Archive for the ‘Gene Therapy Research’ Category

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Good Start Genetics, Inc.,an innovative molecular diagnostics company harnessing a powerful, proprietary next-generation DNA sequencing (NGS) capability, today announced that new data further exemplifying the clinical value of the GoodStart SelectTM carrier screening test were presented this week at the at the 2013 American Society for Reproductive Medicine (ASRM) Annual Meeting being held in conjunction with the International Federation of Fertility Societies (IFFS). The data demonstrate that 8.4% of carriers of genetic diseases would have been missed using other available technologies.

Accurate carrier screening provides couples with the personalized genetic information needed to best understand the risks of conceiving a child with a debilitating or fatal inherited disease prior to becoming pregnant, stated Don Hardison, president and chief executive officer of Good Start Genetics. Our goal is to deliver the premier solution for genetic screening in reproductive medicine, and be the preferred partner for the development of clinically relevant and commercially viable NGS-based diagnostics in reproductive medicine and beyond. These data further reinforce the differentiated accuracy and clinical relevance our product brings to the carrier screening market and to couples seeking to make informed decisions prior to undertaking the financial and emotional investment of in-vitro fertilization.

Enhanced Detection through Next Generation Sequencing

In a poster presentation titled, Carrier Screening Of 16,500 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations Across Society-Recommended Diseases, data demonstrate that Good Start Genetics NGS platform detected significantly more mutations than common screening assays, specifically 39% of distinct disease causing mutations detected by NGS would have been missed with traditional screening. In a clinical setting (in vitro fertilization (IVF) centers across the US), evaluating 16,481 patients, 771 pathogenic mutations among 15 genes were detected. Had traditional screening assays been used, 8.4% (95% CI: 6.6-10.6) of all carriers identified across these diseases would have been missed. Excluding cystic fibrosis (a well-characterized disease), 19.4% (95% CI: 14.7-24.7) of carriers would have been missed, vastly increasing the risk of a reproductive couple conceiving a child with a debilitating or fatal genetic disorder. The data were presented in program number P048.

Validation of Disease-Causing Mutations

In a second poster presentation, A Rigorous Process for Selecting an Optimal Mutation Set for Population-Based Carrier Screening, the authors describe the identification, pathogenic confirmation and curation of known human genetic mutations that cause genetic disorders recommended for screening by leading medical societies. Through a clinically-focused review of more than 1,000 publications and annotation of more than 2,700 variants, the researchers built and validated a comprehensive yet highly specific set of 975 mutations for 15 genes, with the clinical goal of increased carrier detection rates and avoidance of variants of unknown significance. The data were presented in program number P018.

ASRM is a multidisciplinary organization dedicated to the advancement of the art, science and practice of reproductive medicine. The 2013 ASRM Annual Meeting is dedicated to transforming reproductive medicine worldwide and is attended by global thought-leaders and practitioners from the reproductive health community, including reproductive endocrinologists, embryologists and allied health professionals.

IFFS represents most of the worlds scientific and clinical societies working with IVF, and assisted reproduction generally. Founded in 1951, the mission of IFFS is to stimulate basic and clinical research, disseminate education and encourage superior clinical care of patients in infertility and reproductive medicine worldwide.

About GoodStart Select

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New Data Show That ~10% of Carriers Good Start Genetics Detects Are Missed by Conventional Screening Tools

Newswise AveXis and BioLife, synthetic biology platform companies, today announced that The Research Institute at Nationwide Childrens Hospital received Fast Track designation from the U.S. Food and Drug Administration for its scAAV9.CB.SMN gene therapy product for the treatment of spinal muscular atrophy (SMA). This new gene therapy product created by scientists at The Research Institute was granted Fast Track status after demonstrating preliminary effectiveness in mouse models of SMA, potentially addressing this unmet medical need.

"Fast track," an important hastened phase in the nation's drug review and approval process, signifies that the FDA can expedite the review and development of the scAAV9.CB.SMN gene therapy product which, in preclinical work, has shown to slow the progression of SMA symptoms.

SMA is the most common genetic cause of infant death. SMA is an autosomal recessive disease caused by a genetic defect in the SMN1 gene that encodes for the SMN protein. SMA manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment.

The scAAV9.CB.SMN gene therapy product currently being developed by The Research Institute, received an IND approval in September 2013 to initiate Phase I clinical testing in SMA Type 1patients.The clinical trial is sponsored by The Sophias Cure Foundation and AveXis/BioLife.

Todays notice of Fast Track designation is welcomed news. This demonstrates to the families afflicted with SMA, the FDAs regulatory priority for addressing this orphan disease, said Chief Executive Officer John A. Carbona.

About Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is an autosomal-recessive genetic disorder characterized by progressive weakness of the lower motor neurons. SMA is caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons. SMA kills more infants than any other genetic disease in today's world.

About Nationwide Childrens Hospital Ranked in all 10 specialties in U.S. News & World Reports 2013-2014 Best Childrens Hospitals and among the Top 10 on Parents magazines 2013 Best Childrens Hospitals lists, Nationwide Childrens Hospital is one of the nations largest not-for-profit freestanding pediatric healthcare networks providing care for infants, children, adolescents and adult patients with congenital disease. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Childrens Hospital faculty train the next generation of pediatricians, scientists and pediatric specialists. The Research Institute at Nationwide Childrens Hospital is one of the top 10 National Institutes of Health-funded free-standing pediatric research facilities in the U.S., supporting basic, clinical, translational and health services research at Nationwide Childrens Hospital.

