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Ethics: Taboo genetics

OLIVER MUNDAY

Growing up in the college town of Ames, Iowa, during the 1970s, Stephen Hsu was surrounded by the precocious sons and daughters of professors. Around 2010, after years of work as a theoretical physicist at the University of Oregon in Eugene, Hsu thought that DNA-sequencing technology might finally have advanced enough to help to explain what made those kids so smart. He was hardly the first to consider the genetics of intelligence, but with the help of the Chinese sequencing powerhouse BGI in Shenzhen, he planned one of the largest studies of its kind, aiming to sequence DNA from 2,000 people, most of whom had IQs of more than 150.

He hadn't really considered how negative the public reaction might be until one of the study's participants, New York University psychologist Geoffrey Miller, made some inflammatory remarks to the press. Miller predicted that once the project turned up intelligence genes, the Chinese might begin testing embryos to find the most desirable ones. One article painted the venture as a state-endorsed experiment, selecting for genius kids, and Hsu and his colleagues soon found that their project, which had barely begun, was the target of fierce criticism.

There were scientific qualms over the value of Hsu's work (see Nature 497, 297299; 2013). As with other controversial fields of behavioural genetics, the influence of heredity on intelligence probably acts through myriad genes that each exert only a tiny effect, and these are difficult to find in small studies. But that was only part of the reason for the outrage. For decades, scientists have trodden carefully in certain areas of genetic study for social or political reasons.

At the root of this caution is the widespread but antiquated idea that genetics is destiny that someone's genes can accurately predict complex behaviours and traits regardless of their environment. The public and many scientists have continued to misinterpret modern findings on the basis of this fearing that the work will lead to a new age of eugenics, preemptive imprisonment and discrimination against already marginalized groups.

People can take science and assume it is far more determinative than it is and, by making that assumption, make choices that we will come to regret as a society, says Nita Farahany, a philosopher and lawyer at Duke University School of Law in Durham, North Carolina.

But trying to forestall such poor choices by drawing red lines around certain areas subverts science, says Christopher Chabris of Union College in Schenectady, New York. Funding for research in some areas dries up and researchers are dissuaded from entering promising fields. Any time there's a taboo or norm against studying something for anything other than good scientific reasons, it distorts researchers' priorities and can harm the understanding of related topics, he says. It's not just that we've ripped this page out of the book of science; it causes mistakes and distortions to appear in other areas as well.

Here, Nature looks at four controversial areas of behavioural genetics to find out why each field has been a flashpoint, and whether there are sound scientific reasons for pursuing such studies.

Taboo level: HIGH

The comments that Miller made about Chinese families and the government wanting to select for intelligent babies touched a nerve still raw after many years. In the nineteenth century, British anthropologist Francis Galton founded the eugenics movement on the premise that extraordinary abilities, as well as deficits, were inherited. The movement led to abuses, such as forced sterilization of people deemed mentally inferior generally minorities, poor people and especially people with mental illnesses in countries around the world, including Germany, the United States, Belgium, Canada and Sweden.

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Response Genetics, Inc. Announces Payor Contract With Fortified Provider Network

LOS ANGELES, Oct. 2, 2013 (GLOBE NEWSWIRE) -- Response Genetics, Inc. (RGDX), a company focused on the development and sale of molecular diagnostic tests that help determine a patient's response to cancer therapy, today announced that it has executed an agreement with Fortified Provider Network, Inc. and will join its network of preferred providers. This latest agreement marks Response's seventh health care payor agreement this year and brings its access to over 97 million people nationally.

With the execution of this agreement, approximately 4.1 million members associated with over 200 health insurers, self-funded employers and other payors of health care services will be able to access Response Genetics' suite of molecular predictive testing at a discounted rate. Response Genetics' predictive genomic testing is targeted to patients battling lung, colon, gastric, and melanoma cancers. The results from Response Genetics' testing services give treating physicians actionable information that enable the best therapy to be employed on that specific patient's tumor. The precise nature of Response Genetics' services brings with them a value proposition that is expected to improve patient outcomes and enhance efficiencies in health care delivery.

About Response Genetics, Inc.

Response Genetics, Inc. (the "Company") is a CLIA-certified clinical laboratory focused on the development and sale of molecular diagnostic testing services for cancer. The Company's technologies enable extraction and analysis of genetic information derived from tumor cells stored as formalin-fixed and paraffin-embedded specimens. The Company's principal customers include oncologists and pathologists. In addition to diagnostic testing services, the Company generates revenue from the sale of its proprietary analytical pharmacogenomic testing services of clinical trial specimens to the pharmaceutical industry. The Company's headquarters is located in Los Angeles, California. For more information, please visit http://www.responsegenetics.com.

About Fortified Provider Network

Based in Scottsdale, Arizona, Fortified Provider Network (FPN) was founded in 1997 for the purpose of creating an all-direct-contracted network of preferred providers for its group health clients. Given FPN's superior results in the group health arena, FPN expanded over the years to offer workers' compensation and auto liability networks. FPN offers the utilization of its network to its payor clients and members who, in turn, are able to capitalize on the discounted fee schedules FPN has negotiated with its healthcare providers.

Forward-Looking Statement Notice

Except for the historical information contained herein, this press release and the statements of representatives of the Company related thereto contain or may contain, among other things, certain forward-looking statements, within the meaning of the Private Securities Litigation Reform Act of 1995.

Such forward-looking statements involve significant risks and uncertainties. Such statements may include, without limitation, statements with respect to the Company's plans, objectives, projections, expectations and intentions, such as the ability of the Company, to provide clinical testing services to the medical community, to continue to strengthen and expand its sales force, to continue to build its digital pathology initiative, to attract and retain qualified management, to continue to strengthen marketing capabilities, to expand the suite of ResponseDX(R) products, to continue to provide clinical trial support to pharmaceutical clients, to enter into new collaborations with pharmaceutical clients, to enter into areas of companion diagnostics, to continue to execute on its business strategy and operations, to continue to analyze cancer samples and the potential for using the results of this research to develop diagnostic tests for cancer, the usefulness of genetic information to tailor treatment to patients, and other statements identified by words such as "project," "may," "could," "would," "should," "believe," "expect," "anticipate," "estimate," "intend," "plan" or similar expressions.

These statements are based upon the current beliefs and expectations of the Company's management and are subject to significant risks and uncertainties, including those detailed in the Company's filings with the Securities and Exchange Commission. Actual results, including, without limitation, actual sales results, if any, or the application of funds, may differ from those set forth in the forward-looking statements. These forward-looking statements involve certain risks and uncertainties that are subject to change based on various factors (many of which are beyond the Company's control). The Company undertakes no obligation to publicly update forward-looking statements, whether because of new information, future events or otherwise, except as required by law.

