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Genetics recombination by Genetics KU – Video


Genetics recombination by Genetics KU

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Stem-cell therapy 'can be lethal'

People considering stem-cell treatment have been advised to think again, with six groups of medical specialists issuing a strong warning yesterday that unlicensed stem-cell treatments on offer could kill a patient.

The medical societies that issued the statement include the Royal College of Physicians, the Dermatological Society, Heart Association of Thailand under the Royal Patronage of His Majesty the King, the Thai Society of Haematology, the Nephrology Society and the Neurology Society.

The statement said the Medical Council of Thailand had only approved the use of stem-cell treatment on blood diseases - namely leukaemia, malignant lymphoma, aplastic anaemia, multiple myeloma and thalassemia.

Clinical research on the use of stem-cell treatment is ongoing, but there is no scientific evidence that stem-cell therapy can effectively increasing a person's longevity, or delay organ degeneration or improve a patient's quality of life, Prof Kriang Tungsanga, president of the Royal College of Physicians, said.

The move by the medical societies was prompted by widespread ads about stem-cell-based "miracle pills" that claim to ease the symptoms of chronic symptoms such as diabetes and heart disease.

The unlicensed use of stem-cell therapy to treat heart disease, diabetes or for aesthetic purposes has become popular among celebrities and rich people who can afford the treatment, which can cost anything from Bt100,000 to Bt1 million.

Some patients even fly to private clinics in Germany to receive stem-cell injections extracted from unborn sheep that they believe will improve their health and make them look younger.

However, Kriang reiterated that stem-cell therapy is not recommended or included in the standard clinical practice guidelines of any disease other than some blood conditions.

Wrong usage 'can hurt'

Moreover, inappropriate use of stem-cell therapy may be harmful to patients as they could develop an allergy, clotting in blood vessels, contamination of the blood stream, foreign protein materials, chemicals microbial organisms and other non-pure types of cells and cancer transforming cells.

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Research and Markets: Epigenetic Therapy in Oncology Drug Pipeline Update 2013

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/pz44tp/epigenetic) has announced the addition of the "Epigenetic Therapy in Oncology Drug Pipeline Update 2013" report to their offering.

Improper gene activation or silencing by loss of epigenetic control can lead to aberrant gene expression that can drive the development of diseases such as cancer, autoimmunity, diabetes, or neurological disorders. Recent research has identified the set of enzymes and chromatin-binding proteins responsible for regulating chromatin structure. These enzymes and binding proteins form the cell's toolkit for epigenetic regulation by opening and closing chromatin or modifying chromatin structure to help control when and where genes are expressed. Inhibiting these targets with emerging drugs promises to be a powerful avenue to develop important treatments serving unmet medical needs.

There are today 60 companies plus partners developing 70 epigenetic therapy drugs in 253 developmental projects in cancer. In addition, there is 1 suspended drug and the accumulated number of ceased drugs over the last years amount to another 23 drugs.

Epigenetic Therapy In Oncology Drug Pipeline Update lists all drugs and gives you a progress analysis on each one of them. Identified drugs are linked to 36 different targets. All included targets have been cross-referenced for the presence of mutations associated with human cancer. To date 34 out of the 35 studied drug targets so far have been recorded with somatic mutations. The software application lets you narrow in on these mutations and links out to the mutational analysis for each of the drug targets for detailed information.

All drugs targets are further categorized on in the software application by 14 classifications of molecular function and with pathway referrals to BioCarta, KEGG, NCI-Nature and NetPath.

Reasons To Buy

- Show investors/board/management that you are right on top of drug development progress in your therapeutic area.

- Find competitors, collaborations partners, M&A candidates etc.

- Jump start competitive drug intelligence operations

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Research and Markets: Epigenetic Therapy in Oncology Drug Pipeline Update 2013

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Research and Markets: Global Bioinformatics Market Report 2013-2017

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/qsrrvq/bioinformatics) has announced the addition of the "Global Bioinformatics Market Report 2013-2017" report to their offering.

Based on the use of bioinformatics, the various sectors covered in this report are medicine, agriculture, environment, animal, forensic, academics, and others (homeland security and defense, law-enforcement groups, bio-weapon creation, antibiotic resistance, and evolutionary biotechnology). The medical sector accounted for a lions share of the bioinformatics market in 2012. The medical sector has been further classified as molecular medicine, gene therapy, drug discovery and development, clinical diagnostics, and reproductive biotechnology.

The bioinformatics market, by products and services, has been classified as knowledge management tools, platforms, and services. These segments are integral components of application areas such genomics, proteomics, and other life-science research, and are used for the acquisition, development, management, analysis, and integration of huge amounts of data generated during biological research. Knowledge management tools dominated the bioinformatics market in 2012, followed by platforms and services. Knowledge management tools are majorly used by researchers to handle large volumes of heterogeneous information and to integrate them with existing knowledge repositories.

Segments in the bioinformatics application market are genomics, proteomics, chemoinformatics, molecular phylogenetics, metabolomics, transcriptomics, and others (glycomics, cytomics, physiomics and interactomics). Genomics contributes the highest to the bioinformatics market; it is poised to grow at a high CAGR from 2012 to 2017. The application of bioinformatics in genomics is driven by growing pharmacogenomics applications for the discovery of new drugs and characterization of older drugs, development of new bioinformatics tools to handle large sets of data generated through genomics research, and decreasing cost of DNA sequencing. Metabolomics is the fastest-growing application area due to developments in analytical instruments that enable profiling of metabolites with high throughput and accuracy.

