemia.

Anemia is the most common blood disorder in the United States, affecting nearly 3 million Americans, according to the Centers for Disease Control and Prevention (CDC).

The term anemia is a broad one that represents several hundred different conditions some of them mild and treatable, others that are quite serious, said Dr. Nancy Berliner, chief of hematology at Brigham and Women's Hospital in Boston. There are three reasons that people are anemic, Berliner said: Either their body can't make enough red blood cells, something is destroying the red blood cells faster than their body can make news ones or blood loss (from menstrual periods, colon polyps or a stomach ulcer, for example) is greater than blood cell production.

There are more than 400 different types of anemia, according to the Pacific Heart, Lung & Blood Institute. Here are a few of the more common and better understood types:

Iron-deficiency anemia: The most common form of anemia is caused by low-iron levels in the body. Humans need iron to make hemoglobin, and most of that iron comes from dietary sources. Iron-deficiency anemia can result from a poor diet or from blood loss through menstruation, surgery or internal bleeding.

Pregnancy also increases the body's need for iron because more blood is needed to supply oxygen to the developing fetus, which may quickly drain the body's available iron stores, leading to a deficit. Problems absorbing iron from food because of Crohn's disease or celiac disease can also result in anemia.

Vitamin deficiency anemia: Besides iron, the body also needs two different B-vitamins folate and B12 to make enough red blood cells. Not consuming enough B12 or folate in the diet or an inability to absorb enough of these vitamins can lead to deficient red blood cell production.

Sickle cell anemia or sickle cell disease (SDC): This inherited disease causes red blood cells to become crescent-shaped rather than round. Abnormally shaped red cells can break apart easily and clog small blood vessels, resulting in a shortage of red blood cells and episodes of pain, according to the Mayo Clinic. People become chronically anemic because the sickle-shaped red cells are not pliable and can't get through blood vessels to deliver oxygen, Berliner said.

SDC occurs most often in people from parts of the world where malaria is or was common, according to the CDC; the sickle cell trait may provide protection against severe forms of malaria. In the U.S., SDC affects an estimated 100,000 Americans.

Thalassemia: Thalassemia is an inherited blood disorder that results in lower-than-normal levels of hemoglobin. This type of anemia is caused by genetic mutations in one or more of the genes that control the production of hemoglobin, according to the National Heart, Lung & Blood Institute (NHLBI).

Aplastic anemia: Aplastic anemia is a rare, life-threatening condition that develops when bone marrow stops making enough new blood cells, including red cells, white cells and platelets.

Aplastic anemia may be caused by radiation and chemotherapy treatments, which can damage stem cells in bone marrow that produce blood cells. Some medications, exposure to toxic chemicals like pesticides, viral infections and autoimmune disorders can also affect bone marrow and slow blood cell production.

Hemolytic anemias: This disorder causes red blood cells to be destroyed faster than bone marrow can replace them. Hemolytic anemias may be caused by infections, leaky heart valves, autoimmune disorders or inherited abnormalities in red blood cells, according to the American Society of Hematology.

Anemia of inflammation: Also called anemia of chronic disease, anemia of inflammation commonly occurs in people with chronic conditions that cause inflammation. This includes people with infections, rheumatoid arthritis, inflammatory bowel disease, chronic kidney disease, HIV/AIDS and certain cancers, according to the National Institute of Diabetes and Digestive and Kidney Diseases.

When a person has a disease or infection that causes inflammation, the immune system responds in a way that changes how the body works, resulting in anemia. For example, inflammation suppresses the availability of iron, so the body may not use and store the mineral normally for healthy red blood cell production, Berliner said. Inflammation may also stop the kidneys from producing a hormone that promotes red blood cell production.

The risk for anemia is higher in people with a poor diet, intestinal disorders, chronic diseases and infections. Women who are menstruating or pregnant are also prone to the disorder.

The risk of anemia increases with age, and about 10% to 12% of people over 65 are anemic, Berliner said. But the condition is not a normal part of aging, so the cause should be investigated when it's diagnosed, she said. Older adults may develop anemia from chronic diseases, such as cancer, or iron-deficiency anemia from abnormal bleeding.