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Seattle Genetics Announces Clinical Leadership Appointments

BOTHELL, Wash.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) today announced that Jonathan Drachman, M.D., has been promoted to Chief Medical Officer and Executive Vice President, Research and Development. Dr. Drachman joined Seattle Genetics in November 2004, serving most recently as Senior Vice President, Research and Translational Medicine. In this new role, he will lead the companys clinical development and regulatory affairs teams, in addition to his continued oversight of research and translational medicine. The company also announced that it has promoted Eric Sievers, M.D., to Senior Vice President, Clinical Development. Dr. Sievers will be responsible for clinical development and life cycle management activities for ADCETRIS (brentuximab vedotin), and many of the companys clinical development programs.

Jonathan has been a vital member of the management team for several years, demonstrating his passion for patients and a creative, science-based approach to research and drug development, said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. This promotion allows him to bring his vision and leadership to a broader scope of activities, including our ADCETRIS clinical development program as well as our robust clinical and preclinical antibody-drug conjugate (ADC) pipeline.

Prior to joining Seattle Genetics, Dr. Drachman was Associate Professor in the Hematology Division, Department of Medicine at the University of Washington in Seattle, where he remains a Clinical Associate Professor of Medicine. He also served as Senior Investigator in the Division of Research and Education and Medical Director of the Umbilical Cord Blood Program at the Puget Sound Blood Center. Dr. Drachman received a B.A. in Biochemistry from Harvard University and an M.D. from Harvard Medical School. He completed his residency in Internal Medicine and fellowship in Medical Oncology at the University of Washington.

Eric Sievers joined Seattle Genetics in July 2006, and has focused primarily on directing, planning and executing clinical development activities for ADCETRIS. Previously, Dr. Sievers served as Medical Director at Zymogenetics (acquired by Bristol-Myers Squibb in 2010). His academic research focused on improving treatment outcomes for patients with acute myeloid leukemia, including clinical development of an anti-CD33 ADC. Dr. Sievers performed his training in pediatric hematology and oncology at the University of Washington and the Fred Hutchinson Cancer Research Center, and served on the faculty of both institutions for more than a decade. Dr. Sievers received both a B.A. in Biology and an M.D. from Brown University.

For the past seven years at Seattle Genetics, Eric has shown his tremendous commitment to bringing innovative new drugs to patients in need, particularly through his leadership of the ADCETRIS clinical development program, added Dr. Siegall. As SVP, Clinical Development, Erics medical expertise will continue to be instrumental in the development of ADCETRIS and our other pipeline programs.

About Seattle Genetics

Seattle Genetics is a biotechnology company focused on the development and commercialization of monoclonal antibody-based therapies for the treatment of cancer. The companys lead program, ADCETRIS (brentuximab vedotin), received accelerated approval from the U.S. Food and Drug Administration in August 2011 and approval with conditions from Health Canada in February 2013 for two indications. In addition, under a collaboration with Millennium: The Takeda Oncology Company, ADCETRIS received conditional approval from the European Commission in October 2012. Seattle Genetics is also advancing a robust pipeline of clinical-stage ADC programs: SGN-75, ASG-22ME, SGN-CD19A, SGN-CD33A, ASG-15ME and SGN-LIV1A. Seattle Genetics has collaborations for its ADC technology with a number of leading biotechnology and pharmaceutical companies, including AbbVie, Agensys (an affiliate of Astellas), Bayer, Celldex, Daiichi Sankyo, Genentech, GlaxoSmithKline, Millennium, Pfizer and Progenics, as well as ADC co-development agreements with Agensys and Genmab. More information can be found at http://www.seattlegenetics.com.

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Gene scans solving mystery diseases

They were mystery diseases that had stumped doctors for years adults with strange symptoms and children with neurological problems, mental slowness or muscles too weak to let them stand. Now scientists say they were able to crack a quarter of these cases by decoding the patients genes.

Their study is the first large-scale effort to move gene sequencing out of the lab and into ordinary medical care, and it shows that high hopes for this technology are finally paying off.

This is a direct benefit of the Human Genome Project, the big effort to decode our DNA, said Dr. Christine M. Eng of Baylor College of Medicine in Houston. Were now able to directly benefit patients through more accurate diagnosis.

She led the study, which was published online Wednesday by the New England Journal of Medicine. It gives results on the first 250 patients referred to Baylor for a newer type of sequencing just the DNA segments that hold the recipes for all the proteins the body needs. Thats only about 1 percent of the whole genome.

Baylor has sequenced more patients beyond those in the study 1,700 so far and found gene flaws in 1 out of 4, Eng said.

Researchers at Baylor College of Medicine prepare reagents for the DNA sequencing of patient samples.

That rate will improve as more genes are linked to diseases, but its already much higher than the less comprehensive gene tests done now, said Rebecca Nagy, a scientist at Ohio State University and president of the National Society of Genetic Counselors.

For some of these conditions there could be treatments that are lifesaving, she said.

Already, three people tested at Baylor were found to have a muscle disorder that can cause respiratory problems and even death. The condition is aggravated by infections and stress, and there are drugs to treat those and prevent serious episodes, Eng said.

In other cases, having a diagnosis helped parents like Lindsey and Brandon Collier decide whether to have more children. The Colliers, who live in Georgetown, Texas, about 30 miles north of Austin, searched for years for an answer to what was plaguing their son, Cannon, now 4.

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New growth opportunities in regenerative medicine – Video


New growth opportunities in regenerative medicine
http://advisory.com Technology Insights #39; Director Joseph McCaffrey examines the future of regenerative medicine and discusses its potential impact on major c...

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Research and Markets: Global Cell Therapy Pipeline Analysis Report 2013

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/qbr6kf/global_cell) has announced the addition of the "Global Cell Therapy Pipeline Analysis" report to their offering.

"Global Cell Therapy Pipeline Analysis" gives a comprehensive insight on the various drugs being developed for the treatment of multiple disease based upon Cell Therapy. Research report covers all the ongoing drug development in various development phases. Each drug profiles include detailed information like: Originator, Owner, Collaborator, Technology Provider, Licensee, Development Phase, Development Indications, Mechanism of Action, Country of Development and detailed analysis on the development process.

Insight for each drug profile in development phase enables the reader to identify and understand the Cell Therapy associated with the various diseases.

This report enables pharmaceutical companies, collaborators and other associated stake holders to identify and analyze the available investment opportunity in the Cell Therapy based drug development process.

Following parameters for each drug profile in development phase are covered in Global Cell Therapy Pipeline Analysis research report:

- Drug Profile Overview

- Alternate Names for Drug

- Active Indication

- Phase of Development

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Search tool for gene expression databases could uncover therapeutic targets, biological processes

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A new computational tool developed by U.S. and Israeli scientists will help scientists exploit the massive databases of gene expression experimental results that have been created over the past decade. Researchers say it could uncover new links between diseases and treatments and provide new insights into biological processes.