North America accounted for the largest market share of the bioinformatics market, followed by Europe, in 2012. This is attributed by an increasing demand for bioinformatics in genomics and proteomics research, technological advancements, growing use of bioinformatics tools in the drug discovery process, and presence of a large number of market players. However, other regions such as Asian and Latin American countries represent emerging markets, owing to a rise in research outsourcing by pharmaceutical giants, increasing number of Contract Research Organizations (CROs), rise in public and private sector investment, and growing industry -academia partnerships.

Key Topics Covered:

1 Introduction

2 Executive Summary

3 Market Overview

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Research and Markets: Global Bioinformatics Market Report 2013-2017

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The Biased Views of Hank Green and SciShow – Video


The Biased Views of Hank Green and SciShow
Earlier this year Hank Green released a video called The Science of Genetically Modified Food #39;. The video was not a fair representation of the scientific com...

By: Myles Power (powerm1985)

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The Biased Views of Hank Green and SciShow - Video

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Atossa Genetics to Exhibit Its ForeCYTE Breast Health Test at the Breast Cancer Symposium 2013

SEATTLE, WA--(Marketwired - Sep 6, 2013) - Atossa Genetics, Inc. (NASDAQ: ATOS), The Breast Health Company, will display its ForeCYTE Breast Health Test at the 7th annual Breast Cancer Symposiumfrom September 7 through September 9, 2013 in San Francisco. Atossa's exhibit will be located in Booth 33 at the San Francisco Marriott Marquis -- Golden Gate Hall.

The ForeCYTE Breast Health Test, developed and marketed by Atossa's subsidiary, The National Reference Laboratory for Breast Health, detects reversible precancerous conditions in the breast up to eight years before they become cancer. The test uses Atossa's hand-held, FDA Class II medical device that is quick, painless, and non-invasive and can be administered during an OB/GYN office visit. Unlike mammograms, which are commonly recommended for women starting at age 40 to 50, the ForeCYTE Breast Health Test is more age agnostic, uses no radiation and does not require invasive biopsy needles or surgical incisions. To view a video about the ForeCYTE Test, click here: https://vimeo.com/62365818.

"Our ForeCYTE Breast Health Test provides vital early detection of precancerous abnormalities that can lead to breast cancer over an approximately 8-year time frame," said Chris Destro, Vice President of Atossa. "By identifying women with precancerous abnormalities and empowering them with useful information, we can help women and their doctors to take important steps to reverse the condition through lifestyle changes and/or therapeutic intervention and thereby potentially prevent breast cancer and save lives. We look forward to presenting ForeCYTE's value at the Breast Cancer Symposium in San Francisco."

Atossa's ForeCYTE Breast Health Test is available through physicians nationwide.

About the San Francisco Breast Cancer Symposium

Now in its 7th year, the Breast Cancer Symposium brings together medical and radiation oncologists as well as surgeons to focus on understanding and incorporating the latest research from each subspecialty, in order to strengthen collaborative treatment approaches and to enhance patient care.

About Atossa Genetics, Inc.

Atossa, based in Seattle, WA, is focused on preventing breast cancer through the commercialization of patented, FDA-designated Class II diagnostic medical devices and, through its wholly-owned subsidiary, the NRLBH, patented, laboratory developed tests that can detect precursors to breast cancer up to eight years before mammography.

The NRLBH is a CLIA-certified high-complexity molecular diagnostic laboratory located in Seattle, Washington.

For additional information on Atossa, please visit http://www.atossagenetics.com. For additional information on the ForeCYTE test and the NRLBH, please visit http://www.nrlbh.com.

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Atossa Genetics to Exhibit Its ForeCYTE Breast Health Test at the Breast Cancer Symposium 2013

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Pasantha aged 23. Spinal cord injury.Fell 3 floors. – Video


Pasantha aged 23. Spinal cord injury.Fell 3 floors.
http://www.helphimlive.com.

By: Paula Morris

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Pasantha aged 23. Spinal cord injury.Fell 3 floors. - Video

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Outdoor Recreation Equipment for Spinal Cord Injury Patients – Video


Outdoor Recreation Equipment for Spinal Cord Injury Patients
University of Utah Health Care #39;s Jeffrey Rosenbluth explains the drive behind the creation of custom outdoor recreation equipment for spinal cord injury pati...

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Advanced Care Veterinary Services Proves Stem Cell Therapy May Be the Best Weapon in Fighting Pet Pain Due to Arthritis

Lewisville, TX (PRWEB) September 05, 2013

Douglas P. Stramel, DVM, CVPP, CVMA owner of Lewisville based Advanced Care Veterinary Services and a certified Pain Practitioner and Veterinary Medical Acupuncturist has been a firm believer in stem cell therapy for over six years and continues to prove its effectiveness in relieving his patients from the chronic suffering that osteoarthritis can create.

A recent patient, Jake, suffered from pain caused by chronic osteoarthritis in both hips. At the young age of seven months he had special surgery on both hips, but unfortunately by seven years old this Catahoula dog was showing severe suffering and lameness. He had problems getting up from a lying position, decreased activity, and was taking a long regimen of anti-inflammatory and pain medications to manage his discomfort. Jakes range of motion in his back legs was very limited and when asked to move he would whimper in pain.

