RFU proposed a ground-breaking research programme two years ago into a reported link between a specific gene and the incidence of concussion England stars rejected the move to introduce genetic testing Players were concerned it would lead to an invasion of privacy A delegation from RFU's medical department had meet with club representatives urging them to participate in the study

By Sam Peters For Mail On Sunday

Published: 17:59 EST, 29 November 2014 | Updated: 18:17 EST, 29 November 2014

England's top rugby stars have blocked a move to introduce genetic testing of all professional players over fears of a Big Brother-style invasion of privacy.

The Mail on Sunday have learned that senior figures from within the RFU proposed a ground-breaking research programme two years ago into a reported link between a specific gene and the incidence of concussion.

A high-level delegation from the RFUs medical department - including head of medicine Dr Simon Kemp - presented to club representatives at the Rugby Players Association (RPA), urging them to consider participating in the study.

England centre Brad Barritt (right) is bloodied during the match with Australia on Saturday

The APOE4 gene has been identified for many years with an increased risk of Alzheimers disease and other dementias. Research carried out in the United States reported a link between APOE4 and the incidence and recovery rate from concussion in boxers and American footballers.

Approximately 20 per cent of the population carry the APOE4 gene.

It came following research carried out in the United States by world-leading head injury expert Barry Jordan which reported a link between the APOE4 gene and concussion in a sample of boxers and American footballers.

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England stars blocked RFU concussion gene-testing plan for all professional players due to 'Big Brother' privacy fears

PUBLIC RELEASE DATE:

25-Nov-2014

Contact: Amy Blustein ablustein@wihri.org 401-681-2822 Women & Infants Hospital @womenandinfants

There has been much recent debate on the benefits and risks of screening for breast cancer using BRCA1 and BRCA2 mutations in the general adult population. With an estimated 235,000 new breast cancer diagnoses each year in the U.S. and more than 40,000 deaths, it is clearly important to be able to determine which women may be genetically predisposed to breast cancer.

Glenn E. Palomaki, PhD, associate director of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital of Rhode Island has recently published an invited commentary in the November issue of Genetics in Medicine. The commentary is entitled "Is it time for BRCA1/2 mutation screening in the general adult population? Impact of population characteristics."

A family history of breast or ovarian cancer or a personal history of early-onset cancer are strong risk factors for breast cancer. Systematic criteria when caring for a patient with a positive family history have been well established by such agencies as the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network.

Dr. Palomaki said, "With the identification of the tumor suppressor genes BRCA1 and BRCA2 in the 1990s, the scientific community has extensively explored both the personal and population impact of carrying a deleterious mutation in these genes. Any new population-based screening test, such as testing for BRCA1 and BRCA2 mutations, requires consideration of key performance characteristics that evaluate both strengths and shortcomings before its introduction."

In his commentary, Dr. Palomaki cited two recent publications that present perspectives on routine, population-based screening for breast cancer using BRCA1/2 mutations in different populations.

"Together, these two publications offer an unusual opportunity to compare and contrast how distinct population differences, such as the mutations carrier rate, might influence the feasibility of population-based screening," said Dr. Palomaki. "Because founder mutations are more common in Ashkenazi Jewish women, are more easily identified and account for a higher proportion of all breast cancer cases, pilot trials in that population are indicated before launching widespread screening in Israel to identify and resolve implementation issues. Such screening in the United States, however, is more complicated, tilting the balance away from routine population screening, as least for the moment."

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Pathology specialist contributes to debate on breast cancer gene screening

PUBLIC RELEASE DATE:

24-Nov-2014

Contact: Vanessa Wasta wasta@jhmi.edu 410-614-2916 Johns Hopkins Medicine @HopkinsMedicine

After mining the genetic records of thousands of breast cancer patients, researchers from the Johns Hopkins Kimmel Cancer Center have identified a gene whose presence may explain why some breast cancers are resistant to tamoxifen, a widely used hormone treatment generally used after surgery, radiation and other chemotherapy.