About AveXis, Inc. Based in Dallas, Texas, AveXis is a synthetic biology platform company establishing unique industry alliances to create innovative treatments for people with unmet medical needs. Spinal muscular atrophy (SMA) is the companys first focus.

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AveXis and BioLife Announce The Research Institute at Nationwide Children's Hospital Received Fast Track Status for ...

Purtier Placenta Live Stem Cell Therapy Miracle - Mr Lee Kay Hoy - Osteoporosis, Sensitive Nose
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Dr. K. Krishnaiah talks about Stem Cell therapy to TV7
Mediciti Hospitals is bringing to India a novel stem-cell based technique for "cartilage regeneration" which can replace knee replacement procedures. Our chi...

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WASHINGTON: A rare genetic mutation associated with Alzheimer's disease has been found to accelerate the loss of brain tissue and lead to quicker mental decline, researchers said Wednesday.

People with the TREM2 gene variant lost brain tissue twice as fast as healthy elderly people, according to research published in the New England Journal of Medicine.

"This is the first study to use brain scans to show what this gene variant does, and it's very surprising," said co-author Paul Thompson of the University of Southern California.

"This gene speeds up brain loss at a terrific pace."

Thompson and colleagues did magnetic resonance imaging (MRI) scans on 478 adults, whose average age was 76, over the course of two years.

They found that mutation carriers lost 1.4 per cent to 3.3 per cent more of their brain tissue than non-carriers, and the deterioration happened twice as fast.

Brain tissue loss was concentrated in memory centers of the brain, including the temporal lobe and hippocampus.

The TREM2 variant was first described in January as rare mutation, existing in about one percent of the North American and European population, that could triple a person's lifetime risk of Alzheimer's disease.

Subsequent study has confirmed the mutation's link to Alzheimer's in blacks as well.

The genetic mutation has also been linked to an increased likelihood of Parkinson's disease and a rare form of early brain decline called Nasu-Hakola disease.

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Gene mutation speeds up brain decline in Alzheimer's

SLIP, SLOP, SLAP: New research shows there are now even more reasons to wear sunscreen.

Sunscreen not only prevents sunburn but protects a "superhero gene" that fights all three forms of skin cancer, Australian researchers have discovered.

Researchers at the Queensland University of Technology have conducted a "world-first" human study examining the impact of sunscreen at the molecular level.

They have found that sunscreen not only provides 100 per cent protection against sunburn, but also shields the important p53 gene, which works to prevent all three forms of skin cancer - BCC (basal cell carcinoma), SCC (squamous cell carcinoma) and malignant melanoma.

Lead researcher Dr Elke Hacker said the study found repeated sunburn could damage the p53 gene, preventing it from doing its life-saving work.

"As soon as our skin becomes sun damaged, the p53 gene goes to work repairing that damage and thereby preventing skin cancer occurring," Hacker said.

"But over time if skin is burnt regularly the p53 gene mutates and can no longer do the job it was intended for - it no longer repairs sun damaged skin and without this protection skin cancers are far more likely to occur."

Fifty-seven people who participated in the study underwent a series of skin biopsies to determine how UV exposure affected molecular changes in their skin.

Two skin spots on each particpant were exposed to a mild dose of UV light, but sunscreen was applied to only one spot.

Researches tested the two skin spots after 24 hours and found that where sunscreen had been applied there were no DNA changes and no damage to the p53 gene.

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Sunscreen protects cancer-fighting gene

NEW YORK, NY--(Marketwired - October 16, 2013) - The Breast Cancer Research Foundation (BCRF) today announced its dedication of $45 million to breast cancer research at its annual Symposium and Awards Luncheon yesterday. The 2013-2014 grants, awarded to 207 doctors and scientists, build on the foundation's 20-year commitment to advance the world's most innovative research and address such critical areas as genetics, immunotherapy, tumor biology, quality of life and metastasis.

BCRF Scientific Director Dr. Larry Norton and Dr. Clifford Hudis, Chairman of BCRF's Scientific Advisory Board and President of the American Society of Clinical Oncology, moderated the Symposium, titled "You Are Living in the Renaissance of Medical Science." The two doctors were joined by BCRF researchers Robert Vonderheide, MD, D.Phil (University of Pennsylvania Abramson Cancer Center), Nancy Davidson, MD (University of Pittsburgh Cancer Institute) and Titia de Lange, PhD (The Rockefeller University), who discussed a number of topics including the genetic connections between cancers andimmunotherapy as a means of vaccinating breast cancer. During the Symposium, many of the world's cancer experts who are also BCRF grantees, such as Mary-Claire King, PhD (University of Washington) and Funmi Olopade, MD, FACP (University of Chicago Medical Center), spoke openly with the audience about everything from BRCA gene mutations to obesity's role in increased breast cancer risk.

After the Symposium, more than 165 BCRF researchers joined 1,000-plus guests for the Awards Luncheon, which honored their work and paid tribute to two remarkable individuals. Longtime donor, Gail Siegal, received the Sandra Taub Humanitarian Award for her unending efforts to support lifesaving research. The Jill Rose Award for outstanding research excellence was presented to Dr. de Lange, who won the 2012 "Breakthrough Prize in Life Sciences" established by Facebook's Mark Zuckerberg and Google's Sergey Brin, among others. Dr. de Lange was recognized for her groundbreaking contributions to research on telomeres (the protective ends of chromosomes) and their relationship to aging and the spread of breast cancer.