Jakes owners had become increasingly concerned, Jake wants to stay outside, hes less interactive with the family, limps while taking walks, and doesnt want to play ball. Previously these activities were Jakes favorite ways to pass time with his family. The pain had become so serious that Jake even hesitated to obey a sit command, only following with a whine and vocal protest. Jakes owners feared they may have exhausted all therapies for their beloved pet, but were relentless in their search to help him.

They found their answer at Advanced Care Veterinary Services with Dr. Stramel. His recommendation of stem cell therapy seemed to have unrealistic expectations, but was worth a try. In a matter of 48 hours Jake started the process by having a small amount of fat collected from his side that would be shipped overnight to Vet-Stems labs in California. There, Jakes fatty tissue would be processed to create small injectable doses of Jakes own concentrated stem cells to be put directly into the joints that were causing him pain. Two days after Jakes fat sample was collected he received a stem cell injection in each hip and a stem cell dose by IV.

Jake was able to start rehabilitation two weeks after his stem cell therapy where his range of motion increased as well as his willingness to be more active. It seemed stem cells were doing their job of decreasing pain and encouraging healing in Jakes arthritic joints. Jake steadily improved and was able to discontinue rehabilitation at six weeks. He stopped taking daily medications at eight weeks, and was able to minimize his physical health regimen to a supplement that supported his joint cartilage and a fatty acid diet. Jakes owners were very pleased with the progress, and could not believe his ability to play so aggressively that he wore the pads from his paws.

His first stem cell injection wasvery successful.It allowed Jake to run, play ball and swim. In May 2013 we decided that due to his age, we should utilize the stem cells that were in storage. It is amazing how this has improved Jakes functional ability. At age 11, Jake enjoys a full, pain-free life of running, playing ball and especially swimming. I believe the stem cell injections have prolonged his life as well as his functional status, Jerry & Debbie testify to Jakes improved quality of live.

Jake was able to live in comfort for years after his first stem cell therapy, only being treated a second time recently at a ripe age of 11 years old. His owners and Dr. Stramel are confident Jake has a few more good years left in him still.

Jakes response to the stem cells has dramatically improved his life and the life of his owners. He is one of many patients that we have treated and seen good success," reports Dr. Stramel.

About Advanced Care Veterinary Services Advanced Care Veterinary Services is proud to announce the opening of the first Pain Management and Rehabilitation Clinic in Lewisville, Texas. The first of its kind in the Dallas/Fort Worth metroplex, it has a state-of-the-art 4,000 square foot facility equipped with an indoor public canine pool, physical therapy, acupuncture, electrical stimulation, laser therapy, and other rehabilitative exercise activities. This new facility focuses on multi-modal pain management of osteoarthritis, intervertebral disc disease, and cancer. The clinic also offers cutting edge technology in obesity/weight management, geriatric and sport conditioning programs, and regenerative medicine including stem cell therapy for small animals. To find out more visit the website at http://stoppetpain.com/

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Advanced Care Veterinary Services Proves Stem Cell Therapy May Be the Best Weapon in Fighting Pet Pain Due to Arthritis

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Fisher BioServices Intensifies Commitment for Cell Therapy Companies in Clinical Trials and Approaching …

Rockville, Maryland (PRWEB) September 05, 2013

Fisher BioServices Inc., a leading provider of biorepository/biobanking and ultra cold chain logistics services, announced that Dan ODonnell, Associate Director of Cell Therapy Logistics, will speak at three upcoming industry conferences. Mr. ODonnell, who is widely known for his expertise on ultra cold chain distribution and regulatory compliance in transporting biologics and cryogenically frozen cell-based therapeutics, has been invited to present at the International Society for Cellular Therapy (ISCT) North America Regional Meeting in Philadelphia, Pennsylvania (September 811), the Stem Cell & Regenerative Medicine USA Congress in Cambridge, Massachusetts (September 30October 1), and the ColdChainIQ 11th Annual GDP & Temperature Management Logistics Global Forum in Chicago, Illinois (September 30October 4).

Mr. ODonnell will share his expertise on the challenges of moving high value biologics at ultra cold temperatures from the manufacturer to the patient bedsidein clinical trials as well as in the commercial marketplace. This will include an overview of how product packaging and clinical trial design can complicate logistics, add expense, and limit the number of clinical sites available for conducting phase II and phase III clinical trials. He will use a case study format to illustrate the technical challenges of meeting FDA requirements while moving products around the world at cryogenic temperatures, and share his experience with both autologous and allogeneic cell-based therapies.