According to NHLBI, the following types of people have an increased risk of developing anemia:

Mild forms of anemia may not cause any symptoms. When signs and symptoms of anemia do occur, they may include the following, according to the NHLBI:

The first test used to diagnose anemia is a complete blood count, which measures different parts and features of the blood: It shows the number and average size of red blood cells, as well as the amount of hemoglobin. A lower-than-normal red blood cell count or low levels of hemoglobin indicate anemia is present.

If more testing is needed to determine the type of anemia, a blood sample can be examined under a microscope to check for abnormalities in the size and shape of the red cells, white cells and platelets.

Related: This man's taste buds disappeared because of a blood condition

The treatment of anemia depends on the specific type of anemia, Berliner said, and anemias caused by nutritional deficiencies respond well to changes in diet. People with iron-deficiency anemia may need to take supplemental iron for several months or longer to replenish blood levels of the mineral. Some people, especially pregnant women, may find it hard to take iron because it causes side effects, such as an upset stomach or constipation, Berliner said.

For vitamin-deficiency anemias, treatment with B12 or folate from supplements (or a B12 shot) and foods, can improve levels of these nutrients in the blood, Berliner said.

Serious problems, such as aplastic anemia, which involves bone marrow failure, may be treated with medications and blood transfusions. Severe forms of thalassemia might need frequent blood transfusions.

Treatment for sickle cell anemia may include pain medications, blood transfusions or a bone marrow transplant.

Additional resources:

This article is for informational purposes only, and is not meant to offer medical advice.

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Anemia: Causes, symptoms and treatment - Livescience.com

Mesoblast Tenders Completed Biologics License Application

Mesoblast Limited (MESO) announced that it has filed a completed Biologics License Application (BLA) with the United States Food and Drug Administration for its lead allogeneic cell therapy Ryoncil. The therapy is aimed at treating children with steroid-refractory acute graft versus host disease (SR-aGVHD).

Mesoblast submitted the final module of its rolling BLA submission on January 31, 2020. This module covers various aspects related to manufacturing and quality control. The drug candidate currently has Fast Track designation assigned to it and on the basis of this tag, the company is now seeking the FDA to carry out Priority Review of its BLA.

Subject to the approval of the therapy, the company is looking to launch it in the US markets in 2020. CEO Dr. Silviu Itescu said, "This is a major corporate milestone for Mesoblast." The company is expected to use the insights gained from its Temcell product in Japan for the marketing of Ryoncil.

Acute Graft versus Host disease affects nearly 50 percent of patients given an allogeneic Bone Marrow transplant. It is estimated that nearly 30,000 patients undergo bone marrow transplants worldwide. The mortality rate for patients suffering from actual GVHD is close to 90 percent. Currently, there is no FDA approved treatment for this in the United States for children under 12.

Ryoncil has been tested on 309 children suffering from SR-aGVHD during three different studies. It was employed as salvage therapy on 241 children with SR-aGVHD (80% Grade C/D) who failed institutional standard of care. It has also been tested as first line therapy for an open label Phase 3 trial in 55 children with SR-aGVHD. RYONCIL, is an investigational therapy comprising culture-expanded mesenchymal stem cells. These stem cells are taken from the bone marrow of an unrelated donor. The drug is administered to patients as intravenous infusions.

Mesoblast specializes in developing allogeneic cellular medicines. The company uses its proprietary cell therapy technology platform for research and development purpose. It has strong drug pipeline with products such as Remestemcel-L, Revascor, MPC-06-ID and MPC-300-IV. Revascor and MPC-06-ID have completed patient enrollment for its Phase 3 trials. The former drug candidate is aimed at treating advanced chronic heart failure while the latter is targeted at treating chronic low back pain caused by degenerative disc disease. The companys Temcell and Alofisel drugs are already approved in Japan and Europe, respectively.