The team, headed by Ziv Bar-Joseph of Carnegie Mellon University, reports in the October issue of the journal Nature Methods that the tool, called ExpressionBlast, enables searches based directly on experimental values, rather than keywords.

The researchers already have used ExpressionBlast to uncover intriguing clues about SIRT6, the first gene shown to extend lifespan in mice and thus a potentially important drug target. By mining experimental data stored in a public repository called the Gene Expression Omnibus (GEO) maintained by the National Center for Biotechnology Information, they found that SIRT6 may be involved with functions that include immune response, metabolism and the regulation of gender-specific genes.

"Because so little is known about SIRT6, it would be difficult to search the hundreds of thousands of GEO datasets using keywords and, without other guidance, it would be practically impossible to find other experiments with gene expression patterns similar to SIRT6," said Bar-Joseph, an associate professor of computational biology and machine learning. "ExpressionBlast enabled us to take SIRT6 gene expression data from just two mouse experiments and find other experimental data in GEO with similar expression patterns."

The tool is available online, http://www.expression.cs.cmu.edu/. The search engine enables researchers to search for expression patterns that are similar or opposite to their own results and can search within and across species. Guy Zinman, Shoshana Naiman, Yariv Kanfi and Haim Cohen of Bar-Ilan University worked with Bar-Joseph to develop ExpressionBlast and are co-authors of the journal report. Their intention was to develop a tool for gene expression queries that would be the equivalent of Blast, a two-decade-old tool for searching gene sequence databases that remains one of the most widely used tools in bioinformatics.

Genes encode the information necessary for life, while gene expression is the process by which that genetic information is transformed into proteins and by which genes are regulated. Understanding gene expression thus is critical for understanding biological and disease processes. This information is so important that, for the past decade or so, most leading journals have required researchers who publish papers on gene expression to submit their experimental data to public repositories such as GEO.

GEO alone holds data from more than 1 million microarrays. Each of these microarrays might contain up to 40,000 numerical values which indicate which genes are over- or underexpressed, and by how much. GEO and the European Bioinformatics Institute's ArrayExpress thus represent a treasure trove of potential discoveries. But existing searches are often dependent on keyword summaries submitted by each researcher, or require manual comparisons of microarrays.

ExpressionBlast uses novel, automated and scalable text analysis algorithms to transform the unstructured data in GEO so that it can be systematically searched. The researchers have thus far processed tens of thousands of expression series representing hundreds of thousands of individual arrays across several species. Once processed in this way, the data can be accessed easily via a graphical interface. This work was supported by a grant from the National Institutes of Health and a National Science Foundation Innovation Corps (I-Corps) award.

Explore further: Novel approach to gene regulation can activate multiple genes simultaneously

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New genetic discovery could reduce the guesswork in drug dosing

Public release date: 1-Oct-2013 [ | E-mail | Share ]

Contact: Wolfgang Sadee wolfgang.sadee@osumc.edu 614-292-1597 Ohio State University

COLUMBUS, Ohio The discovery of genetic differences affecting up to a third of the population could take the guesswork out of prescribing the correct dose of 25 percent of drugs currently on the market, researchers say.

The scientists found two genetic variants that alter the activity level of an enzyme responsible for processing, or metabolizing, drugs ranging from the painkiller codeine to the breast cancer drug tamoxifen.

The Ohio State University researchers who found these differences say that pending additional research, the variants are good candidates for inclusion in an existing biomarker test that guides drug dosing.

The current test is designed to determine the enzyme's activity level, or expression, to predict whether a patient will fall into one of four categories: poor, intermediate, extensive or ultra-rapid metabolizer. Metabolism speed affects how much medicine a patient needs.

But there are limits to the existing test: The current biomarker panel is based on variants that have been associated with how patients respond to different doses of drugs.

The researchers who found these previously unidentified variants, however, have determined the specific effects that the variants have on drug metabolism. One reduces the enzyme's activity twofold by turning off a function of its gene, and the other is located in an enhancer region of the gene, meaning it increases the enzyme's expression between two- and fourfold.

"If you don't consider these two variants, the current biomarker panel can cause incorrect dosing," said senior author Wolfgang Sadee, professor and chair of pharmacology and director of the Center for Pharmacogenomics at Ohio State. "The better the test, the more value it has. Adding these variants to the panel would make the test more predictive and robust with respect to application in the clinic."

Ohio State has applied for a patent on the addition of these variants to a clinical biomarker test.

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5 Ways Medicine Is Getting Personal

Genomics is the study of the human genome, genetic mapping and DNA sequencing. Sounds like the stuff of science fiction, or maybe a really boring party conversation, but either way, genomics is something you should care about. It's a science that's rapidly revolutionizing medical care.

Here are five ways genomics is changing the future of medicine and why it should be important to you.

Medicine Gets Personal Tweet Chat Today at 1 p.m., ET

The human genome is stunning for its sheer complexity. Each of us has 23 chromosomes for a total of about 3 billion DNA base pairs. You inherit a chromosome from each of your parents, so double that to 6 billion.

Between 3 million and 5 million of your base pairs differ from those of the person sitting next to you, said Dr. Eric Green, the director of the National Human Genome Research Institute. These genetic variations represent only a small corner of the human genome but reveal a lot of information about your health, both now and in the future, he said.

Technology has made genetic sequencing a relatively cheap and speedy process. The Human Genome Project, which was the first successful attempt to sequence the full human genome, cost more than a billion dollars and took more than a decade to complete. Now for less than $5,000, a full gene sequence can be decoded in five days or less, Green said. By the end of the year, he expects advances in technology will allow scientists to sequence an entire gene in less than 24 hours.

Genomics is already used in clinical settings to help diagnose and treat diseases from cradle to grave. In children, it helps diagnose developmental delays, intellectual disabilities, autism spectrum disorder and birth defects, to name a few. Early and accurate diagnosis allows physicians to target medical care and provide families with important information about genetic risks for siblings.

In adults, genomics help fight cancer. Angelina Jolie highlighted this fact when she tested positive for a BRCA gene mutation that is strongly associated with a risk of developing breast cancer. After factoring this information in with a strong family history of breast cancer, the actress chose to undergo a pre-emptive double mastectomy.

For those who already have cancer, Green said that it was now possible to sequence the genome of a tumor, identify the genetic variants that are the likely cause of the disease and personalize treatment.

We all respond differently to medications. Sometimes they work well, sometimes they don't work at all and sometimes they make one sicker. Green said that how a person metabolizes a drug is determined by genetic factors. Physicians can use this information to design highly individual drug regimens.