Industry professionals whod like to learn more about the latest end-to-end cell therapy solutions from Fisher BioServices can register for Mr. ODonnells webinar - Ultra Cold Chain & Logistical Challenges in Cell Therapy Clinical and Commercial Development on October 10th, 2013. As Fisher BioServices Associate Director of Cell Therapy Logistics, Mr. ODonnell has worked with numerous clients and assisted them in designing and implementing their ultra cold chain strategies which include packaging, qualified shipping systems, and patient delivery mechanisms that are cost-effective and align with patient safety needs and FDA requirements. He brings extensive experience and insight to the process of commercialization and distribution of biological therapeutics. Mr. ODonnells webinar will include his insights and address some of the topics in his recent eBook, Commercially Successful Cell Therapies: Navigating the Ultra Cold Chain Distribution Minefield. Attendees will have the opportunity to ask questions. Mr. ODonnells eBook is available at blog.fisherbioservices.com. To learn more or register for the webinar, go to http://connect.fisherbioservices.com/webinar/cell_therapy_webinar_clinical_trials_commercialization

About Fisher BioServices

Fisher BioServices has 28 years of experience in biorepository/biobanking services, cold chain logistics, and related support services for health-related research. The company manages high value biological specimens, cell-based therapeutics, vaccines, tissues, and related data in support of both clinical and public health research; they store and distribute more than 170,000,000 samples in more than 20 facilities worldwide for government, academic, and pharmaceutical clients. Fisher BioServices is part of Thermo Fisher Scientific Inc., the world leader in serving science.

About Thermo Fisher Scientific

Thermo Fisher Scientific Inc. (NYSE: TMO) is the world leader in serving science. Our mission is to enable our customers to make the world healthier, cleaner and safer. With revenues of $13 billion, we have 39,000 employees and serve customers within pharmaceutical and biotech companies, hospitals and clinical diagnostic labs, universities, research institutions and government agencies, as well as in environmental and process control industries. We create value for our key stakeholders through three premier brands, Thermo Scientific, Fisher Scientific and Unity Lab Services, which offer a unique combination of innovative technologies, convenient purchasing options and a single solution for laboratory operations management. Our products and services help our customers solve complex analytical challenges, improve patient diagnostics and increase laboratory productivity. Visit http://www.thermofisher.com.

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Pioneering heart attack stem cell trial treats 1st patient

The first patient has been treated in a groundbreaking medical trial in Ottawa that could lead to a new way to repair damaged tissues following a heart attack.

Researchers announced Thursday that Harriet Garrow of Cornwall, Ont., who suffered a severe heart attack in July, was their first test subject. Her heart had stopped beating before she was resuscitated, causing major damage to her cardiac muscle.

The hope is that a new form of combined gene and stem cell therapy will be able to better repair her heart and those of potentially millions of other heart attack patients.

The therapy involves injecting a patient's own stem cells into their heart to help fix areas that become damaged in a heart attack. Stem cells are a fertile regenerative tissue that can replicate into millions of new, healthy cells.

But the Ottawa study, led by cardiologist Duncan Stewart of the Ottawa Hospital Research Institute, takes the technique one step further, combining the stem-cell treatment with gene therapy which the researchers say is novel.

"Stem cells are stimulating the repair. That's what they're there to do," Stewart said in an interview. "But what we've learned is that the regenerative activity of the stem cells in these patients with heart disease is very low, compared to younger, healthy patients."

To try to restore some of that regenerative capacity, Stewart and his colleagues will supply the stem cells with extra copies of a gene. The gene makes the cells produce more of an enzyme called endothelial nitric oxide synthase, which helps the damaged heart build up new blood vessels and heal itself.

"That, we think, is the key element," he said. We really think it's the genetically enhanced cells that will provide the advantage."

The study will see 100 severe heart attack patients in Ottawa, Toronto and Montreal randomly selected to receive the combined gene-and-stem-cell therapy, stem cell therapy alone, or a placebo.

It follows years of landmark research by prominent German cardiologist Bodo-Eckehard Strauer on using stem cells to treat heart attack patients. Strauer long held that stem cells can help repair diseased hearts, but his findings have come under increasing attack. A paper published earlier this summer in the International Journal of Cardiology picked apart 48 published papers from Strauer's research group, finding evidence of hundreds of arithmetic errors, inconsistencies in the data and other problems.

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UCSF receives $4.5M to study value of gene sequencing in newborns

Public release date: 4-Sep-2013 [ | E-mail | Share ]

Contact: Kristen Bole kristen.bole@ucsf.edu 415-502-6397 University of California - San Francisco

UC San Francisco will receive $4.5 million over the next five years for a pilot project to assess whether large-scale gene sequencing aimed at detecting disorders and conditions can and should become a routine part of newborn testing.

The study is one of four projects launched today by the National Institutes of Health to identify the accuracy and feasibility of providing genetic sequencing as part of, or instead of, the current newborn screening that relies on biochemical changes in the blood. It also will assess what additional information would be useful to have at birth and the ethics and public interest in having such tests performed.

Genomic sequencing has the potential to diagnose a vast array of disorders and conditions at the very start of life, said Alan E. Guttmacher, MD, director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (ICHD), which is jointly funding the studies. But the ability to decipher an individuals genetic code rapidly also brings with it a host of clinical and ethical issues, which is why it is important that this program explores the trio of technical, clinical, and ethical aspects of genomics research in the newborn period.

The pilots are a core element of the emerging field of precision medicine, which aims to harness vast amounts of genetic and health data to create predictive, preventive and precise care for patients on an international scale. Doing so has the potential to transform medicine, but there are many logistical and ethical hurdles to resolve along the way.

The UCSF team, which also includes bioinformatics experts at UC Berkeley and the Buck Institute for Research on Aging, will study the potential of sequencing the exome the roughly 2 percent of DNA that represents genes which code for proteins as a method of newborn screening. The research will look at the exomes potential for identifying disorders that California currently includes in the newborn screen, as well as those that are not currently screened for, but for which newborns may benefit if detection can occur early in life.