Mesoblast has posted strong operative results as well. The company had reported 46 percent growth in its revenue during the first quarter of 2020. Mesoblast ended the quarter with $34.5 million in cash while its pro forma cash in hand stood at $100 million. The company also reported its strategic partnership with Grunenthal, which entitles Mesoblast to receive up to $150 million in upfront and milestone payments. The collaboration will also result in commercialization milestone payments. Such milestone payments have the potential to cross $1 billion mark.

Mesoblast stock has performed strongly in the market. The stock has charted over 200 percent in the past 12 months. Currently, it is trading close to its 52-week high of $10.88 and has potential to maintain its positive trajectory as the company forges ahead with its research and development activities and marketing efforts.

Waters Corporation (WAT) reported its fourth-quarter earnings and provided guidance for 2020. The company registered $716 million in revenue for the fourth quarter, in line with the revenue of $715 million it had reported for the corresponding quarter of the previous year. Its GAAP diluted earnings per share stood at $3.12 per share, up from $2.46 on year-on-year basis.

For the full fiscal year 2019, the companys revenue stood at $2.4 billion, down 1 percent from $2.42 billion in revenue it had earned in fiscal year 2018. The EPS for the fiscal year stood at $8.69, up from $7.65 for the previous year. The non GAAP EPS also increased from $8.29 to $8.99 for fiscal year 2019.

The company reported that its sales in both the pharmaceuticals and industrial market declined by 1 percent. However, its sales into the government and academic market grew 8 percent. Chris OConnell, Chairman and Chief Executive Officer of Waters Corporation, said, We were encouraged by the increasing impact in the fourth quarter of our new products launched during 2019.

While its full-year and fourth-quarter numbers were strong, the company provided rather lackluster guidance for fiscal year 2020. Waters Corporation expects its full-year revenue to increase by 1 percent to 3 percent. Its non GAAP EPS will likely remain between $9.15 and $9.40, lower than consensus estimate of $1.75. For its first quarter, Waters Corporations non GAAP EPS for the first quarter is expected to be in the range of $1.55 and $1.65. The consensus estimate for non GAAP EPS guidance was at $1.75.

EyePoint Pharmaceuticals (EYPT) reported its new exclusive licensing deal with Equinox Science. The deal involves the development of vorolanib for treating wet age-related macular degeneration, retinal vein occlusion and diabetic retinopathy. Vorolanib is a tyrosine kinase inhibitor.

EyePoint elaborated that its drug candidate EYP 1901, which incorporates vorolanib, uses a miniaturized, sustained release and injectable intravitreal drug delivery system offering six months duration. The company has used its bioerodible Durasert technology for this purpose. EyePoint is optimistic about the combination of vorolanib with Durasert technology for delivering superior results.

Under the terms of the agreement, EyePoint will take care of development and global commercialization of the treatment. However, the global commercialization will exclude China, Hong Kong, Taiwan and Macau regions. For this purpose, EyePoint will pay $1 million to Equinox Science as upfront payment. It will also pay development and regulatory milestones and post commercialization royalties.

EyePoint recently concluded a positive Type B pre investigational New Drug meeting with the FDA. The meeting clarified the pathway for a Phase 1 clinical trial. The company expects to present the data from Phase 1 trial during the second half of 2021. Nancy Lurker, President and Chief Executive Officer of EyePoint Pharmaceuticals, said, We are encouraged by the potential of vorolanib, as it demonstrated a promising Phase 1 and Phase 2 efficacy signal in prior human wAMD studies as an oral therapy and in preclinical animal studies as intravitreal EYP-1901.

EyePoint is a biopharma company specializing in developing novel ophthalmic products. The company currently has two products available in the market which are Dexycu and Yutiqu. The former is the first approved intraocular treatment for postoperative inflammation while the latter is a three-year treatment of chronic non-infectious uveitis affecting the posterior segment of the eye.

Thanks for reading. At the Total Pharma Tracker, we do more than follow biotech news. Using our IOMachine, our team of analysts work to be ahead of the curve.

That means that when the catalyst comes that will make or break a stock, weve positioned ourselves for success. And we share that positioning and all the analysis behind it with our members.