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20yro Natural Bodybuilding Transformation Gym Posing NEW Polska Genetics Transform – Video


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Myriad Genetics and BioMarin Advance PARP Collaboration Into Phase 3

SALT LAKE CITY, Oct. 1, 2013 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced that BioMarin Pharmaceutical Inc. will use Myriad's BRACAnalysis(R) test in connection with its pivotal Phase 3 clinical studies for BMN 673. BMN 673 is a novel, orally-active PARP inhibitor designed to induce synthetic lethality in BRCA-deficient cells.

Myriad will collaborate with BioMarin to deliver BRAC testing for its pivotal clinical studies. As required by the U.S. Food and Drug Administration, Myriad also submitted an Investigational Device Exemption (IDE) to the FDA that will allow for BRACAnalysis testing to be used as a companion diagnostic to stratify patients in the BMN 673 clinical program. Additional terms of the deal were not disclosed.

"Companion diagnostics are a major focus of our business and are increasingly being integrated into drug development programs," said Mark C. Capone, president of Myriad Genetics Laboratories. "BRACAnalysis has shown promise as a companion diagnostic, and we are actively collaborating with BioMarin to identify responders and non-responders to therapy with BioMarin's novel PARP inhibitor."

"Through our experience working with the Myriad BRACAnalysis test in our Phase 1 trial for BMN 673 in solid tumors, we appreciate the investment that Myriad has made in developing this assay and understanding its use," said Len Post, vice president, Chief Scientific Officer Drug Discovery at BioMarin. "Identifying the right patients to enroll in our Phase 3 study for BMN 673 in BRCA breast cancer will be critical in answering important scientific questions about the safety and efficacy of the compound in this select population."

About BRACAnalysis(R) Companion Diagnostics

BRACAnalysis is the gold standard molecular diagnostic test to confirm the presence of a BRCA1 or BRCA 2 gene mutation. Previously published scientific data have shown that patients with BRCA-mutated cancers may receive clinical benefit from treatment with investigational PARP inhibitors. Myriad Genetics has been developing BRACAnalysis as a companion diagnostic for several years. The Company currently has six active collaborations with pharmaceutical companies to develop a BRACAnalysis as a companion diagnostic for investigational PARP inhibitors. In August, the FDA accepted the first Investigational Device Exemption (IDE) for BRACAnalysis, enabling clinical studies to include BRACAnalysis testing as a companion diagnostic. For more information, visit http://www.myriad.com.

About Myriad Genetics

Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients' lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BRACAnalysis, myRisk are trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and foreign countries. MYGN-F, MYGN-G

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Richard Morgan, Ph.D. Joins bluebird bio as Vice President of Immunotherapy

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

bluebird bio, Inc. (BLUE), a clinical-stage company committed to developing potentially transformative gene therapies for severe genetic and orphan diseases, today announced that Dr. Rick Morgan is joining the company as vice president of Immunotherapy.

Dr. Morgan joins the company from National Cancer Institute (NCI) at the National Institutes of Health where he was a Staff Scientist, working on genetically modified T-lymphocytes. He is also an associate investigator on all NCI Surgery Branch Clinical Gene Therapy Protocols. Previously Dr. Morgan was Interim Chief at the Clinical Gene Therapy Branch of the National Human Genome Research Institute.

We are excited that Richard is joining bluebird bio, stated Mitchell Finer, PhD, bluebird bios Chief Scientific Officer. This is an exciting time for the company as we expand our immunotherapy program. Richard has established himself as a leader in immunotherapy and gene therapy and will be key to advancing our CAR-T efforts and more broadly our T-cell platform.

Dr. Morgan was a member of the team that preformed the worlds first human gene therapy experiments in 1990 and in 2006 he was the first to report that genetically engineered T cells can cause cancer regression in humans. In his 30 years career, Dr. Morgan has received multiple awards, most recently the Technology Transfer Award from the National Cancer Institute in 2012 and the NCI Directors Intramural Innovation Award in 2010. He is a member of the American Association for the Advancement of Science, The Johns Hopkins Medical and Surgical Association, American Society for Gene and Cell Therapy and Society for Immunotherapy of Cancer. Dr. Morgan is an author of more than 190 scientific publications including papers with Nobel laureates EJ Corey, Harold Varmus, and Andrew Fire. Dr. Morgan holds a Bachelor of Arts in Biochemistry from Brandeis University and a Doctor of Philosophy in Genetics from The Johns Hopkins University.

This is a revolutionary time in the fields of immunotherapy and gene therapy, stated Dr. Morgan. bluebird bio has established a leading group of researchers in the field of CAR-T, a novel approach to treating cancers and potentially, a wide range of immune mediated diseases. I look forward to working with the team to advance these treatments towards the clinic.

About bluebird bio, Inc.

bluebird bio is a clinical-stage company committed to developing potentially transformative gene therapies for severe genetic and orphan diseases. bluebird bio has two clinical-stage programs in development. The most advanced product candidate, Lenti-D, recently initiated a phase 2/3 study for the treatment of childhood cerebral adrenoleukodystrophy (CCALD), a rare, hereditary neurological disorder affecting young boys. The next most advanced product candidate, LentiGlobin, is currently in a phase 1/2 study in France for the treatment of beta-thalassemia major and severe sickle cell disease. A second phase 1/2 study with LentiGlobin in the United States has been initiated for the treatment of beta-thalassemia major.

bluebird bio also has an early-stage chimeric antigen receptor-modified T cell (CAR-T) program for oncology in partnership with Celgene Corporation.

bluebird bio has operations in Cambridge, Massachusetts and Paris, France. For more information, please visit http://www.bluebirdbio.com.

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OncoSec Medical to Present at the Cancer Vaccines and Gene Therapy Meeting

SAN DIEGO--(BUSINESS WIRE)--

OncoSec Medical Inc. (ONCS), a company developing its advanced-stage ImmunoPulse DNA-based immunotherapy and NeoPulse therapy to treat solid tumors, has announced it will be presenting at the Cancer Vaccines and Gene Therapy Meeting at The Desmond Malvern Hotel in Philadelphia, Pennsylvania.

Dr. Richard Heller, Professor at Old Dominion University, will be presenting pre-clinical data on the use of electroporation to deliver plasmid IL-12 in solid tumors in a presentation titled Gene Electrotransfer as an Effective Delivery Tool. This presentation will take place on Thursday, October 3 at 3:30 p.m. EST.

Dr. Adil Daud, principal investigator and co-director of melanoma research at the University of California San Francisco School of Medicine, will be presenting an update to OncoSecs Phase II melanoma immune response data, which will include IL-12 expression findings in a presentation titled Gene Electrotransfer in Solid Tumors. This presentation will take place on Friday, October 4 at 1:00 p.m. EST.