The UCSF research will examine the issue from three vantage points. The first will be a partnership with the California Department of Public Health (CDPH) to test blood drops previously collected from 1,400 children statewide who received standard newborn screening, to determine whether exome sequencing would be more accurate and also whether it provides insights that could lead to improved newborn screening, care and treatment.

My hope is that this will give us solid information on the specificity of gene testing, versus standard biochemical testing, for the disorders we are already screening for, said Robert Nussbaum, MD, who leads the UCSF Division of Medical Genetics and holds the Holly Smith Distinguished Professorship in Science and Medicine at UCSF. In addition, some of the disorders we pick up during screening are chemical abnormalities, but we dont know whether they will actually cause problems for the child. Wed like to know whether there is something in the childrens genes that determines whether these abnormalities actually will cause disease.

The second project will offer genetic testing to patients in a UCSF immune system disorders clinic run by Jennifer Puck, MD, a pediatrician in the UCSF Benioff Childrens Hospital whose research laboratory pioneered the current newborn test for Severe Combined Immunodeficiency (SCID). Parents will be asked to give informed consent for this arm of the project.

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UCSF receives $4.5M to study value of gene sequencing in newborns

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New ovarian cancer gene found in mice

Editor's Choice Academic Journal Main Category: Ovarian Cancer Also Included In: Cancer / Oncology Article Date: 05 Sep 2013 - 3:00 PDT

Current ratings for: New ovarian cancer gene found in mice

2 (1 votes)

Cancer Research UK scientists have discovered a gene that repairs damaged DNA is also linked to ovarian cancer in mice. They say if the gene - known as Helq - is faulty or missing, DNA errors accumulate as cells multiply, and this raises the chance of developing the cancer.

They write about their findings in the September 4th online issue of Nature.

According to the American Cancer Society (ACS), ovarian cancer accounts for about 3% of cancers among women, but it is responsible for more deaths than any other cancer of the female reproductive system.

The ACS estimates that in 2013, around 22,240 women in the US will discover they have ovarian cancer, and 14,030 will die of the disease.

In the UK, every year around 7,000 women are diagnosed with ovarian cancer, and about 4,300 die from it, according to figures from Cancer Research UK.

The main reason for the high numbers of deaths relative to new cases is because ovarian cancer is hard to diagnose early and treat successfully.

Dr. Julie Sharp, the senior science information manager at Cancer Research UK says:

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Best & Brightest: Victoria Reynolds, Aspengrove

When it comes to carving out a future, figure skater Victoria Reynolds is keeping an open mind.

The 18-year-old Aspengrove graduate is heading to Vancouver Island University this fall, with plans to explore genetic engineering.

But dont expect this student to lock herself into any career path yet.

If there is one thing this athlete has learned in the rink, its the importance of being open to possibilities.

Reynolds discovered figure skating three years ago through a Nanaimo parks and recreation program.

She was the oldest person in the group and had more fear and reservations about hitting the ice than any of the other aspiring skaters. If that wasnt enough, most skaters her age outside the recreation program were much faster and skilled than she was, Reynolds said.

Its difficult starting out when you are older and watching a lot of the people your age being miles ahead of where you are, she said.

But with an open mind, discipline and determination, Reynolds opted to persevere in the sport. Any time she sees someone her age in the rink, it pushes her to be at a higher level, she said.

Reynolds plans to apply the same outlook on possibilities and hard work in her post-secondary school studies.

At the moment I am interested in genetics, but who knows if I will find something else I will enjoy? she asked, adding she hopes to get her bachelor of science. At the moment I am keeping everything open.

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Best & Brightest: Victoria Reynolds, Aspengrove

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Why do black women have a higher risk of death from heart disease than white women?

Public release date: 5-Sep-2013 [ | E-mail | Share ]

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY -- Among a group of women with symptoms of angina who were tested for a suspected coronary blockage, nearly 3 times as many black women as white women died of heart disease. The study determined whether differences in the women's angina symptoms could affect the risk of death in these two groups, and the researchers report their findings in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Women's Health website at http://www.liebertpub.com/jwh.

Jo-Ann Eastwood, PhD and a team of researchers from medical institutions across the U.S. found that for white women, the severity or type of anginal symptoms -- whether typical chest pain or more atypical symptoms such as stomach pain -- did not affect outcomes. However black women tended to have more atypical symptoms, a worse prognosis when diagnosed with heart disease, and a higher risk of related death.

In the article "Anginal Symptoms, Coronary Artery Disease, and Adverse Outcomes in Black and White Women: The NHLBI-Sponsored Women's Ischemia Syndrome Evaluation (WISE) Study," the authors conclude that these racial differences in symptom presentation for coronary artery disease may be a barrier to correct and timely diagnosis and an important contributor to poorer outcomes for black women.

"These results indicate that we need to raise awareness among women and their healthcare providers of racial differences in anginal symptom presentation in order to improve both diagnosis and outcomes," says Susan G. Kornstein, MD, Editor-in-Chief of Journal of Women's Health, Executive Director of the Virginia Commonwealth University Institute for Women's Health, Richmond, VA, and President of the Academy of Women's Health.

###

About the Journal

Journal of Women's Health, published monthly, is a core multidisciplinary journal dedicated to the diseases and conditions that hold greater risk for or are more prevalent among women, as well as diseases that present differently in women. The Journal covers the latest advances and clinical applications of new diagnostic procedures and therapeutic protocols for the prevention and management of women's healthcare issues. Complete tables of content and a sample issue may be viewed on the Journal of Women's Health website at http://www.liebertpub.com/jwh. Journal of Women's Health is the Official Journal of the Academy of Women's Health and the Society for Women's Health Research.