The gene, called MACROD2, might also be useful in screening for some aggressive forms of breast cancers, and, someday, offering a new target for therapy, says Ben Ho Park, M.D., Ph.D., an associate professor of oncology in the Kimmel Cancer Center's Breast Cancer Program and a member of the research team.

The drug tamoxifen is used to treat estrogen receptor-positive breast cancers. Cells in this type of breast cancer produce protein receptors in their nuclei which bind to and grow in response to the hormone estrogen. Tamoxifen generally blocks the binding process of the estrogen-receptor, but some estrogen receptor-positive cancers are resistant or become resistant to tamoxifen therapy, finding ways to elude its effects. MACROD2 appears to code for a biological path to tamoxifen resistance by diverting the drug from its customary blocking process to a different way of latching onto breast cancer cell receptors, causing cancer cell growth rather than suppression, according to a report by Park and his colleagues published online Nov. 24 in the Proceedings of the National Academy of Sciences.

Specifically, the team's experiments found that when the gene is overexpressed in breast cancer cells--producing more of its protein product than normal--the cells become resistant to tamoxifen.

One piece of evidence for the gene's impact was demonstrated when the Johns Hopkins scientists blocked MACROD2's impact in breast cancer cell cultures by using an RNA molecule that binds to the gene to "silence," or turn off, the gene's expression. But the technique only partially restored the cells' sensitivity to tamoxifen.

To conduct the study, the scientists examined two well-known databases of breast cancer patients' genetic information, The Cancer Genome Atlas and the Molecular Taxonomy of Breast Cancer International Consortium study. Patients who had MACROD2 overexpressed in primary breast cancers at the original breast cancer site had significantly worse survival rates than those who did not, according to an analysis of the patient databases.

With this in mind, the Johns Hopkins scientists suggest that clinicians may be able to look at MACROD2 activity to help them identify aggressive breast cancers at early stages of growth.

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Johns Hopkins scientists link gene to tamoxifen-resistant breast cancers

A research centre has been renamed in honour of a North East expert in muscular dystrophy and related neuromuscular conditions.

The John Walton Muscular Dystrophy Research Centre, which is part of the Institute of Genetic Medicine at Newcastle University, officially adopted its new name today .

Born in Rowlands Gill, Lord Walton qualified from Newcastle Medical School, and went on to become both a consultant neurologist and professor of neurology in Newcastle, and from 1971-1981 was Dean of Medicine at the University.

The -year-old has spent his career helping improve the lives of people with muscle-wasting conditions, as well as other neurological conditions, first through medicine and then through Parliamentary campaigning.

Lord Walton said: I am deeply touched and honoured that it was decided that the centre should be called after me. It is more than 60 years since I began work on muscular dystrophy here in Newcastle and it is thrilling to see the way in which a whole area of research and management of patients has matured and developed.

I have often said that I am a simple Geordie lad, born in Rowlands Gill, brought up in this area, my father a school teacher, my mother a school teacher, my grandfather a miner, and to have been able to be at the forefront of the developments of muscular dystrophy is very exciting.

Newcastle and its reputation in the whole field of muscular dystrophy research stands very high in the world and that is something which I personally, and all the team, have every right to be proud of.

The John Walton Muscular Dystrophy Research Centre is a collaboration between Newcastle University and Newcastle Hospitals NHS Foundation Trust.

Pioneering research is carried out at the centre to develop treatments to help those with the debilitating condition.

Kate Bushby, professor of genetics at Newcastle University said: The renaming of the centre is very exciting. Lord Walton laid the foundation for the whole speciality of muscular dystrophy and he raised the profile of the condition; he started the research and he got the initial funding from the different charities and medical research council.

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Newcastle research centre renamed in honour of muscular dystrophy expert

PUBLIC RELEASE DATE:

20-Nov-2014

Contact: Scott LaFee slafee@ucsd.edu 619-543-5232 University of California - San Diego @UCSanDiego

While investigating a rare genetic disorder, researchers at the University of California, San Diego School of Medicine have discovered that a ubiquitous signaling molecule is crucial to cellular reprogramming, a finding with significant implications for stem cell-based regenerative medicine, wound repair therapies and potential cancer treatments.