About the Cancer Vaccines and Gene Therapy Meeting

The Cancer Vaccines and Gene Therapy Meeting will bring together important leaders to present and discuss the latest approaches and technologies used to develop promising anti-cancer therapeutics.

About OncoSec Medical Inc.

OncoSec Medical Inc. isa biopharmaceutical companydeveloping its advanced-stage ImmunoPulse DNA-based immunotherapy and NeoPulse therapy to treat solid tumors.ImmunoPulse and NeoPulse therapiesaddress an unmet medical needandrepresenta potential solution for less invasive and less expensive therapies that are able to minimize detrimental effects resulting from currently available cancer treatments such as surgery, systemic chemotherapy or immunotherapy, and other treatment alternatives. OncoSec Medical's core technology is based upon its proprietaryuse of anelectroporation platform to enhancethedelivery and uptake of a locally delivered DNA-based immunocytokine (ImmunoPulse) or chemotherapeutic agent(NeoPulse). Treatment ofvarious solid cancersusing these targetedanti-cancer agentshas demonstratedselective destruction of cancerous cellswhile potentially sparing healthy normal tissues during early and late stage clinical trials. OncoSec's clinical programs include three Phase II clinical trials for ImmunoPulse targeting lethal skin cancers. More information is available athttp://www.oncosec.com/.

This press release contains forward-looking statements within the meaning of the U.S. Private Securities Litigation Reform Act of 1995. Any statements in this release that are not historical facts may be considered such "forward-looking statements." Forward-looking statements are based on management's current preliminary expectations and are subject to risks and uncertainties, which may cause our results to differ materially and adversely from the statements contained herein. Some of the potential risks and uncertainties that could cause actual results to differ from those predicted include our ability to raise additional funding, our ability to acquire, develop or commercialize new products, uncertainties inherent in pre-clinical studies and clinical trials, unexpected new data, safety and technical issues, competition, and market conditions. These and additional risks and uncertainties are more fully described in OncoSec Medical's filings with the Securities and Exchange Commission. Undue reliance should not be placed on forward-looking statements, which speak only as of the date they are made. OncoSec Medical disclaims any obligation to update any forward-looking statements to reflect new information, events or circumstances after the date they are made, or to reflect the occurrence of unanticipated events.

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Research and Markets: Gene Therapy Drug Pipeline Analysis Report 2013

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/nnxfrm/gene_therapy_drug) has announced the addition of the "Gene Therapy Drug Pipeline Analysis" report to their offering.

Gene Therapy Drug Pipeline Analysis gives a comprehensive insight on the various drugs being developed for the treatment of multiple disease based upon Gene Therapy. Research report covers all the ongoing drug development in various development phases.

Each drug profiles include detailed information like: Originator, Owner, Collaborator, Technology Provider, Licensee, Development Phase, Development Indications, Mechanism of Action, Country of Development and detailed analysis on the development process.

Insight for each drug profile in development phase enables the reader to identify and understand the Gene Therapy associated with the various diseases.

This report enables pharmaceutical companies, collaborators and other associated stake holders to identify and analyze the available investment opportunity in the Gene Therapy based drug development process.

Following parameters for each drug profile in development phase are covered in Gene Therapy Drug Pipeline Analysis research report:

- Drug Profile Overview

- Alternate Names for Drug

- Active Indication

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Research and Markets: Gene Therapy Drug Pipeline Analysis Report 2013

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Southern California Stem Cell Therapy Clinic, TeleHealth, Now Offering Stem Cells for Knee Arthritis

Orange, CA (PRWEB) September 30, 2013

TeleHealth, the leading stem cell therapy clinic on the West Coast, is now offering multiple treatments with stem cells for knee arthritis. The stem cell treatments are very exciting as they present the possibility of repairing and regenerating arthritis damage in the knees. The treatments are offered by Board Certified stem cell doctors at the clinic in outpatient, low risk procedures that are often covered by insurance. Call (888) 828-4575 for more information and scheduling.

Over the past few years, increasing studies are showing the benefits of regenerative medicine treatments for knee arthritis. This includes a study out of the Hospital for Special Surgery last year showing effectiveness of platelet rich plasma therapy for knee arthritis. Treatment options at TeleHealth include both platelet rich plasma therapy (PRP therapy) along with bone marrow derived stem cell injection therapy or fat derived stem cell therapy.

Often, the treatments are combined to produce maximum knee arthritis benefit and allow patients to avoid surgery, reduce pain and dramatically increase functional ability. While knee replacement surgery has been shown to have a high success rate, the components are not meant to last forever and there can be complications with the surgery.

Therefore, it makes sense to try conservative treatment prior such as with the regenerative medicine options at TeleHealth. Especially considering the stem cell treatments are often covered by insurance.

TeleHealths main stem cell clinic is located in Orange, CA, convenient to major freeways and not far from San Diego, Los Angeles, Santa Ana and Inland Empire. The highly skilled stem cell doctors at the clinic are Board Certified and have years of experience treating musculoskeletal conditions with stem cell treatments including shoulder arthritis, rotator cuff tendonitis, Achilles tendonitis, tennis elbow, muscle tears and much more.

Call (888) 828-4575 for more information and scheduling.

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Researchers Ferret Out Function Of Autism Gene

Newswise Researchers say its clear that some cases of autism are hereditary, but have struggled to draw direct links between the condition and particular genes. Now a team at the Johns Hopkins University School of Medicine, Tel Aviv University and Technion-Israel Institute of Technology has devised a process for connecting a suspect gene to its function in autism.

In a report in the Sept. 25 issue of Nature Communications, the scientists say mutations in one such autism-linked gene, dubbed NHE9, which is involved in transporting substances in and out of structures within the cell, causes communication problems among brain cells that likely contribute to autism.

Autism is considered one of the most inheritable neurological disorders, but it is also the most complex, says Rajini Rao, Ph.D., a professor of physiology in the Institute for Basic Biomedical Sciences at the Johns Hopkins University School of Medicine. There are hundreds of candidate genes to sort through, and a single genetic variant may have different effects even within the same family. This makes it difficult to separate the chaff from the grain, to distinguish harmless variations from disease-causing mutations. We were able to use a new process to screen variants in one candidate gene that has been linked to autism, and figure out how they might contribute to the disorder.

An estimated one in 88 children in the United States is affected by autism spectrum disorders, a group of neurological development conditions marked by varying degrees of social, communication and behavioral problems. Scientists for years have looked for the biological roots of the problem using tools such as genome-wide association studies and gene-linkage analysis, which crunch genetic and health data from thousands of people in an effort to pinpoint disease-causing genetic variants. But while such techniques have turned up a number of gene mutations that may be linked to autism, none of them appear in more than 1 percent of people with the condition. With numbers that low, researchers need a way to screen variants in order to make a definitive link, Rao says.