About the Academy

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Why do black women have a higher risk of death from heart disease than white women?

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New recommendations for standardizing studies of thyroid hormone and disease from ATA taskforce

Public release date: 5-Sep-2013 [ | E-mail | Share ]

Contact: Bill Schappert bschappert@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, September 4, 2013Despite tens of thousands of studies in the literature on the thyroid gland, thyroid hormone, and thyroid disease, lack of standardization in study design makes it difficult to compare the results and apply them to the development of improved diagnostic and treatment approaches. A new report from the American Thyroid Association's Taskforce on Approaches and Strategies to Investigate Thyroid Hormone Economy includes 70 specific recommendations and accompanying commentaries on a range of topics. The report is available free online on the Thyroid website. Thyroid, the peer-reviewed journal from Mary Ann Liebert, Inc., publishers, is the official journal of the American Thyroid Association (ATA).

Understanding the physiology of the thyroid gland and the activity of thyroid hormone in healthy individuals and in patients with disorders such as hypothyroidism, hyperthyroidism, and thyroid cancer is essential for developing new, more effective clinical practice and therapeutic strategies. Much knowledge is gained from studying thyroid tissue and thyroid hormone in animal and cell models.

Antonio C. Bianco, University of Miami Miller School of Medicine, and Chair of the ATA Taskforce, led a team of specialists in basic thyroid research in a review of the literature to identify which experimental practices would benefit from standardization. The panel of experts then defined consensus recommendations for how best to standardize study design and experimental approaches to achieve more reproducible results, in the "American Thyroid Association Guide to Investigating Thyroid Hormone Economy and Action in Rodent and Cell Models."

"This is an outstanding and comprehensive guide for translational and basic research scientists that has filled an important gap in our thyroid research field," says Bryan R. Haugen, MD, President of the ATA and Professor of Medicine and Pathology, Head, Division of Endocrinology, Metabolism & Diabetes, Mary Rossick Kern and Jerome H. Kern Chair in Endocrine Neoplasms Research, University of Colorado School of Medicine. "Dr. Bianco and the entire Taskforce are to be commended for developing this authoritative and extremely useful reference."

"This is a unique compilation of detailed recommendations for performing experiments focusing on the pathophysiology of the thyroid using cell and animal models. It will guide numerous researchers how to best conduct these experiments and will lead to more standardized approaches in many laboratories worldwide," says Peter A. Kopp, MD, Editor-in-Chief of Thyroid and Associate Professor of Medicine, Division of Endocrinology, Metabolism and Molecular Medicine, and Interim Director of the Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago.

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About the Society

The American Thyroid Association (ATA) is the leading organization devoted to thyroid biology and to the prevention and treatment of thyroid disease through excellence in research, clinical care, education, and public health. ATA is an international membership medical society with over 1,600 members from 43 countries around the world. Celebrating its 90th anniversary, ATA delivers its mission through several key endeavors: the publication of highly regarded monthly journalsThyroid, Clinical Thyroidology, and Clinical Thyroidology for Patients; annual scientific meetings; biennial clinical and research symposia; research grant programs for young investigators, support of online professional, public and patient educational programs; and the development of guidelines for clinical management of thyroid disease and thyroid cancer. The ATA has extensive online information on their website on thyroid disease and thyroid cancer for patients in both English and Spanish. The ATA website serves as the authoritative clinical resource for patients and the public who look for reliable information and physician referral on the Internet.

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Peering into genetic defects, CU scientists discover a new metabolic disease

Public release date: 5-Sep-2013 [ | E-mail | Share ]

Contact: Dan Meyers dan.meyers@ucdenver.edu 303-724-7904 University of Colorado Denver

An international team of scientists, including University of Colorado School of Medicine and Children's Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.

The disorder is rare but can be devastating.

"Some people with rare inherited conditions cannot process vitamin B 12 properly," says CU researcher Tamim Shaikh, PhD, a geneticist and senior author of a paper about the new disease. "These individuals can end up having serious health problems, including developmental delay, epilepsy, anemia, stroke, psychosis and dementia."

The discovery is important because it could help doctors diagnose the disease and, eventually, could lead to prevention or treatment. But there is more to the story than that.

A 9-year-old Colorado boy named Max Watson, who because of his metabolic disease uses a computer to communicate, was the first patient in whom this discovery was made.

His older sister Abbey, 15, volunteered in the CU lab that helped achieve this medical breakthrough.

His parents cooperated with the study knowing that the results likely would not help their son but might help future patients.

The discovery, published today in The American Journal of Human Genetics, illustrates the complex and relatively new realm of medical discovery where researchers peer into the genetic make-up of patients to discern what went wrong to cause a disease.

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Penn Medicine Researchers Pin Down the Genetics of Going Under

Newswise PHILADELPHIA - Falling asleep in your bed at night and being put to sleep under general anesthesia as well as waking up in the morning or coming out of anesthesia arent quite the same thing, yet they share some important similarities. Max Kelz, MD, PhD, assistant professor of Anesthesiology and Critical Care at the Perelman School of Medicine at the University of Pennsylvania, along with colleagues from Penn, UCSD, Howard Hughes Medical Institute, and Thomas Jefferson University, explored the distinctions between anesthetic unconsciousness and sleep by manipulating the genetic pathways known to be involved in natural sleep and studying the resulting effects on anesthetic states. Their work will be published in PLOS Genetics.