During her acceptance speech, Dr. de Lange talked about how BCRF was instrumental in getting her to focus on breast cancer. "This award is particularly important to me because it symbolizes what BCRF has done for me and my research. I will never turn away from this problem now. I will stick with the cancer problem and continue to work hard to better understand, treat, and prevent breast cancer in the future."

In addition to the grant awards, beloved BCRF board member and prominent New York philanthropist, Cynthia Lufkin, who passed away in July, was commemorated by longtime friend, Muffy Potter Aston, and through a moving performance by rising country singer and star of Lifetime TV's Chasing Nashville, Autumn Blair.

The annual Symposium and Awards Luncheon is BCRF's premier fundraiser, bringing together the leading minds in medical science with the philanthropic community dedicated to the fight against breast cancer. This year's event, which took place at the Waldorf Astoria, raised $2.1 million.

Event co-chairmen and notable guests included William Lauder, Tory Burch, Caryn Zucker, Gigi Mortimer, Clarissa Alcock Bronfman, Dan Lufkin, Anne H. Bass, Gail Hilson, Laura Lauder, Betsy S. Green, Arlene Taub, Rebecca Amon, Marjorie Reed Gordon, Ronnie F. Heyman, Wendi Rose, Marisa Acocella Marchetto, Jeanne Siegel, Adrienne Vittadini, Libby Pataki and Roz Goldstein.

Sponsors: Bloomberg, Cond Nast, Conquer Cancer Foundation of ASCO, Hazen Polsky Foundation, Alexandra Herzan, Kinga Lampert, Polo Ralph Lauren Foundation, Rolex Watch USA, and The Henry and Marilyn Taub Foundation.

Follow @BCRFcure and join the conversation via #BCRF and #ResearchCan.

About The Breast Cancer Research Foundation Founded by Evelyn H. Lauder in 1993, The Breast Cancer Research Foundation has raised more than $450 million in the last 20 years to advance the world's most promising breast cancer research to achieveprevention and a cure in our lifetime. In October 2013, BCRF awarded $45 million to support the work of more than 200 researchers at major medical institutions across sixcontinents.By spending 91 cents of every dollar onresearch and awareness programs, BCRF remainsone of the nation'smost fiscally responsible charities.It hasearned four stars from Charity Navigator since 2002 and is the only breast cancer organizationawardedan "A+" from CharityWatch. For more information,visitwww.bcrfcure.org. To donate, go to donations.bcrfcure.org/donate-now.

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The Breast Cancer Research Foundation Announces $45 Million in Research Grants

October 16, 2013

redOrbit Staff & Wire Reports Your Universe Online

A persons willingness to volunteer and help others could be influenced by a gene that also impacts his or her level of social anxiety, according to research published in Septembers edition of the journal Social Neuroscience.

The paper, which the authors believe is the first to describe this particular pathway, explained that prosocial behavior is related to the same gene that predisposes certain men and women to anxiety disorders. Helping those people cope with that anxiety could ultimately result in an increase in their prosocial behaviors.

Prosocial behavior is linked closely to strong social skills and is considered a marker of individuals health and well-being, said Gustavo Carlo, a professor at the University of Missouri College of Human Environmental Sciences. Social people are more likely to be healthier, excel academically, experience career success and develop deeper interpersonal relationships that may help alleviate stress.

He and fellow study author Scott Stoltenberg, a behavioral geneticist at the University of Nebraska-Lincoln, explained that the gene, officially identified as the 5-HTTLPR triallelic genotype, has an effect on the amygdala, a region of the brain that plays a role in emotional reactions such as fear. They found that people with the recessive version of the gene were more likely to take risks socially and help others.

Previous research has shown that the brains serotonin neurotransmitter system plays an important role in regulating emotions, Stoltenberg said in a statement. Our findings suggest that individual differences in social anxiety levels are influenced by this serotonin system gene and that these differences help to partially explain why some people are more likely than others to behave prosocially.

He added that this type of research helps provide insight into how biological factors can influence the way that people interact with one another. Their study builds upon previous research that found an association between prosocial behaviors and genes that help control a persons serotonin neurotransmitter system. They looked to find out whether or not anxiety was a component of the mechanism through which 5-HTTLPR impacts social behavior.

As part of the study, nearly 400 undergraduate students took part in a computerized survey designed to gauge both their anxiety levels and their proclivity towards prosocial behavior. Cheek swabs for genetic testing were also provided to Carlo, Stoltenberg and their colleagues.

Since their research further links prosocial behavior to genetically-caused anxiety, the investigators suggest that helping nervous men and women deal with their anxiety through counseling, medication, and other targeted efforts could also make them more likely to engage in prosocial behaviors, like volunteering for charitable organizations.

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Genetic Link Found Between Anxiety And Prosocial Behavior

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How to Save Coral Reefs from Climate Change: Genetic Manipulation

A UC San Francisco-led team of scientists has discovered that a gene mutation found in some bladder cancers is indicative of low-risk tumors that are unlikely to recur or progress after surgery.

The finding could help doctors spare many patients from uncomfortable, expensive follow-up tests.