Disclosure: I am/we are long MESO. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

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Mesoblast Submits BLA, And Other News: The Good, Bad And Ugly Of Biopharma - Seeking Alpha

Stem Cell Therapy Market: Snapshot

Of late, there has been an increasing awareness regarding the therapeutic potential of stem cells for management of diseases which is boosting the growth of the stem cell therapy market. The development of advanced genome based cell analysis techniques, identification of new stem cell lines, increasing investments in research and development as well as infrastructure development for the processing and banking of stem cell are encouraging the growth of the global stem cell therapy market.

To know Untapped Opportunities in the MarketCLICK HERE NOW

One of the key factors boosting the growth of this market is the limitations of traditional organ transplantation such as the risk of infection, rejection, and immunosuppression risk. Another drawback of conventional organ transplantation is that doctors have to depend on organ donors completely. All these issues can be eliminated, by the application of stem cell therapy. Another factor which is helping the growth in this market is the growing pipeline and development of drugs for emerging applications. Increased research studies aiming to widen the scope of stem cell will also fuel the growth of the market. Scientists are constantly engaged in trying to find out novel methods for creating human stem cells in response to the growing demand for stem cell production to be used for disease management.

It is estimated that the dermatology application will contribute significantly the growth of the global stem cell therapy market. This is because stem cell therapy can help decrease the after effects of general treatments for burns such as infections, scars, and adhesion. The increasing number of patients suffering from diabetes and growing cases of trauma surgery will fuel the adoption of stem cell therapy in the dermatology segment.

Global Stem Cell Therapy Market: Overview

Also called regenerative medicine, stem cell therapy encourages the reparative response of damaged, diseased, or dysfunctional tissue via the use of stem cells and their derivatives. Replacing the practice of organ transplantations, stem cell therapies have eliminated the dependence on availability of donors. Bone marrow transplant is perhaps the most commonly employed stem cell therapy.

Osteoarthritis, cerebral palsy, heart failure, multiple sclerosis and even hearing loss could be treated using stem cell therapies. Doctors have successfully performed stem cell transplants that significantly aid patients fight cancers such as leukemia and other blood-related diseases.

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Global Stem Cell Therapy Market: Key Trends

The key factors influencing the growth of the global stem cell therapy market are increasing funds in the development of new stem lines, the advent of advanced genomic procedures used in stem cell analysis, and greater emphasis on human embryonic stem cells. As the traditional organ transplantations are associated with limitations such as infection, rejection, and immunosuppression along with high reliance on organ donors, the demand for stem cell therapy is likely to soar. The growing deployment of stem cells in the treatment of wounds and damaged skin, scarring, and grafts is another prominent catalyst of the market.

On the contrary, inadequate infrastructural facilities coupled with ethical issues related to embryonic stem cells might impede the growth of the market. However, the ongoing research for the manipulation of stem cells from cord blood cells, bone marrow, and skin for the treatment of ailments including cardiovascular and diabetes will open up new doors for the advancement of the market.

Global Stem Cell Therapy Market: Market Potential

A number of new studies, research projects, and development of novel therapies have come forth in the global market for stem cell therapy. Several of these treatments are in the pipeline, while many others have received approvals by regulatory bodies.

In March 2017, Belgian biotech company TiGenix announced that its cardiac stem cell therapy, AlloCSC-01 has successfully reached its phase I/II with positive results. Subsequently, it has been approved by the U.S. FDA. If this therapy is well- received by the market, nearly 1.9 million AMI patients could be treated through this stem cell therapy.

Another significant development is the granting of a patent to Israel-based Kadimastem Ltd. for its novel stem-cell based technology to be used in the treatment of multiple sclerosis (MS) and other similar conditions of the nervous system. The companys technology used for producing supporting cells in the central nervous system, taken from human stem cells such as myelin-producing cells is also covered in the patent.

Global Stem Cell Therapy Market: Regional Outlook

The global market for stem cell therapy can be segmented into Asia Pacific, North America, Latin America, Europe, and the Middle East and Africa. North America emerged as the leading regional market, triggered by the rising incidence of chronic health conditions and government support. Europe also displays significant growth potential, as the benefits of this therapy are increasingly acknowledged.