The findings are published in the Nov. 20 online issue of Cell Reports.

Karl Willert, PhD, assistant professor in the Department of Cellular and Molecular Medicine, and colleagues were attempting to use induced pluripotent stem cells (iPSC) to create a "disease-in-a-dish" model for focal dermal hypoplasia (FDH), a rare inherited disorder caused by mutations in a gene called PORCN. Study co-authors V. Reid Sutton and Ignatia Van den Veyver at Baylor College of Medicine had published the observation that PORCN mutations underlie FDH in humans in 2007.

FDH is characterized by skin abnormalities such as streaks of very thin skin or different shades, clusters of visible veins and wartlike growths. Many individuals with FDH also suffer from hand and foot abnormalities and distinct facial features. The condition is also known as Goltz syndrome after Robert Goltz, who first described it in the 1960s. Goltz spent the last portion of his career as a professor at UC San Diego School of Medicine. He retired in 2004 and passed away earlier this year.

To their surprise, Willert and colleagues discovered that attempts to reprogram FDH fibroblasts or skin cells with the requisite PORCN mutation into iPSCs failed using standard methods, but succeeded when they added WNT proteins - a family of highly conserved signaling molecules that regulate cell-to-cell interactions during embryogenesis.

"WNT signaling is ubiquitous," said Willert. "Every cell expresses one or more WNT genes and every cell is able to receive WNT signals. Individual cells in a dish can grow and divide without WNT, but in an organism, WNT is critical for cell-cell communication so that cells distinguish themselves from neighbors and thus generate distinct tissues, organs and body parts."

WNT signaling is also critical in limb regeneration (in some organisms) and tissue repair.

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Signaling molecule crucial to stem cell reprogramming

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Newswise BOSTON (Nov. 20, 2014) Investigators at Massachusetts Eye and Ear and Harvard Medical School Department of Ophthalmology and colleagues reported the development and characterization of a comprehensive genetic test for inherited eye disorders in the online version of the Nature journal Genetics In Medicine today. The Genetic Eye Disease (GEDi) test includes all of the genes known to harbor mutations that cause inherited retinal degenerations, optic atrophy and early onset glaucoma. These disorders are important causes of vision loss, and genetic treatments such as gene therapy hold promise for preserving vision in affected individuals. The GEDi test is offered on a CLIA-certified basis through the Ocular Genomics Institute (OGI) at Mass. Eye and Ear.

The retina is the neural tissue in the back of the eye that initiates vision. It is responsible for receiving light signals and converting them into neurologic signals, which are then transmitted via the optic nerve to the brain so that we can see. Mutations that disrupt vision by damaging the retina and optic nerve have been identified in more than 200 genes. This genetic diversity made genetic diagnostic testing difficult until the recent development of high throughput genomic techniques. The GEDi test uses targeted capture and next generation sequencing techniques to sequence 226 genes known to cause inherited eye disorders. Future versions of the test will also include genes responsible for eye movement disorders (strabismus) and other inherited eye conditions.

Gene panel-based tests for inherited eye disorders have been previously reported, but none of these have been as thoroughly characterized with regard to their performance in a diagnostic setting as the GEDi test. Stringent tests of accuracy and reproducibility showed that the GEDi test is both highly accurate and reproducible. This type of validation testing is recommended by the American College of Medical Genetics and Genomics, but few other genetic tests have been characterized in as much detail as the GEDi test. The results reported show that the GEDi test is 98 percent accurate at detecting spelling variations or mutations in the genetic code of inherited eye disease genes, and is highly reproducible between test runs. In contrast, the technique whole exome sequencing in which the coding regions of all genes are sequenced, and which is being employed commonly in clinical settingswas 88 percent accurate at detecting genetic variants in the same genes.