Previous research by Kelzs team pointed to a neurological barrier, called neural inertia, that separates awareness from anesthetic unconsciousness and resists the transition from one state to the other. They also found that the processes by which the brain enters anesthesia and then later reemerges into consciousness are actually quite different -- one isnt simply the reverse of the other. With this knowledge in hand, Kelz and his colleagues used a Drosophila model system to focus on the genetic pathways controlling neural inertia. In this new study we sought to understand whether anesthetics were working on some of the natural systems that regulate normal sleep and wakefulness, says Kelz.

They found that four genes involved in natural sleep, Sh (Shaker), sss (sleepless), na, and unc79, also control neural inertia and thus the effects of induction and emergence of anesthetic unconsciousness. Various mutations in these four genes profoundly affect neural inertia and can even collapse it completely. For example, says Kelz, Mutations in the sleepless gene can cause some resistance to entering an anesthetic state, and an even larger impact on the exit from the anesthetic state. Flies with the sleepless mutation pop out of the anesthetic state at doses at which their normal siblings are still entering. When we moved sleepless around to different parts of the fly brain to figure out the circuits in which the gene works to alter wakefulness or the propensity to enter an anesthetic state, we found that we could completely dissociate the forward process of entering an anesthetic state from the reverse process of exiting.

This latest work confirms the existence of neural inertia as a state that naturally resists a change in the brains consciousness, similar to a phenomenon studied by sleep scientists. Sleep inertia is a phenomenon in which it can take minutes to hours before full cognitive power returns to us when we are abruptly awakened from natural sleep, Kelz explains. We modeled the idea [neural inertia] off the natural process of sleep inertia. Not much is known mechanistically about sleep inertia or why that happens, but here we see the anesthetics as a model potentially for helping to understand sleep inertia.

Aside from distinct differences between induction of and emergence from anesthesia, the work shows that the neural pathways involved can vary with different anesthetic drugs. The present study was largely conducted using isofluorane, a common general anesthetic, but there seem to be many neurological roads to anesthetically-induced unconsciousness, not all of which involve the same genes. The experimenters found that with a different drug, halothane, their Drosophila subjects reacted quite differently.

While Id like to say that theres one general set of neurons upon which anesthetic drugs work, its very clear that its not that simple, Kelz says. Individual anesthetic agents probably have distinct molecular targets and have differential effects on some of the underlying circuits that help maintain wakefulness. When we looked at halothane, we found is that the story of these four genes [Sh, sss, na, and unc79] doesnt explain halothanes action. So were really just scratching the surface in understanding a single anesthetic, isofluorane. Theres undoubtedly much more going on before we can start to speak about any anesthetic or a generic anesthetic.

Trying to identify just how well the analogy of sleep as a metaphor for anesthesia holds is important not just from a scientific standpoint, but also from a therapeutic one. There are some downsides to using existing anesthetic drugs, Kelz points out. If we understood the good features of the anesthetics, the ways in which they cause a loss of consciousness, and if we could replicate the desirable effects by specifically tuning the brains natural systems that regulate arousal, we might be able to avoid some of the undesirable actions of the anesthetic.

Such understanding could also benefit coma patients and those suffering from sleep disorders. We might be able to come up with strategies for helping to extract patients from vegetative states, or come up with some novel therapies or ideas to treat many of the issues that plague sleep medicine, Kelz says.

Other Penn authors include Eliot B. Friedman, MD, Hsiao-Tung Hung, Mallory Sowcik, and Amita Sehgal, PhD.

The study was funded by grants from the National Institutes of Health (R01 GM088156, R01 NS072431), the Howard Hughes Medical Institute, the University of Pennsylvania's Institute for Translational Medicine and Therapeutics, the Whitehall Foundation, the Harold Amos Medical Faculty Development Program from the R.W. Johnson Foundation, and the Perelman School of Medicine Department of Anesthesiology and Critical Care.

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Sequencing seizures: Discovering new genetic mutations behind epilepsy

Neurologist Prof Sam Berkovic and molecular geneticist Prof David Goldstein describe their work uncovering chance mutations that cause childhood epilepsy.

DYANI LEWIS I'm Dyani Lewis, thanks for joining us. The Human Genome Project, which published a completed sequence of our entire genetic code in 2003, introduced the world to large scale genomic sequencing efforts. Since then genome sequencing has become both faster and far more affordable. The result is that researchers and geneticists are now employing powerful sequencing strategies to investigate a great number of conditions, many for which a genetic cause has long been a mystery.

Epilepsy is one such condition and today on Up Close I am joined by two researchers who are using genomic sequencing technologies to identify the needle, or in this case the needles, in the haystack. They are looking for which genes out of the 20,500-odd genes in our genome are the faulty ones that cause epilepsy. My first guest today on Up Close is neurologist and epileptologist Professor Sam Berkovic. Sam is director of the Epilepsy Research Centre in Melbourne and Laureate Professor in the Department of Medicine at the University of Melbourne. Welcome to Up Close, Sam.

SAM BERKOVIC Thank you, Dyani.