Asia Pacific is slated for maximum growth, thanks to the massive patient pool, bulk of investments in stem cell therapy projects, and the increasing recognition of growth opportunities in countries such as China, Japan, and India by the leading market players.

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Global Stem Cell Therapy Market: Competitive Analysis

Several firms are adopting strategies such as mergers and acquisitions, collaborations, and partnerships, apart from product development with a view to attain a strong foothold in the global market for stem cell therapy.

Some of the major companies operating in the global market for stem cell therapy are RTI Surgical, Inc., MEDIPOST Co., Ltd., Osiris Therapeutics, Inc., NuVasive, Inc., Pharmicell Co., Ltd., Anterogen Co., Ltd., JCR Pharmaceuticals Co., Ltd., and Holostem Terapie Avanzate S.r.l.

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Latest Research Report on Stem Cell Treatments Market size | Industry Segment by Applications (Nerve Diseases, Immunological Diseases, Musculoskeletal Disorders, Cardiovascular Diseases, Gastrointestinal Diseases and Other), by Type (Adipose Tissue-Derived Mesenchymal Stem Cells, Bone Marrow-Derived Mesenchymal Stem Cells, Cord Blood/Embryonic Stem Cells and Other Cell Sources), Regional Outlook, Market Demand, Latest Trends, Stem Cell Treatments Industry Growth, Share & Revenue by Manufacturers, Company Profiles, Forecasts 2025.Analyzes current market size and upcoming 5 years growth of this industry.

New research report to its expanding repository. The research report, titled Stem Cell Treatments Market, mainly includes a detailed segmentation of this sector, which is expected to generate massive returns by the end of the forecast period, thus showing an appreciable rate of growth over the coming years on an annual basis. The research study also looks specifically at the need for Stem Cell Treatments Market.

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The study includes the profiles of key players in the Stem Cell Treatments market with a significant global and/or regional presence. The Stem Cell Treatments market competition by Top Manufacturers Covers:

By Product:

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Recent Industry Trend:

The report contains the profiles of various prominent players in the Global Stem Cell Treatments Market. Different strategies implemented by these vendors have been analyzed and studied to gain a competitive edge, create unique product portfolios and increase their market share. The study also sheds light on major global industry vendors. Such essential vendors consist of both new and well-known players. Besides, the business report contains important data relating to the launch of new products on the market, specific licenses, domestic scenarios and the strategies of the organization implemented on the market.

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Stem Cell Treatments Market to Exhibit Impressive Growth of CAGR during the per - News by aeresearch

By Michael Le Page

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CRISPR gene-edited immune cells have been injected into threepeople with advanced cancer without any serious side effects, the first trial of its kind in the US. It is also the first CRISPR cancer trial in the world to publish its findings, and the encouraging results will pave the way for many more trials.

Its an important milestone, says Waseem Qasim at theUCLGreat Ormond Street Institute of Child Health in the UK, who is carrying out a similar trial there.

The US trial was intended only to assess safety. The threeparticipants had tumours that hadnt responded to other treatments, and were given only one dose of gene-edited cells.

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Is it safe and feasible? says team member Edward Stadtmauer at the University of Pennsylvania. I think thats what we demonstrated.

Many cancers involving blood cells are now treated by removing immune cells from individuals, adding a gene that makes them target cancer cells and putting them back in the body.

But this treatment doesnt work for everyone, says Stadtmauer. And in some, it works at first but they later relapse.

The hope is that using gene editing to delete genes in addition to adding the targeting gene will make this approach even more effective. For instance, immune cells have a safety switch, called PD-1, that other cells can flip to say dont hurt me. Many cancers exploit this to avoid immune attacks.

In this trial, the team removed immune cells from three peoplewho hadtumours with the same protein on their surface. A virus was used to add a gene to make the immune cells target this protein.

Next, three genes, including PD-1, were deleted using CRISPR. After six weeks, the cells were put back in the individuals, where they survived for at least 9 months.