The results we obtained for the GEDi test have broad implications and show that panel-based testing focused on the specific genes associated with genetic conditions offers important advantages over whole exome sequencing, said Janey Wiggs, M.D., Ph.D., director of the Genetic Diagnostic Testing Service of the OGI, and the Paul Austin Chandler Associate Professor of Ophthalmology, Harvard Medical School.

Investigators in the OGI and other centers around the United States and the world are optimistic that treatments targeting the underlying genetic cause of inherited eye disorders can be applied broadly to preserve vision. One especially promising approach is gene therapy, in which a correct copy of the misspelled or mutant gene responsible for disease is added to the affected cells in the retina. Reports of early results from clinical trials of gene therapies for two inherited retinal degenerative disorders have shown that this treatment can be performed safely, and that subjects treated in these trials experienced significant improvements in or preservation of vision. Clinical trials of gene therapies for three additional genetic forms of inherited retinal degeneration are currently in progress, and more are on the way. Given the potential of gene and genetic therapies, improved genetic diagnostic testing for patients with genetic eye disorders such as that offered with the GEDi test is especially important.

About Massachusetts Eye and Ear Mass. Eye and Ear clinicians and scientists are driven by a mission to find cures for blindness, deafness and diseases of the head and neck. After uniting with Schepens Eye Research Institute in 2011, Mass. Eye and Ear in Boston became the world's largest vision and hearing research center, offering hope and healing to patients everywhere through discovery and innovation. Mass. Eye and Ear is a Harvard Medical School teaching hospital and trains future medical leaders in ophthalmology and otolaryngology, through residency as well as clinical and research fellowships. Internationally acclaimed since its founding in 1824, Mass. Eye and Ear employs full-time, board-certified physicians who offer high-quality and affordable specialty care that ranges from the routine to the very complex. U.S. News & World Reports Best Hospitals Survey has consistently ranked the Mass. Eye and Ear Departments of Otolaryngology and Ophthalmology as among the top hospitals in the nation. Mass. Eye and Ear is home to the Ocular Genomics Institute which aims to translate the promise of precision medicine into clinical care for ophthalmic disorders. For more information about life-changing care and research, or to learn how you can help, please visit MassEyeAndEar.org.

Reference: Consugar MB*, Navarro-Gomez D*, Place EM*, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL,Gai X, Pierce EA. Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing. Genetics In Medicine, In Press. (*Co-first authors).

Grant support: This work was supported by grants from the National Institutes of Health (EY012910, and P30EY014104), the March of Dimes and the Foundation Fighting Blindness.

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Newswise Denver, Colorado -- The American College of Veterinary Internal Medicine Foundation (ACVIMF), in partnership with the Veterinary Pharmacology Research Foundation (VPRF), announced today that they have funded a new study for animal health with a pharmacologic focus. The study will be conducted by Dr. Lauren Trepanier of the University of Wisconsin-Madison for the Genetic risk for cyclophosphamide toxicity in dogs.

The strategic partnership between VPRF and ACVIMF began in 2009 in an effort to solicit, review and administer research grants with a pharmacologic focus. The Veterinary Pharmacology Research Foundation (VPRF) was formed by the governing bodies of American Academy of Veterinary Pharmacology and Therapeutics (AAVPT) and the American College of Veterinary Clinical Pharmacology (ACVCP) in June of 2006. These organizations recognized that the lack of funding for basic pharmacology research was limiting both growth and innovation in the development of new veterinary therapeutics and the number of trained researchers in the field. As such, they sought to invest their collective resources in the growth of veterinary pharmacology through research grants and training programs. Jane Owens, President, VPRF.

The first call for proposals went out in November 2009. Since then, the partnership has awarded over $88,250 to six ACVIM Board-certified researchers along with their research team members. The first VPRF grant was awarded in June 2010 to Drs. Kenneth Simpson, Melanie Craven and Belgin Dogan from Cornell University for the development of a novel amikacin delivery method for treatment of E. coli associated with Granulomatous Colitis of Boxer dogs.