For the new study, Rao and her collaborators focused on NHE9, which other researchers had flagged as a suspect in attention-deficit hyperactivity disorder, addiction and epilepsy as well as autism spectrum disorders. The gene was already known to be involved in transporting hydrogen, sodium and potassium ions in and out of cellular compartments called endosomes, and the team wondered how this function might be related to neurological conditions.

Raos collaborators at Tel Aviv University and Technion-Israel Institute of Technology constructed a computer model of the NHE9 protein based on previous research on a distant relative in bacteria. They then used the model to predict how autism-linked variants in the NHE9 gene would affect the proteins shape and function. Some of them were predicted to cause dramatic changes, while other changes appeared to be more subtle.

Raos team next tested how these variant forms of NHE9 would affect a relatively simple organism often used in genetic studies: yeast. Using yeast to screen the function of variants was a quick, easy and inexpensive way of figuring out which were worth further study, and which we could ignore because they didnt have any effect, Rao says. To do that, the team engineered the yeast form of NHE9 to have the variants seen in autistic people.

For those mutations that did have a detectable effect on the yeast, the team moved on to a third and more challenging step, in mouse brains. They homed in on astrocytes, a type of brain cell that clears the signaling molecule glutamate out of the way after it has performed its job of delivering a message across a synapse between two nerve cells.

Using lab-grown mouse astrocytes with variant forms of NHE9, the researchers found a change in the pH (acidity) inside cellular compartments called endosomes, which in turn altered the ability of cells to take up glutamate. Because endosomes are the vehicles that deliver cargo essential for communication between brain cells, changing their pH alters traffic to and from the cell surface, which could affect learning and memory, Rao says. Elevated glutamate levels are known to trigger seizures, perhaps explaining why autistic patients with mutations in NHE9 and related genes also have seizures, she notes.

Rao and her team hope that pinpointing the importance of this trafficking mechanism in autism spectrum disorders may lead to the development of new drugs for autism that alter endosomal pH. As the use of genomic data becomes increasingly commonplace in the future, the step-wise strategy devised by her team can be used to screen gene variants and identify at-risk patients, she says.

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Research finds vacuum's dust may be factor in disease vector

Published: Sept. 30, 2013 at 5:10 PM

ST. LUCIA, Australia, Sept. 30 (UPI) -- Vacuum dust has bacteria and mold that may affect people with allergies, infants and those with compromised immunity, Australian and Canadian researchers said.

The study by Australia's University of Queensland and Canada's Laval University found resistance genes for five common antibiotics along with the Clostridium botulinum toxin gene, the American Association for Microbiology said Monday in a release.

"Even though no quantitative data are available for antibiotic resistance gene emission while vacuuming, the observed emission rates for bacteria might suggest that the genetic content of those bacterial cells, including antibiotic resistance genes, may contribute to indoor bio-aerosol exposure," researchers said.

Researchers used a special clean air wind tunnel to measure vacuum emissions from 21 vacuums of varying quality and age.

The clean air wind tunnel allowed researchers to eliminate other sources of particles and bacteria, said Queensland's Luke Knibbs said, so researchers could "confidently attribute the things we measured purely to the vacuum cleaner."

The researchers concluded that vacuums were "underrepresented in indoor aerosol and bio-aerosol assessment and should be considered, especially when assessing cases of allergy, asthma, or infectious diseases without known environmental reservoirs for the pathogenic or causative microbe."

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Gene Variant More Common In 'Power Sport' Athletes, Study Finds

The world's elite "power sport" athletes -- including short-distance runners and power-lifters -- may all have something in common: A specific gene variant.

However, this gene variant doesn't seem to exist in people who aren't athletes, nor in elite endurance athletes.

The findings, published in the Journal of Strength and Conditioning Research, are based on analysis of DNA samples from 100 power-sport athletes (including jumpers, short-distance runners and power-lifters), 123 endurance athletes (including swimmers, rowers and long-distance runners) and 344 nonathletes. All of the athletes in the study were elite athletes, having competed on an international level before, such as in the Olympic Games or other world championships.

Researchers found that 40 percent of the power sport athletes had two copies of the "C" allele on the AGT gene (to have two copies of the "C" allele means both parents passed along their "C" alleles to the offspring). Meanwhile, just 13 percent of elite endurance athletes and 18 percent of the nonathletes had this particular genotype.

Plus, the power sport athletes were more likely to even have just one copy of the "C" allele than the others, with 55.5 percent of power athletes having just one C allele, compared with 40 percent of the others.

However, researchers did not find any genotype differences between athletes who ended up winning medals in the world competitions, versus those who did not medal.

The AGT gene is known to play a role in the regulation of body salt, fluid balance and blood pressure. While researchers said more study is needed before determining how exactly a "CC" genotype can affect strength, they noted that it could potentially promote angiotensin II production, which affects muscle performance.

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Leukemia cells are addicted to healthy genes

Sep. 30, 2013 What keeps leukemia cells alive almost forever, able to continue dividing endlessly and aggressively? New research at the Weizmann Institute suggests that, in around a quarter of all leukemias, the cancer cells rely on an internal "balance of terror" to keep going. When one version of a certain gene is mutated, it becomes a cancer-promoting gene -- an oncogene. But the new findings show that the second, normal version of the gene, which functions alongside the mutation, is what keeps the cells both cancerous and alive, able to continue forging their destructive pathway in the body. This research appeared last week in Cell Reports.

That gene, RUNX1, is crucial for the development and maintenance of the blood circulatory system. It encodes a transcription factor -- a protein that regulates the expression of many other genes. In the blood system, this transcription factor directs the differentiation of certain adult stem cells found in the bone marrow into the various mature blood cells. It only takes a single mutation in the RUNX1 gene in this type of stem cell to send it down the path to becoming a leukemic stem cell. Acute myeloid leukemia (AML), for example, is characterized by a very specific kind of mutation called a translocation. A bit of genetic material from chromosome 8 makes its way over to the RUNX1 gene on chromosome 21 and inserts itself into the genetic sequence. The result is an oncogene that encodes a fused protein -- one that takes on some new functions and loses some old ones. Several other forms of leukemia, including the most prevalent childhood leukemia, ALL, begin with a similar translocation involving RUNX1 and chromosome 12.

"The fused oncoprotein, because it directly regulates genes, leads to a series of further genetic changes in the cell," says Prof. Yoram Groner of the Institute's Molecular Genetics Department, who led the research. Groner has conducted a number of important studies of RUNX1 and other chromosome 21 genes in the past; these have included deciphering the role of RUNX1 in Down syndrome leukemia.