There were two big safety concerns. Firstly, CRISPR can cause unintended changes to genomes that could turn cells cancerous. Deleting three genes means cutting around each one in three spots in the genome, for instance, and the wrong ends can be joined up. This did happen in some cells, but there was no sign of any turning cancerous.

The other worry was that lingering traces of the CRISPR protein used for gene editing might trigger an immune reaction, since it is a bacterial protein. There was no sign of this.

The trial wont continue because its 2016 gene-editing technology is already outdated, says Carl June, also at the University of Pennsylvania. In particular, a new form of CRISPR called base editing can be used to inactivate genes without cutting DNA, which should reduce the cancer risk even further. We are very attracted to that, says June.

There are also many other ways to edit immune cells to make them more effective, says Stadtmauer. The possibilities are limitless based on our imagination and scientific focus.

In particular, Stadtmauer wants to create off-the-shelf cells that could be given to any patient, rather than modifying each patients own cells. This would speed up treatments and greatly reduce costs.

Qasims team has already saved lives in an ongoing trial at Great Ormond Street using off-the-shelf cells created by an older form of gene editing called TALEN. But these cells have to be given as part of a drastic treatment, which is followed by a bone marrow transplant that kills off the edited cells. Stadtmauer wants to create cells that can survive indefinitely in peoples bodies.

The risk of edited cells turning cancerous or starting to attack healthy cells would be higher if they survive longer. But it is also possible to add a self-destruct mechanism triggered by a specific drug to kill them off if necessary.

There have been a number of trials of CRISPR-edited immune cells for treating cancer in China, but no results have yet been published.

Journal reference: Science, DOI: 10.1126/science.aba7365

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The lottery that began this week was not about money, or about choosing a school, or about obtaining a visa. It was about a childs life.

In this case, the children selected would receive a drug that otherwise was not available. Jamie Clarkson, an electrician in Queensland, Australia, entered his 18-month-old daughter, Wynter.

We applied for it because we desperately want this drug for our daughter, but youre putting your daughters well-being and longevity in the hands of a lottery, Clarkson said. I guess its the fairest way to decide who gets the drug and who doesnt, but yeah, its not a great feeling.

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The treatment, a gene therapy called Zolgensma, is designed for children like Wynter who have a neuromuscular disease called spinal muscular atrophy, or SMA. Without it or other treatments, those with the most serious type are likely to die as babies. It was first approved by U.S. regulators only last year, and is not yet available in other countries.

The lottery was devised by the drugs manufacturer, Novartis, to give families in those places a chance to get it through a novel form of compassionate use a way to get medications that have not been approved while they wait. Fifty doses are slotted to be given away for free in the first half of the year, with up to 100 total.

The first drawing occurred Monday.

Ethicists and advocates have debated the merits and the design of the unusual arrangement. Parents said that it was uncomfortable to cast their childs fate into what felt like a sweepstakes a kind of bizarre Willy Wonka contest in which, as Maura Blair, a Canadian mother of a child with SMA put it, were talking about lives. But if it was a chance to get the drug, it was worth trying.

Zolgensma costs $2.1 million in the United States the worlds most expensive drug. And even if it is to cost less in other countries, even if it is to be covered by insurance, infants at this point are not eligible for it after turning 2. Some families have even tried to fundraise in hopes of buying the drug themselves and getting it injected by doctors in the United States.

Shes 7 months, Laura Silva, who lives north of Toronto, said about her daughter, Rebecca. Do we rely on their word and wait it out? Or do we take action ourselves? Because the sooner she can get it, the better for her.

Some parents said they had taken issue with news coverage of the lottery, which has framed the eventual recipients of the drugs as lucky winners. If that were the case, what did that say about everyone else?

The kids appeared healthy at birth. But soon, their parents recalled, it became clear that something was wrong. They couldnt raise or control their arms and legs. They would choke on their milk.

Jamie Clarkson, in Australia, said he and his wife, Kellee, had a friend with a daughter around Wynters age. When laid face down (tummy time, in parental parlance), the girl had no problem lifting her head.