In 2011, the second grant was awarded to Drs. Butch KuKanich and Kate KuKanich from Kansas State University for a study to determine the effect of CYP inhibition on tramadol disposition and pharmacological effects in dogs. In 2012, Drs. Chen Gilor and Christopher Adin of the Veterinary Clinical Sciences Department at the Ohio State University received funding for evaluating Exenatide extended release in cats. Grant monies were also awarded to Drs. Jennifer Myers, Janice Bright, Christopher Orton, Daniel Gustafson and Christine Swardson Olver from the College of Veterinary Medicine & Biomedical Sciences, Colorado State University for evaluation of the pharmacokinetics and pharmacodynamics of Apibaxin in cats. The 2013 VPRF funds were awarded to Dr. Dawn Boothe and resident Jacqueline Gimmler of Auburn University for establishing terbinafine doses for treatment of canine Malassezia infection.

The grants encourage investigators to submit proposals that focus on research to evaluate the safety, effectiveness and duration of effect of therapies for veterinary species, explore new drug therapies for animals, develop and validate methods of evaluating effects of drugs in animal diseases or conditions, or ensure that a safe food supply is not compromised by drug therapy. As this grant is a partnership between veterinary internists and VPRF, collaborations between pharmacologists and Diplomates of ACVIM were strongly encouraged.

About Veterinary Pharmacology Research Foundation The Veterinary Pharmacology Research Foundation provides grant funding to support research into new and currently approved medications for combating diseases of companion and food animals, projects that ensure the safety of food products from treated livestock, and training programs for veterinary pharmacologists. These areas have been unmet needs in veterinary medicine for over 30 years. To donate to the Foundation, please access the following: http://aavpt.affiniscape.com/associations/12658/files/VPRFDonationForm3.pdf

About the ACVIM Foundation The American College of Veterinary Internal Medicine (ACVIM) Foundation is a non-profit 501(c)(3) organization dedicated to pioneering the healthcare of animals through the work of specialists in the American College of Veterinary Internal Medicine (ACVIM): small and large animal internists, cardiologists, neurologists, and oncologists. By supporting the work of these groundbreaking scientists, by raising awareness of specialty medicine, and by mobilizing the animal-loving public, we aim to revolutionize current treatments and spark the discovery of future cures. The ACVIM Foundation recognizes the need for advanced care, research dollars, awareness, and the need to support the Resident-in-training and the future scientist. Learn more at http://www.ACVIMFoundation.org.

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Veterinary Pharmacology Research Foundation Continues Support for American College of Veterinary Internal Medicine

Introduction:

A genetic condition is an sickness because of to abnormalities in genetics or chromosomes, specially a predicament that is current from ahead of beginning. Most genetic problems are really unusual and influence 1 person in each many 1000s or thousands and thousands.

.A genetic problem may or may possibly not be a heritable difficulty. Some genetic issues are accredited down from the mother or father genes, but other individuals are usually or almost thanks to new mutations or alterations to the DNA. In other situations, the very same condition this sort of as some kinds of most cancers, may be due to inherited genetic situation in some people, by new mutations in other people, and by nongenetic leads to in still other folks.

Fundamental Details:

Here we have different varieties of genetic ailments. They are:

One-gene Multifactorial Chromosomal Mitochondrial

Solitary-gene:

This is 1 of the kind of the genetic condition, it could brings about by the alterations of the mutations happen in the DNA sequence of one particular gene. Genetic code for essential proteins, the substances that have out most of the function. And also execute most daily life characteristics and even make up by the vast majority of cellular factors. When a gene is mutated so that its protein solution can be no longer to bring out its regular operate,a problem can result.

Multi factorial:

This is also a single of the variety of genetic condition thanks to mixture of ecological variables and strains in several genes.When interacting with the avoidance of multifactorial diseases, there are several pitfalls working at many diverse phases. Some are obtainable at the social stage, other people at the neighborhood or group phase, other people at the stage of specific actor, and other folks at the biological phase. Prevention packages for multifactorial ailments have to be developed to offer with as a lot of of these phases as achievable.