The present study was mainly conducted by postdoctoral fellow Dr. Oren Ben-Ami in Groner's lab, together with the group of Dr. Amos Tanay of the Computer Science and Applied Mathematics Department and Dr. Dena Leshkowitz of the Israel National Center for Personalized Medicine. In preparation for their research, the scientists were searching in various bimolecular databases for information. That is when they noticed something unusual: The clinical data suggested that the second copy of the RUNX1 gene -- the healthy, non-mutated gene -- in the leukemic cells was always preserved and even highly functional. Of course, almost all the genes in our cells are doubles -- one copy from each parent -- and the mutations that lead to cancer are likely to occur in only one of those genes. But somewhere along the path leading to full blown cancer, the healthy genes commonly tend to get silenced or overruled and the mutated ones end up prevailing.

This suggested to Groner's team a fairly unorthodox notion: The healthy version of the RUNX1 gene may also play a role in the development of the disease. But how and at what stage?

To pursue this question, the researchers grew leukemic cells in a lab dish and silenced either the healthy RUNX1 genes or the mutated ones. Sure enough, when the normal gene was silenced, the cells died; while those with both the mutated and healthy genes acted like highly potent cancer cells, refusing to expire. Further investigation revealed that the cancer cells were managing to avoid a type of cell death known as apoptosis -- a suicide mechanism which generally keeps cells that potentially harbor cancerous mutations from multiplying. In other words, it appeared that the healthy, rather than the mutated gene, was responsible for one of the more treacherous features of cancer cells -- their stubborn persistence.

Groner says the study demonstrates that the leukemic cells are "addicted" to the normal RUNX1; that is, they are physiologically dependent on the activity of normal RUNX1. "As the mutation process continues over time, the translocation-containing oncogene becomes a 'virtuoso' at transforming the cell into a cancer cell. When things go too far in the direction of all-out destruction, the cell needs that 'balance of terror' to stave off death."

Groner expects that these findings will open the door to new pathways in the search for better diagnostics and treatments for these forms of leukemia. In addition, the findings suggest that the activity of healthy genes alongside their mutated counterparts may play a role in a number of other cancer processes. "It is something no one really looked for before," says Groner.

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Africa: Microbes 'Cheaper, Fairer' for Boosting Yields Than GM

Adapting microbes that dramatically increase crop yields while reducing demand for fertilisers and pesticides through selective breeding or genetic engineering could be cheaper and more flexible than genetically modifying plants themselves, says an author of a report.

Microbes, such as beneficial bacteria, fungi and viruses, could be produced locally for smallholder farmers to significantly improve food security and incomes in developing regions, believes Ann Reid, director of the American Academy of Microbiology and co-author of a report published by the organisation last month (27 August).

"Genetic modification of crop plants, which has seen a huge investment, is closed to all but the biggest agricultural companies," she tells SciDev.Net.

"Optimisation of microbes could be done at the level of the local community college and is much more obtainable for a smallholder farmer."

Her comments echo the findings of the report - the product of an expert meeting in 2012 - which underscored the significant impact microbes could have on food production by increasing crops' absorption of nutrients, resistance to disease and environmental stresses, and even improving flavour.

As well as to accentuate naturally occurring traits such as the secretion of pest-killing toxins or nitrogen-fixation, the modification of microbes is often needed to allow them to be grown in large numbers out of their natural environment.

For example, researchers in Colombia could only produce large quantities of a fungus that improves the nutrient absorption of cassava once they bred a strain of that fungus that was capable of growing on carrot roots.

Recent technological developments in rapid DNA sequencing, imaging and computer modelling can help provide further solutions, as well as building a greater understanding of the complex environment that microbes themselves need to flourish, the report says.

These advances raise the possibility that, within two decades, microbes could increase food production by a fifth and reduce fertiliser demands by the same proportion, it finds.

But to achieve this ambitious goal, the research community must engage in curiosity-driven basic research, develop even cheaper sequencing techniques, and establish a process to move discoveries from the lab to the field, it says.

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Africa: Microbes 'Cheaper, Fairer' for Boosting Yields Than GM

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Is travel to high altitudes more risky for people with diabetes?

Public release date: 30-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 30, 2013Many factors can affect blood sugar control at high altitudes, and people considering a mountain journey need to understand the potential risks of the environmental extremes, extensive exercise, and dietary changes they may experience. Insulin needs may increase or decrease and individuals with poorly controlled diabetes are especially at risk for hypothermia, frostbite, and dehydration, for example. These and other dangers are described by two doctors who have diabetes and are avid mountaineers in an article published in High Altitude Medicine & Biology, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the High Altitude Medicine & Biology.

Paul Richards, Centre for Altitude, Space and Extreme Environmental Medicine, University College (London, U.K.) and David Hillebrandt, President, International Mountaineering and Climbing Federation Medical Commission (Bern, Switzerland), discuss the harmful effects that altitude, temperature extremes, reduced oxygen levels, and physical exertion may have on people with diabetes when they travel to destinations at high altitude for business or pleasure.

In the article "The Practical Aspects of Insulin at High Altitude" the authors explore issues related to diabetes management, such as the risk that insulin may become less effective when exposed to heat or cold and how to store it properly. They also caution that blood glucose measuring devices may be less accurate at high altitude.

"With the rising prevalence of diabetes, its management is increasingly becoming an issue at high altitude," says John B. West, MD, PhD, Editor-in-Chief of High Altitude Medicine & Biology and Professor of Medicine at the University of California, San Diego School of Medicine. "This statement by two experts in the field is a valuable contribution in a difficult area."

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About the Journal

High Altitude Medicine & Biology, the official journal of the International Society for Mountain Medicine, is published quarterly online with Open Access options. It is the only peer-reviewed journal dedicated exclusively to the latest advances in high altitude life sciences. The Journal presents findings on the effects of chronic hypoxia on lung and heart disease, pulmonary and cerebral edema, hypertension, dehydration, infertility, appetite and weight loss, and other diseases. Complete tables of content and sample issue may be viewed on the High Altitude Medicine & Biology website.

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How does divorce affect a man's health?

Public release date: 30-Sep-2013 [ | E-mail | Share ]

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

New Rochelle, NY, September 30, 2013Divorced men have higher rates of mortality, substance abuse, depression, and lack of social support, according to a new article in Journal of Men's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article provides assessment and treatment recommendations for care providers and is available free on the Journal of Men's Health website at http://www.liebertpub.com/jmh.

Authors Daniel S. Felix, PhD, University of Nebraska-Lincoln, W. David Robinson, PhD, Utah State University, Logan, and Kimberly J. Jarzynka, MD, University of Nebraska Medical Center, Omaha demonstrate an urgent need to recognize and treat men's divorce-related health problems in a provocative case study and review of the literature entitled "The Influence of Divorce on Men's Health."