The difference was chalk and cheese, he said. Our girl sort of laid there and didnt do anything.

Sometimes the parents were told their kids just needed more time, but eventually, a clinical evaluation and genetic test would confirm the SMA diagnosis. The most serious form, called type 1, is estimated to affect 1 in 15,000 babies.

Children with the disease have a mutation in a gene called SMN1 (or a missing gene) that meant cells dont produce sufficient SMN protein. The dearth of the protein debilitates motor neurons, which are responsible for relaying messages to muscles, and creates a cascade of issues that culminates in muscle weakness.

Without treatment, babies with type 1 SMA might never be able to lift their heads or arms or legs, and struggle to regulate their swallowing and breathing. Most die by 2, typically because of respiratory issues.

Zolgensma works by ferrying a healthy copy of an SMN gene into motor neurons restoring production of the protein and the health of the neurons. It is a one-time treatment with lasting benefits like reigniting a pilot light.

When Zolgensma won approval from the U.S. Food and Drug Administration in May, it was hailed a monumental victory for families and an achievement in genetic medicine one of the first gene therapies to make it to the market. But it also created a divide between haves and have-nots American parents, assuming insurance companies would cover the treatment, and parents anywhere else in the world.

It is not uncommon for a drug to be available in the United States before other countries; drug makers routinely apply for and receive regulatory clearance from agencies around the world at different times. But the FDAs approval drove global appeals for a drug that offered babies a chance.

Beyond the issue of regulatory approval, supplies of Zolgensma are tight, Novartis has said. Gene therapies are complex to manufacture, and the company only has one facility producing the drug right now, with plans for two more to come online this year. It also needs to have doses available for U.S. patients and for patients in other countries where the drug could become available in the coming months. (European regulators are expected to decide on Zolgensma this quarter, and Japanese officials before the middle of the year, the company has said. Decisions in Canada and Australia may not come until 2021.)

Novartis saw a lottery as the answer.

Random lotteries are an accepted way to mete out resources when there is a limited amount, some ethicists have argued. They establish an equal playing field and remove the possibility that those with money or connections can maneuver to jump the line.

But experts have also questioned whether Novartis has done enough to try to overcome the scarcity issues. Some have also said that favoring those with the greatest need meaning the sickest children would be a more ethical approach; patients who are healthier could potentially wait until the drug is approved in their home countries or until more supply is available.

If it is really not possible to help all who are in need of help, then a lottery with priority to patients who are worst off is not a bad approach and definitely fairer than other things a company could do, said Holly Fernandez Lynch, a bioethicist at University of Pennsylvanias Perelman School of Medicine. The key is to first do everything possible to minimize the need for a lottery at all and its not obvious to me that Novartis has done that here.

The fact that the lottery created a situation in which there are, for lack of better descriptors, winners and losers also left some people uneasy.

You cant do anything to improve your chances, said Genevieve Kanter, also a bioethicist at Penn. But it does become a zero-sum game, which is what bothers some people about the mechanism, even if at the end of the day, more kids get treated than in the alternate scenario where theres no lottery.

Its the price we have to pay to have some kids treated.

In an interview with STAT, the president of AveXis, the Novartis unit that developed Zolgensma, said the company considered prioritizing the patients who were sickest or those for whom another SMA treatment did not help. But the company, which is using an outside party to handle the selection and brought in ethicists to consult on the system, did not want to put a finger on the scale in any way, he said. Instead, selections would be random.

Its the only fair way to allocate, the official, Dave Lennon, said, even as he acknowledged, its not an ideal situation.

The alternative is not do anything, which we didnt feel like was a good option, he added.

He said if the supply was sufficient, Novartis hoped to expand the program.

Novartis would not say how many people were being selected each time. Drawings are set to take place every two weeks.

And that means families in desperate need have a chance to obtain the medicine just as often.

For them, they try every possible way to get this Zolgensma, said Csilla Galik, a friend of the family of Noel lys, who has type 1 SMA and whose family lives in Romania near the Hungarian border. They need to try every possibility because this medicines price is incredible.