David Solomon, MD, PhD

The study, reported online in the journal Nature Genetics on Oct. 13 offers a glimpse into the potential of precision medicine, which aims to use genetic information to make an accurate analysis of an individuals disease and target it with precise therapy.

The fifth most common malignancy in the U.S., bladder cancers claim about 15,000 lives each year.

A majority of bladder cancers known as papillary tumors can be successfully treated with surgery, but about 20 percent recur and invade the muscle wall of the bladder or spread to nearby organs andlymph nodes. Thus far, physicians have not had an accurate method to determine which papillary tumors are potentially lethal, so most patients undergo frequent endoscopic examinations of their bladder using a technique known as cystoscopy to look for signs of recurrence.

In 2011, while at Georgetown University School of Medicine, David A. Solomon, MD, PhD, his mentor Todd Waldman, MD, PhD, and colleagues published research in Science showing that mutations that deactivate a gene called STAG2 which regulates the separation of duplicate chromosomes during cell division are present in a range of human cancers.

In the top image, STAG2 is expressed in a robust and orderly fashion in normal

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Genetic Discovery Could Help Guide Doctors’ Treatment of Bladder Cancers

Oct. 16, 2013 Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments.

The research, published Oct. 17 in Nature, shows that some of the same genes commonly mutated in certain cancers also occur in seemingly unrelated tumors. For example, a gene mutated in 25 percent of leukemia cases in the study also was found in tumors of the breast, rectum, head and neck, kidney, lung, ovary and uterus.

Based on the findings, the researchers envision that a single test that surveys errors in a swath of cancer genes eventually could become part of the standard diagnostic workup for most cancers. Results of such testing could guide treatment decisions for patients based on the unique genetic signatures of their tumors.

New insights into cancer are possible because of advances in genome sequencing that enable scientists to analyze the DNA of cancer cells on a scale that is much faster and less expensive today than even a few years ago. While earlier genome studies typically have focused on individual tumor types, the current research is one of the first to look across many different types of cancer.

"This is just the beginning," said senior author Li Ding, PhD, of The Genome Institute at Washington University. "Many oncologists and scientists have wondered whether it's possible to come up with a complete list of cancer genes responsible for all human cancers. I think we're getting closer to that."

The new research analyzed the genes from 3,281 tumors -- a collection of cancers of the breast, uterus, head and neck, colon and rectum, bladder, kidney, ovary, lung, brain and blood. In addition to finding common links among genes in different cancers, the researchers also identified a number of mutations exclusive to particular cancer types.

Looking at a large number of tumors across many different cancers gives the researchers the statistical power they need to identify significantly mutated genes. These genetic errors occur frequently in some cancers and rarely in others but are nevertheless thought to be important to cancer growth. The research was conducted as part of The Cancer Genome Atlas Pan-Cancer effort, funded by the National Cancer Institute and the National Human Genome Research Institute, both at the National Institutes of Health (NIH).

While the average number of mutated genes in tumors varied among the cancer types, most tumors had only two to six mutations in genes that drive cancer. This may be one reason why cancer is so common, the researchers said. "While cells in the body continually accumulate new mutations over the years, it only takes a few mutations in key driver genes to transform a healthy cell into a cancer cell," noted Ding.

The scientists, which included co-first authors Cyriac Kandoth, PhD, and Michael McLellan, both at Washington University, along with collaborator Benjamin Raphael, PhD, from Brown University, were also able to identify genes that have a significant effect on survival.

TP53, an already well-known cancer gene, occurred most commonly across the different tumor types. It was found in 42 percent of samples and routinely was associated with a poor prognosis, particularly in kidney cancer, head and neck cancer and acute myeloid leukemia.

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Genetic errors identified in 12 major cancer types

NEW YORK, Oct. 16, 2013 /PRNewswire-iReach/ -- NEW YORK, NY (October 16, 2013) Reproductive Medicine Associates of New York (RMA of New York), a Manhattan-based infertility clinic, in conjunction with Celmatix Inc., a New York City-based biotech firm, announced today their significant research progress toward the identification of novel genetic markers that may aid in the understanding of unexplained female infertility. The findings from their study, "Whole Genome Sequencing for Female Infertility Biomarker Discovery," were presented in a poster session at the 2013 annual meeting of the American Society for Reproductive Medicine (ASRM), taking place October 12th through the 17th in Boston, Massachusetts.

"Given recent advances in fertility preservation technologies such as egg freezing, there is great value in discovering biomarkers to identify women who are at risk for infertility," said Alan Copperman, MD, a study co-author and founding partner of RMA of New York. "Ultimately, personalized genetic markers like those identified in this study will give physicians the ability to rapidly diagnose female infertility, streamline fertility treatments, and better and more efficiently help patients achieve reproductive success."

RMA of New York and Celmatix have partnered to discover genetic biomarkers that could be predictive of infertility and to make better use of the clinical data that is gathered through various trials and research. Focusing on the 'FertilomeTMDNA', the region of the human genome that Celmatix analyses have shown is most likely to encode a woman's fertility potential, the researchers identified potential biomarkers for idiopathic (unexplained) female infertility and premature decline in ovarian reserve and function.