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Genetic Ailments in People - Genetics Medicine

PUBLIC RELEASE DATE:

18-Nov-2014

Contact: Nancy Solomon solomonn@slu.edu 314-977-8017 Saint Louis University

A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine.

Angela Sharkey, M.D., professor of pediatrics at Saint Louis University, and a study author, said researchers found losartan, which had been more effective in an animal model of Marfan syndrome, was equally effective to a high dose of the beta blocker atenolol.

"While there may be certain patients who respond better to one drug or another, we found no evidence that losartan is superior to atenolol, a beta blocker currently prescribed for Marfan syndrome," said Sharkey, who was honored earlier this year as the Marfan Foundation's Hero with a Heart. "Losartan appears to be a reasonable alternative treatment for patients who can't take beta blockers, which could give physicians another option to treat a rare and debilitating genetic disease."

Both medications are designed to relax the blood vessels so the heart doesn't have to work as hard to pump blood through the body. Atenolol slows the heart rate, which decreases blood pressure and losartan prevents certain natural substances in the body from tightening the blood vessel walls.

The multi-site, NIH-funded trial followed 608 patients between ages 6 months and 25 years who had enlarged aortas (the main artery carrying blood to the body) for three years. All received either losartan, the investigational medication, or a higher dose of atenolol than is typically prescribed.

Patients in both treatment groups showed no difference in the rate of growth of their aortas.

Additionally, the incidence of aortic-root surgery, aortic dissection, or death did not differ between treatment groups.

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Investigational drug may offer another option to treat Marfan syndrome

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Newswise November 19, 2014, New York, NY A team led by Ludwig and Memorial Sloan Kettering (MSK) researchers has published a landmark study on the genetic basis of response to a powerful cancer therapy known as immune checkpoint blockade. Their paper, in the current issue of the New England Journal of Medicine, describes the precise genetic signatures in melanoma tumors that determine whether a patient will respond to one such therapy. It also explains in exquisite detail how those genetic profiles translate into subtle molecular changes that enable the immune system attack of cancer cells in response to immune checkpoint blockade.

The genetic signature we have found will be invaluable to understanding the biological mechanisms that drive therapeutic responses to immunotherapy for metastatic melanoma, says Jedd Wolchok, MD, PhD, director of the Ludwig Collaborative Laboratory and associate director of the Ludwig Center for Cancer Immunotherapy at MSK, who co-led the study with Timothy Chan, MD, PhD, of MSKs Human Oncology and Pathogenesis Program. Further, our strategy can now be applied to determine the genetic signatures associated with the efficacy of a number of other immunotherapies and cancers.

Few approaches to treating cancer have generated as much excitement as immunotherapy, in which the immune system is engaged to destroy malignancies. One class of such treatments targets CTLA-4, a molecule expressed on the surface of killer T cells that ordinarily blocks their proliferation. Antibody drugs that block CTLA-4 thus stimulate killer T cell responseswhich can target cancer cellsand significantly extend survival for many melanoma patients. Yet not all patients respond equally to this treatment: some, remarkably, survive many years; others fail to respond at all.

There is a subset of melanoma patients who are living far longer than anyone would have expected in the past, largely because of this treatment and other recently developed targeted and immunologic treatments, says Wolchok. But we did not know how to identify them, and thats what really drove this investigation.

Cancer cells are swift but sloppy proliferators, generating countless mutations across their genome as they multiply. Those mutations are often expressed as changes in the chains of amino acids that make protein molecules. Like all cells, cancer cells chop up and hold out short fragments of such proteinseach about 9 amino acids in lengthfor the immune system to assess. These peptides are held up and presented to immune cells by a protein complex known as MHC Class I, which varies significantly between people.