DYANI LEWIS I'm also joined by Professor David Goldstein, Professor of Molecular Genetics and Microbiology, Professor of Biology and Director of the Centre for Human Genome Variation at Duke University. Welcome to Up Close, David.

DAVID GOLDSTEIN Thank you, it's good to be here.

DYANI LEWIS Sam, we refer to epilepsy as a single condition, but it's actually more correct to say epilepsies, isn't it?

SAM BERKOVIC That's absolutely right. The epilepsies signify a group of diseases where the sufferers have epileptic seizures and we've learned that far from being a single condition it's very heterogeneous, both from what we see as clinicians and even more so now that we're digging into their molecular bases.

DYANI LEWIS When you make a diagnosis of epilepsy, is it just on the basis of these seizures then?

SAM BERKOVIC The diagnosis is based on what the patient suffers, which are the epileptic seizures, but together we traditionally put together investigations, such as the electro-encephalogram, the recording of brainwaves, and also and very importantly brain imaging, where we get a picture of the structure of the brain, which sometimes gives us the answer to what caused the epilepsy. But more often than not it does not and that's particularly where genetics comes in.

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Sequencing seizures: Discovering new genetic mutations behind epilepsy

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Genetic factor responsible for triggering heart attacks identified

Washington, Sept. 05 (ANI): A genetic factor that blocks the blood vessel inflammation that can lead to heart attacks, strokes and other potentially life-threatening events has been identified by a Indian origin researcher.

The breakthrough involving Kruppel-like factor (KLF) 15 is the latest in a string of discoveries from the laboratory of professor of medicine Mukesh K. Jain, MD, FAHA, that involves a remarkable genetic family.

School of Medicine instructor Yuan Lu, MD, a member of Jain's team and colleagues observed that KLF-15 blocks the function of a molecule called NF-kB, a dominant factor responsible for triggering inflammation.

"It had been suspected that smooth muscle cells were related to inflammation, but it hadn't been pinpointed and specifically linked to disease," Jain, Ellery Sedgwick Jr. Chair and director, Case Cardiovascular Research Institute at Case Western Reserve School of Medicine said.

He said that this work provides cogent evidence that smooth muscle cells can initiate inflammation and thereby promote the development of vascular disease.

Smooth muscle cells are only one of two major cell types within blood vessels walls. The other cell type, endothelium, has traditionally taken the blame for inflammation, but Jain's study suggests that both cells are critically important in the development of vascular disease.

The researchers learned that expression of this factor appeared mainly in smooth muscle cells and that levels were markedly reduced in atherosclerotic human blood vessels. To establish causality, the team generated genetically-modified mice where they deleted KLF-15 gene in smooth muscle cells.

The study is published in the Journal of Clinical Investigation. (ANI)

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Genetic factor responsible for triggering heart attacks identified

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Genetics problems 1 (introduction) – Video


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Genetics problems 4 (incomplete dominance) – Video


Genetics problems 4 (incomplete dominance)
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Genetics problems 6 (Codominance) – Video


Genetics problems 6 (Codominance)
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Genetics problems 7 (lethal gene) – Video


Genetics problems 7 (lethal gene)
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Myriad Genetics launches improved test for breast, other cancers

(Courtesy photo) The myRisk Hereditary Cancer test is a multi-gene panel that analyzes 25 genes associated with eight major cancers, including gastric, pancreatic, prostate, colorectal (for colon and rectal cancers), endometrial, melanoma, ovarian and breast. It was developed by Myriad Genetics Inc. in Salt Lake City.

Health Analysis of 25 genes is more extensive than older tests but costs same.

Myriad Genetics Inc., has launched Thursday an all-in-one cancer test that is more extensive but costs the same as older tests.

The myRisk Hereditary Cancer test analyzes 25 genes associated with eight major cancers, including breast, gastric, pancreatic, prostate, colorectal (for colon and rectal cancers), endometrial, melanoma and ovarian. Before, Myriad had five cancer tests that analyzed a total of 11 genes.

"The tests have gone through extensive validation to assure there is a 100 percent accuracy of the test result," said Mark Capone, president of Myriad Genetics, which is headquartered at the University of Utahs Research Park in Salt Lake City. "If you get a positive test result and there is a mutation. . .there is a very high risk you could end up with one of these eight cancers."

Capone said that if a patient tests positive for a mutant form of one of the 25 genes, it could mean the person has a 20 to 87 percent increased chance of getting the cancer associated with that gene.

"Any one of these genes would significantly increase your risk for at least one of the eight cancers," he said. "So you would definitely want to immediately take some additional medical management as a result of that."

The myRisk Hereditary Cancer test will replace Myriads five older cancer panels or tests. One of those older tests was the BracAnalysis, a Myriad panel that analyzed a patient for a mutant form of the BRCA1 and BRCA2 genes, the same test that actress Angelina Jolie took to find out if she was at high risk for breast cancer. When the results were positive for the mutant gene, Jolie underwent a double mastectomy as a preventative measure.

The listed price for the myRisk Hereditary Cancer test is about $4,000, the same cost of one of the older tests. "The price for the 25-gene panel is the same as the price for the two-gene BracAnalysis product, so we have kept the price the same but significantly increased the amount of information," Capone said.

He added, however, that most out-of-pocket expenses for the test through insurance would be less than $100. More than 97 percent of insurance companies cover the test, he said.

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