"As additional areas of medicine move toward precise treatment recommendations based on a patient's unique genetic make up, we are excited to be partnered with Dr. Copperman and his colleagues at RMA of New York to make this dream a reality for women suffering from infertility," states Piraye Yurttas Beim, Ph.D., Founder and Chief Executive Officer of Celmatix. "To our knowledge, these are the first whole genome datasets that have been generated of women experiencing unexplained infertility and primary ovarian insufficiency."

More than seven million women in the United States are affected by infertility. Of these women, over 10 percent have infertility of indeterminate causes. Diagnostic assays based on genomic sequencing will assist physicians in the identification of previously unexplained causes of infertility and in the determination of viable candidates for egg donation, aiding individuals and couples in the family planning process.

The authors of the study were Piraye Yurttas Beim, Ph.D.; Tina Hu-Seliger, Ph.D.; Michael Elashoff, Ph.D.; Rebecca Chodroff, Ph.D.; Joseph Lee, B.A.; and Alan B. Copperman, M.D.

About Reproductive Medicine Associates of New York

Reproductive Medicine Associates of New York (RMA of New York) is widely recognized as a national and international leader in state-of-the-art reproductive medicine. Led by an integrated team of doctors and scientists with extensive reproductive endocrinology, fertility and urology experience and training, RMA of New York consistently reports IVF success rates to the Society for Assisted Reproductive Technology (SART) and the Center for Disease Control and Prevention (CDC) and is internationally recognized for achieving high success rates in the treatment of infertility. RMA of New York maximizes access to care by helping patients explore all insurance coverage and financing options available for treatment. RMA of New York is sensitive to the needs of the LGBT community, women choosing single or same-sex motherhood, as well as women interested in elective fertility preservation. Headquartered in midtown Manhattan, RMA of New York has patient care facilities in Garden City, White Plains, Brooklyn and Cornwall, NY. For more information, please visitwww.rmany.com.

About Celmatix Inc.

Founded in 2009, Celmatix is a New York City-based biotechnology company focused on helping women overcome infertility by identifying underlying genetic causes for the condition and developing tools and technologies to help optimize treatment outcomes. Celmatix has identified the regions of the human genome that are most likely to influence a woman's fertility potential and are now mining novel genetic biomarkers for different infertility disorders in these regions. Celmatix has also developed the first data analytic models that can predict the cumulative probability of success across the entire fertility treatment journey for a given couple. For more information, visit http://www.celmatix.com.

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Scientists at Washington University in St. Louis say it may someday be possible to perform a single test to screen for a wide range of cancer types.

Scientists led by Dr. Li Ding have analyzed the DNA of 3,281 tumors to find 127 repeatedly mutated genes that appear to drive the growth of a range of cancers.

Thanks to recent advances in genome sequencing that allow scientists to analyze DNA faster and more affordably than ever before, researchers at Washington University School of Medicine in St. Louis say they have found that many types of cancer are driven by the same genetic mutations.

The scientists have been able to analyze 3,281 tumors to find 127 genes that repeatedly mutate in such a way as to drive the development of tumors in the body.

Previous genome studies have tended to home in on specific tumor types, but the work out of St. Louis, which appears this week in the journal Nature, is among the first to look at a wide range of what are sometimes seemingly unrelated tumor types. In fact, the thousands of tumors they analyzed included 12 major cancers: of the breast, uterus, bladder, kidney, ovary, lung, brain, blood, head and neck, and colon and rectum.

"This is just the beginning," senior author Li Ding of the university's Genome Institute said in a school news release of her team's findings. "Many oncologists and scientists have wondered whether it's possible to come up with a complete list of cancer genes responsible for all human cancers. I think we're getting closer to that."

In fact, the researchers say they envision a future where it's possible to perform a single test to survey all 127 of these identified genetic errors as part of a standard diagnostic workup for most cancers. Such a test could, in turn, not only identify unique genetic signatures of tumors but open the door for highly personalized cancer treatments as well.

While the researchers found common links between genes in different cancers (for instance, one gene mutated in 25 percent of leukemia cases was also found in seven other tumor types), they also found mutations that are particular to one.

To add to the complexity, some of the 127 genetic errors occur frequently in certain cancers, while some appear rarely in others, but all are being considered an important part of the growth of the cancers. The researchers did find, however, that most tumors had only two to six genetic mutations. Ding said that because cells are constantly accumulating new mutations over time, the finding that only a couple of mutations are key to turning a healthy cell into a cancerous one could help explain why cancer is so common.

The DNA analysis also helped the researchers identify genes that correlate strongly with not only cancer types but actual prognosis. TP53, for instance, was found more than any other across the different tumor types -- in 42 percent of the samples -- and is particularly bad news in cancers of the kidney, head and neck, and acute myeloid leukemia. BAP1, too, was often linked with poor prognoses, especially in kidney and uterine cancers.

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DNA analysis uncovers genetic errors behind 12 major cancers

16 October 2013 Last updated at 09:34 ET

An 11.5m centre that will research personalised treatment for the chronically ill is to be established in Altnagelvin Hospital in Londonderry.

It is the first of its kind on the island of Ireland.

The centre, which will research heart disease, diabetes and cancer, was announced on Wednesday.

The facility will be a collaborative project between the University of Ulster and the Western Health and Social Care Trust.

Personalised medicine is an emerging practice, according to the University of Ulster, that examines genetic make-up along with clinical data.

Rapid growth in the prevalence of chronic disease, particularly in our elderly, has highlighted the need for a personalised approach to treatment

The aim of the research is to prevent, diagnose and treat disease at an individual patient level.