Beyond Zolgensma, there is another treatment for SMA: Spinraza, manufactured by the drug maker Biogen and more widely available globally. Injected into the spinal fluid every few weeks and then every four months, it promotes the production of the SMN protein by boosting the activity of another gene similar to SMN1.

Many of the children waiting for Zolgensma are already receiving Spinraza, and their parents say it appears to be helping, to an extent.

Wynter Clarksons motor function has improved, though not as much as her parents had hoped it would. She can move her head and raise her arms, and can sit up with a back brace. She can rock from side to side, but not quite roll over. Each treatment requires the family to travel about two and a half hours from their home in Toowoomba to Brisbane.

Spinraza and Zolgensma have not been compared in a head-to-head study, and how long the benefits of Zolgensma last is not yet known. But parents said they see a one-time infusion of Zolgensma which replaces the faulty gene at the root of the disease, instead of just building a workaround as the best option for their children.

Even when children are on Spinraza, their disease can progress, if at a slower rate, parents said.

Blair said her daughter, Lennon, has more control over her head and limbs since starting Spinraza. But after three doses, the girl still needed a feeding tube inserted; she lost her ability to swallow. Thats on top of other care required by Blair and other parents of infants with the disease. Oxygen levels needed to be checked, sleeping sometimes requires a mask and machines to aid breathing, physical therapy exercises are done to try to coax some muscle activity.

You basically repeat that all day, all day until bed time, said Blair, of St. Catharines, Ontario. And everything takes so long.

There is another wrinkle to having a child with the disease: Its inherited, and some parents though not all said they felt responsible for having passed on a mutation that made their child so sick.

To have the disease, a child needs to inherit two mutated copies of the gene, one from each parent who can go through life not knowing they are carrying the mutation until they have a child with the disease.

The parents who have struggled with a sense of guilt know they shouldnt blame themselves, but they still catch themselves wondering if there was something they could have done differently.

Its something we technically gave to her, not even knowing that we could, said Laura Silva, the mother who lives near Toronto. And thats the hardest part.

When it came time for the lottery drawing this week, her daughter Rebeccas name wasnt in the pool she hadnt yet gotten the necessary approval from a Candian health authority to try an experimental drug. Its not clear how many Canadian children found themselves in similar circumstances, or how many were successfully entered by their doctors. Some parents said they were still waiting for that approval.

Noel, the boy in Romania, was entered by his doctor. But his family had not heard anything following the initial drawing. Neither had the Clarksons in Australia:

No word from our neurologist about the free Zolgensma dose, Jamie wrote in an email Tuesday, so Im assuming Wynter wasnt picked this time around, unfortunately.

Winnie Luk-Taylor and Cory Taylor, who live outside Toronto, were once hopeful that Zolgensma could help their daughter, Skye.

She was born in June. Her motor skills werent developing as they should have, and her breath had a rattle to it, as if she were congested. At around 4 months, Skye was diagnosed with SMA and, with a cough, her parents were told to take her to the hospital. She was also started on Spinraza.

She spent a month and a half at the hospital with respiratory infections and complications. She died Dec. 21.

Skye took it all in and smiled at every one and didnt seem to realize she was experiencing some very, I guess, major medical procedures, her mom said. She was a very good-natured girl.

Luk-Taylor said she sometimes wondered what might have happened if Skye had been born one year later June 24, 2020, not 2019. Ontario, the province where they live, started testing for SMA this year as part of its newborn screening, meaning Skye might have been diagnosed earlier in her life and started on Spinraza sooner. Maybe it could have had more of an effect. And maybe Zolgensma would have become available to Canadian babies not long after that.

Instead, at Christmas, Luk-Taylor wrote her daughter a poem.

We will never let you go, it reads in part.

Your spirit will live onIt lives in everything I doI will always fight for youI will always care for youI will always dream of youI got to see who you were to becomeAnd I am blessed and proud of youI am blessed and proud of youI hope you see and hear me nowAnd know that I love you.

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Lottery like no other offers a cutting-edge medicine with lives on the line - STAT