Divorce has been associated with a variety of psychological and behavioral disorders. Previous studies have shown that unmarried men live significantly fewer years than married men and tend to have more health problems. For the specific case of the divorced 45-year-old man described in this case study and review, the authors recommend how to evaluate his complaints and plan a course of treatment based on current clinical guidelines.

"Popular perception, and many cultures as well as the media present men as tough, resilient, and less vulnerable to psychological trauma than women. However, this article serves as a warning signal not to follow such unfounded perceptions," says Ridwan Shabsigh, MD, President of the International Society of Men's Health (ISMH); Chairman, Department of Surgery, St. Barnabas Hospital (Bronx, NY); and Professor of Clinical Urology, Cornell University (New York). Dr. Shabsigh continues, "The fact is that men get affected substantially by psychological trauma and negative life events such as divorce, bankruptcy, war, and bereavement. Research is urgently needed to investigate the prevalence and impact of such effects and to develop diagnosis and treatment guidelines for practitioners."

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About the Journal

Journal of Men's Health is the premier peer-reviewed journal published quarterly in print and online that covers all aspects of men's health across the lifespan. The Journal publishes cutting-edge advances in a wide range of diseases and conditions, including diagnostic procedures, therapeutic management strategies, and innovative clinical research in gender-based biology to ensure optimal patient care. The Journal addresses disparities in health and life expectancy between men and women; increased risk factors such as smoking, alcohol abuse, and obesity; higher prevalence of diseases such as heart disease and cancer; and health care in underserved and minority populations. Journal of Men's Health meets the critical imperative for improving the health of men around the globe and ensuring better patient outcomes. Complete information may be viewed on the Journal of Men's Health website at http://www.liebertpub.com/jmh.

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48 new genetic variants associated with MS discovered

Washington, Oct. 1 (ANI): Scientists have identified an additional 48 genetic variants that influence the risk of developing multiple sclerosis.

The study, of 29,300 individuals with multiple sclerosis and 50,794 unrelated healthy controls, led by the University of Miami Miller School of Medicine have nearly doubled the number of known genetic risk factors and thereby provided additional key insights into the biology of this debilitating neurological condition.

The genes implicated by the newly identified associations underline the central role played by the immune system in the development of multiple sclerosis and show substantial overlap with genes known to be involved in other autoimmune diseases.

The findings released in this study nearly double the number of confirmed susceptibility loci, underline the critical role played by the immune system in the development of multiple sclerosis, and highlight the marked similarities between the genetic architecture underlying susceptibility to this and the many other autoimmune diseases.

The present study takes advantage of custom designed technology known as ImmunoChip - a high-throughput genotyping array specifically designed to interrogate a targeted set of genetic variants linked to one or more autoimmune diseases.

In addition to identifying 48 new susceptibility variants, the study also confirmed and further refined a similar number of previously identified genetic associations. With these new findings, there are now 110 genetic variants associated with MS.

The study has been published online in the journal Nature Genetics. (ANI)

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48 new genetic variants associated with MS discovered

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Multiple Sclerosis: Scientists Identify 48 Genetic Variants Linked With Condition

Scientists are gaining greater understanding of the genetics behind multiple sclerosis -- an autoimmune disease that affects the central nervous system -- with the discovery of 48 genetic variants that are linked with the condition.

The discovery of these genetic variants, which is detailed in a study in the journal Nature Genetics, brings the total number of known genetic risk factors for the disease to a total of 110.

Individually, each genetic variant is only responsible for a very small risk for multiple sclerosis. But when taken together, the 110 genetic variants "explain approximately 20 percent of the genetic component of the disease," according to a news release on the finding.

"Describing the genetic underpinnings of any complex disease is a complicated but critical step. By further refining the genetic landscape of multiple sclerosis and identifying novel genetic associations, we are closer to being able to identify the cellular and molecular processes responsible for MS and therefore the specific biological targets for future drug treatment strategies," study researcher Jacob McCauley, Ph.D., of the International Multiple Sclerosis Genetics Consortium and the University of Miami Miller School of Medicine, said in a statement.

Researchers used technology called ImmunoChip to identify the genetic variants. They analyzed DNA from 50,794 healthy people and 29,300 people with multiple sclerosis.

Multiple sclerosis is a condition where the immune system attacks the protective sheath around the nerves, leading to nerve deterioration, according to the Mayo Clinic. Symptoms can vary depending on the severity of the nerve damage. While there is no cure for the condition, treatments can help to slow its progress.

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Multiple Sclerosis: Scientists Identify 48 Genetic Variants Linked With Condition

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Genetic testing offers insight into mutations that can cause breast cancer

Actress Angelina Jolies public disclosure that she underwent a preventive double mastectomy has raised public awareness about genetics, an area of medicine that is exploding, said Dr. Beth Herrick, a radiation oncologist and medical director of the South-coast Center for Cancer Care in Fall River. Genetic testing determined Jolie had the BRCA 1 gene mutation, causing Jolie to decide to have her breasts and ovaries removed.

I was happy to see her come out so graciously about it because it obviously drew attention to a very important critical issue. I think its an area of medicine exploding in terms of our understanding of genetics not just cancer, but the role genetics play in our lives, she said.

But the test Jolie underwent to determine the BRCA 1 and BRCA 2 gene mutations is not for everyone, said Herrick, who has been doing genetic testing and counseling with her patients for a long time.

I dont test all of my breast cancer patients. Only five to six percent of all women with breast cancer have an inherited BRCA 1 or 2 mutation, said Herrick. So its pretty rare.

Everyone has the genes, she said, but if a patient is born with a mutation in either one of those genes it puts her at much higher risk of developing breast or ovarian cancer.

The hallmark of this syndrome is a younger patient (usually in the late 30s or 40s), with a cancer diagnosis, said Herrick, who, as a radiation oncologist, primarily sees patients who already have a cancer diagnosis.

With what she described as a sporadic breast cancer, the risk goes up with age. Women over age 55 are more likely to develop breast cancer that is unrelated to the BRCA 1 or 2 gene mutations.

Though Jolie didnt have breast or ovarian cancer, Herrick said Jolies family history (a mother who died fairly young from ovarian cancer) made her a candidate for the BRCA 1 or 2 test.

Herrick said its unusual for a radiation oncologist to be trained in genetic testing and counseling, which is usually done by a medical oncologist, but she became interested in that area of medicine, in part because it fascinated her, but also because she was treating so many young patients with breast cancer.

Ive been doing genetic counseling and testing for a long time. During the time I was doing my residency in the mid-1990s, the BRCA gene was discovered, she said.

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