Professor Tony Bjourson, head of the new centre, said: "A personalised approach to patient care holds huge potential for developing new diagnostic and treatment pathways for human diseases.

"This is one of the most important concepts to emerge from the sequencing of the human genome and Northern Ireland is emerging as an important region within stratified medicine research."

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Personalised medicine centre set up

PART 2 - SOUR SECRET - DNA Genetics - Voyagers Coffeeshop - Amsterdam Weed Review
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Pigeon Genetics [04] Recessive Red
Autosomal recessive gene which will turn anyone of the three base colors (Click #39;Show more #39;) (seen in video 01) to a solid red all over. However other genes ...

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Pigeon Genetics [04] Recessive Red - Video

BGU Now Online - Dr. Dan Levy - Shraga Segal Department of Microbiology, Immunology and Genetics
BGU Now Online - Bringing the stories behind the people who make Ben-Gurion University of the Negev a world leader in research. Meet Dr. Dan Levy of the Shra...

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Clinical trial starts to restore vision loss using gene therapy
Sat, Oct 12: A medical team at the University of Alberta is pioneering a potentially life changing procedure that could improve or restore vision loss. Globa...

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Clinical trial starts to restore vision loss using gene therapy - Video

Oct. 16, 2013 Johns Hopkins scientists have developed new drugs that -- at least in a laboratory dish -- appear to halt the brain-destroying impact of a genetic mutation at work in some forms of two incurable diseases, amyotrophic lateral sclerosis (ALS) and dementia.

They made the finding by using neurons they created from stem cells known as induced pluripotent stem cells (iPS cells), which are derived from the skin of people with ALS who have a gene mutation that interferes with the process of making proteins needed for normal neuron function.

"Efforts to treat neurodegenerative diseases have the highest failure rate for all clinical trials," says Jeffrey D. Rothstein, M.D., Ph.D., a professor of neurology and neuroscience at the Johns Hopkins University School of Medicine and leader of the research described online in the journal Neuron. "But with this iPS technology, we think we can target an exact subset of patients with a specific mutation and succeed. It's individualized brain therapy, just the sort of thing that has been done in cancer, but not yet in neurology."

Scientists in 2011 discovered that more than 40 percent of patients with an inherited form of ALS and at least 10 percent of patients with the non-inherited sporadic form have a mutation in the C9ORF72 gene. The mutation also occurs very often in people with frontotemporal dementia, the second-most-common form of dementia after Alzheimer's disease. The same research appeared to explain why some people develop both ALS and the dementia simultaneously and that, in some families, one sibling might develop ALS while another might develop dementia.

In the C9ORF72 gene of a normal person, there are up to 30 repeats of a series of six DNA letters (GGGGCC); but in people with the genetic glitch, the string can be repeated thousands of times. Rothstein, who is also director of the Johns Hopkins Brain Science Institute and the Robert Packard Center for ALS Research, used his large bank of iPS cell lines from ALS patients to identify several with the C9ORF72 mutation, then experimented with them to figure out the mechanism by which the "repeats" were causing the brain cell death characteristic of ALS.

In a series of experiments, Rothstein says, they discovered that in iPS neurons with the mutation, the process of using the DNA blueprint to make RNA and then produce protein is disrupted. Normally, RNA-binding proteins facilitate the production of RNA. Instead, in the iPS neurons with the C9ORF72 mutation, the RNA made from the repeating GGGGCC strings was bunching up, gumming up the works by acting like flypaper and grabbing hold of the extremely important RNA binding proteins, including one known as ADARB2, needed for the proper production of many other cellular RNAs. Overall, the C9ORF72 mutation made the cell produce abnormal amounts of many other normal RNAs and made the cells very senstive to stress.

To counter this effect, the researchers developed a number of chemical compounds targeting the problem. This compound behaved like a coating that matches up to the GGGGCC repeats like velcro, keeping the flypaper-like repeats from attracting the bait, allowing the RNA-binding protein to properly do its job.

Rothstein says Isis Pharmaceuticals helped develop many of the studied compounds and, by working closely with the Johns Hopkins teams, could begin testing it in human ALS patients with the C9ORF72 mutation in the next several years. In collaboration with the National Institutes of Health, plans are already underway to begin to identify a group of patients with the C9ORF72 mutation for future research.

Rita Sattler, Ph.D., an assistant professor of neurology at Johns Hopkins and the co-investigator of the study, says without iPS technology, the team would have had a difficult time studying the C9ORF72 mutation. "Typically, researchers engineer rodents with mutations that mimic the human glitches they are trying to research and then study them," she says. "But the nature of the multiple repeats made that nearly impossible." The iPS cells did the job just as well or even better than an animal model, Sattler says, in part because the experiments could be done using human cells.

"An iPS cell line can be used effectively and rapidly to understand disease mechanisms and as a tool for therapy development," Rothstein adds. "Now we need to see if our findings translate into a valuable treatment for humans."

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'Individualized' therapy for the brain targets specific gene mutations causing dementia, ALS

Public release date: 16-Oct-2013 [ | E-mail | Share ]

Contact: Stephanie Desmon sdesmon1@jhmi.edu 410-955-8665 Johns Hopkins Medicine

Johns Hopkins scientists have developed new drugs that at least in a laboratory dish appear to halt the brain-destroying impact of a genetic mutation at work in some forms of two incurable diseases, amyotrophic lateral sclerosis (ALS) and dementia.

They made the finding by using neurons they created from stem cells known as induced pluripotent stem cells (iPS cells), which are derived from the skin of people with ALS who have a gene mutation that interferes with the process of making proteins needed for normal neuron function.

"Efforts to treat neurodegenerative diseases have the highest failure rate for all clinical trials," says Jeffrey D. Rothstein, M.D., Ph.D., a professor of neurology and neuroscience at the Johns Hopkins University School of Medicine and leader of the research described online in the journal Neuron. "But with this iPS technology, we think we can target an exact subset of patients with a specific mutation and succeed. It's individualized brain therapy, just the sort of thing that has been done in cancer, but not yet in neurology."

Scientists in 2011 discovered that more than 40 percent of patients with an inherited form of ALS and at least 10 percent of patients with the non-inherited sporadic form have a mutation in the C9ORF72 gene. The mutation also occurs very often in people with frontotemporal dementia, the second-most-common form of dementia after Alzheimer's disease. The same research appeared to explain why some people develop both ALS and the dementia simultaneously and that, in some families, one sibling might develop ALS while another might develop dementia.

In the C9ORF72 gene of a normal person, there are up to 30 repeats of a series of six DNA letters (GGGGCC); but in people with the genetic glitch, the string can be repeated thousands of times. Rothstein, who is also director of the Johns Hopkins Brain Science Institute and the Robert Packard Center for ALS Research, used his large bank of iPS cell lines from ALS patients to identify several with the C9ORF72 mutation, then experimented with them to figure out the mechanism by which the "repeats" were causing the brain cell death characteristic of ALS.

In a series of experiments, Rothstein says, they discovered that in iPS neurons with the mutation, the process of using the DNA blueprint to make RNA and then produce protein is disrupted. Normally, RNA-binding proteins facilitate the production of RNA. Instead, in the iPS neurons with the C9ORF72 mutation, the RNA made from the repeating GGGGCC strings was bunching up, gumming up the works by acting like flypaper and grabbing hold of the extremely important RNA binding proteins, including one known as ADARB2, needed for the proper production of many other cellular RNAs. Overall, the C9ORF72 mutation made the cell produce abnormal amounts of many other normal RNAs and made the cells very senstive to stress.

To counter this effect, the researchers developed a number of chemical compounds targeting the problem. This compound behaved like a coating that matches up to the GGGGCC repeats like velcro, keeping the flypaper-like repeats from attracting the bait, allowing the RNA-binding protein to properly do its job.

Rothstein says Isis Pharmaceuticals helped develop many of the studied compounds and, by working closely with the Johns Hopkins teams, could begin testing it in human ALS patients with the C9ORF72 mutation in the next several years. In collaboration with the National Institutes of Health, plans are already underway to begin to identify a group of patients with the C9ORF72 mutation for future research.

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'Individualized' therapy for the brain targets specific gene mutations causing dementia and ALS

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Altogen Labs Provides Biology CRO Contract Research Services to Accelerate Preclinical and Oncology Research Studies

Kathryn Coldren

Joe Peters, associate professor of microbiology, is a founding member of the R3 group, which was started 10 years ago as a forum to discuss mutual interests among an interdisciplinary group of scientists.

Once a month, every month, for the past 10 years, an assortment of scientists from all corners of the university have been coming together to collaborate around one topic central to all their research: DNA replication, recombination and repair.

The R3 Group has representatives from 10 core labs among its regular members, in the Departments of Biomedical Sciences, Chemistry and Chemical Biology, Plant Breeding and Genetics, Microbiology, and Molecular Biology and Genetics. Some work with bacteria, others with plants or animals, but all of the scientists explore the processes that help control genetic stability.

The group has welcomed more than 80 speakers to its monthly meetings, and it recently hosted three prominent guests Tony Huang of New York University, Anne Villeneuve of Stanford University and Graham Walker of the Massachusetts Institute of Technology as part of a 10th anniversary celebration Oct. 3-4.

More than 200 people from Cornell and other institutions gathered in the Biotechnology Building and Weill Hall to hear about a range of research into the fundamental science of how all organisms deal with the enormous task of replicating and segregating their genomes with minimal errors.

This basic science is critical in understanding the genetic basis of diseases, primarily birth defects and cancer, said John Schimenti, director of the Center for Vertebrate Genomics at the College of Veterinary Medicine, one of the organizers of the conference.

By studying DNA replication and cellular responses to carcinogen damage, Walker has gained insights into an emerging issue in cancer treatment: chemotherapy resistance. During his keynote address, the MIT biology professor explained how his discoveries about translesion polymerases could be used to combat this resistance and improve treatment. He also shared his research into replication processes related to stress responses and oxygen use in bacteria, which could have an impact on our use of other medicines, such as antibiotics and antimicrobials.

Walkers presentation provided great examples of how research can move from simple-model systems like bacteria and yeast into more complex animal and human systems, said Joe Peters, a founding member of the R3 group.

The associate professor of microbiology is the one to whom members turn with questions about basic bacterial systems; he, in turn, is often inspired by their approaches.

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Gene scientists celebrate 10 years of collaboration

Oct. 15, 2013 Scientists at the University of Washington have used genetic engineering to identify a population of neurons that tell the brain to shut off appetite. Their study, "Genetic identification of a neural circuit that suppresses appetite," was published Oct. 13 in Nature.

To identify these neurons, or cells that process and transmit information in the brain, researchers first considered what makes an animal lose its appetite. There are a number of natural reasons, including infection, nausea, pain or simply having eaten too much already.

Nerves within the gut that are distressed or insulted send information to the brain through the vagus nerve. Appetite is suppressed when these messages activate specific neurons -- ones that contain CGRP, (calcitonin gene-related peptide) in a region of the brain called the parabrachial nucleus.

In mouse trials, researchers used genetic techniques and viruses to introduce light-activatable proteins into CGRP neurons. Activation of these proteins excites the cells to transmit chemical signals to other regions of the brain. When they activated the CGRP neurons with a laser, the hungry mice immediately lost their appetite and walked away from their liquid diet (Ensure); when the laser was turned off, the mice resumed drinking the liquid diet.

"These results demonstrate that activation of the CGRP-expressing neurons regulates appetite. This is a nice example of how the brain responds to unfavorable conditions in the body, such as nausea caused by food poisoning" said Richard Palmiter, UW professor of biochemistry and investigator of the Howard Hughes Medical Institute.

Using a similar approach, neurons in other brain regions have been identified that can stimulate the appetite of mice that are not hungry. Researchers hope to identify the complete neural circuit (wiring diagram) in the brain that regulates feeding behavior. By identifying these neural circuits, scientists may be able to design therapies that promote or decrease appetite.

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Genetic identification of neural circuit that suppresses appetite

New GE techniques slipping under the radar?

A new gene-splitting technique must be defined as genetic engineering, says the Soil & Health Association. If not, more new techniques like it may be used in crops, food and other products without our knowledge, and with unknown consequences. Zinc finger nuclease involves splitting DNA strands so that genetic material may be inserted or removed.

There is a raft of new technologies being developed that are the next wave of genetic engineering, says Marion Thomson, co-chair of Soil & Health Organic NZ. These new technologies must be thoroughly and independently scrutinised and the precautionary principle applied. Otherwise, its an uncontrolled experiment that could have adverse effects for people, animals and the environment.

The Soil & Health Association commends the Sustainability Council for challenging a decision by the Environmental Protection Authority (EPA) that zinc finger nuclease is not genetic engineering. The EPA committee that made the decision went against staff advice. The case will now be heard in the High Court in Wellington in November.

ends

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New GE techniques slipping under the radar?

Newswise BIRMINGHAM, Ala. The University of Alabama at Birmingham (UAB) today announced that Illumina Inc. has licensed the rights to a DNA sequencing technology developed by a UAB microbiologist and a University of Washington physicist.

The patent-licensing deal revolves around nanopores first studied as potential chinks in the armor of the tuberculosis bacteria, but now part of efforts to make sequencing even faster and cheaper.

Sequencing reveals genetic variations, which partly determine each persons risk for many diseases as well as which drugs will work for him or her. Cancer centers are already sequencing tumors in search of variations that make some resistant to chemotherapy. Global sequencing studies seek to find the genetic contributors to conditions such as autism and diabetes.

Widespread access to genetic information will improve medical care worldwide; but in order to become part of daily, personalized medicine, DNA sequencing methods will need to become faster and cheaper, said Michael Niederweis, Ph.D., a microbiology professor in the UAB School of Medicine and one of two researchers who developed the technology. Our nanopore technology promises to achieve that, and we believe Illumina can transform our experimental system into a pioneering commercial technology.

While the terms of the deal are confidential, the license gives Illumina exclusive worldwide rights to develop and market the nanopore DNA sequencing technology developed by Jens Gundlach, Ph.D., a professor of physics at the University of Washington (UW), Niederweis and their teams. The technology is protected by pending patent applications co-owned by the UAB Research Foundation and UW.

Many companies and universities are looking at the potential of nanopore technology, but the technology developed by Drs. Niederweis and Gundlach is among the most promising, said Christian Henry, senior vice president and general manager of Illuminas Genomics Solutions business.

Path to a simpler sequencing technology In every human cell, the blueprint for the body is encoded in chains of molecules called deoxyribonucleic acids or DNA. DNA chains are, in turn, composed of nucleotides, each of which includes one of four bases adenine, thymine, guanine or cytosine. These bases serve as the letters making up the genetic code, and sequencing methods determine their precise order.

It took The Human Genome Project 10 years and cost $3 billion to sequence the first complete set of genetic information, or genome, for one human, with the results announced in 2003. That same feat today takes a couple of days and costs about $4,000. Dramatic improvements in template preparation, sequencing strategies and image processing made this astounding leap possible in recent years, but DNA sequencing has yet to cross the threshold that will make it part of everyday medicine: to decode a patients genome within hours for less than a thousand dollars.

Many labs are looking for ways to replace the current processes with simpler, cheaper ones. One such approach is nanopore sequencing, which employs a pore just large enough for a DNA strand to slip through.

As the molecule passes through the pore, it partially blocks an electrical current. This enables each of the four DNA bases to generate a unique electrical signal and allows the system to identify the sequence. Bacteria evolved to have such pores in their outer membranes because they efficiently let in nearby nutrients sugars, phosphates and amino acids that happen to be about the same size as a single DNA nucleotide.

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Licensing Deal Marks Coming of Age for UAB-UW Nanopore Sequencing Technology