Previous studies by Jedd and others had shown that the particular MHC type of a patient doesnt appear to influence the efficacy of CTLA-4 blockade, says Chan. So we decided to see if the tumor genome has anything to say about whether or not people respond to this therapy. The result was entirely unexpected, and the answer is exceedingly important.

Chan, Wolchok and their colleagues initially hypothesized that tumors that harbored highly mutated cells would be most responsive to CTLA-4 blockade. To test that hypothesis, they sequenced and compared all of the genes expressed as proteins (collectively known as the exome) in tumors taken from 25 patients treated with anti-CTLA-4 antibodies and found that this was, to some degree, true. But looking at the data a little more deeply, says Wolchok, we saw that there were outlierspatients who had over one thousand mutations who didnt respond, and some with just a few dozen who did. This was a strong indication that the quality of the mutations matters.

A sophisticated computational analysis of the cancer genomes revealed that a set of core peptide sequenceseach four amino acids long (tetrapeptides)within MHC Class I-presented peptides were unequivocally associated with response to treatment. To test the prognostic power of this genetic signature, the researchers sequenced the exomes of tumors from another 39 melanoma patients treated with CTLA-4 blockade. They found that all those in this set who had responded to the therapy had at least one and typically several more of the tetrapeptides they had identified. Those who failed to respond did not. Their results show that the mutant DNA sequences, can occur anywhere in the genomenot just within mutant driver genes that are already known to contribute to cancer.

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A Signature for Success

Are people born gay or is it a choice? A new study of gay brothers, the largest to date, adds more scientific evidence that theres a genetic basis for homosexuality.

A genetic analysis of over 409 pairs of gay brothers found that two areas of the human genome, a portion of the X chromosome and a portion of chromosome 8, were associated with the mens sexual orientation. The findings gel with a smaller study conducted in 1993 that implicated the same area of the X chromosome.

Before proceeding, its important to be clear that this study did not discover a gay gene. The regions they identified contain many different genes, so scientists still have a lot of searching to do before finding the specific genes that underlie sexual orientation. With that said, heres how scientists established a broad genetic link.

Over several years, the studys lead author Alan Sanders, of the NorthShore Research Institute in Illinois, collected blood and saliva samples from 409 pairs of gay brothers, including sets of non-identical twins. Then, researchers went through each mans samples looking for unique genetic markers shared by all men in the study.

The 818 men varied in hair color, height, intelligence and other physical attributes. So each man had unique genetic markers matching their unique traits. The one thing they did have in common was that they were all gay. Therefore, if the same genetic variants are found in the same spots in each man, theres reason to believe these places have something to do with sexual orientation.

The two most frequently shared genetic markers were from the Xq28 region on the X chromosome and the 8q12 region on the 8 chromosome. This commonality suggests theres a genetic link for male homosexuality. They published their findings Monday in the journal Psychological Medicine.

One of the primary weaknesses of the study, as pointed out by Sciences Kelly Servick, is that researchers used a type of analysis, genetic linkage, thats been phased out by more precise techniques.

Genetic linkage studies only identify relationships between broad regions that could contain hundreds of different genes. Today, the linkage technique has been replaced by genome-wide association studies, which identify specific genes associated with traits being studied.

According to the Associated Press, other researchers have questioned the data as well:

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Study of Gay Brothers Suggests Genetic Basis of Male Homosexuality

PUBLIC RELEASE DATE:

17-Nov-2014

Contact: Megan Fellman fellman@northwestern.edu 847-491-3115 Northwestern University @northwesternu

Metastasis is bad news for cancer patients. Northwestern University scientists now have demonstrated a simple but powerful tool that can detect live cancer cells in the bloodstream, potentially long before the cells could settle somewhere in the body and form a dangerous tumor.

The NanoFlare technology is the first genetic-based approach that is able to detect live circulating tumor cells out of the complex matrix that is human blood -- no easy feat. In a breast cancer study, the NanoFlares easily entered cells and lit up the cell if a biomarker target was present, even if only a trace amount. The NanoFlares are tiny spherical nucleic acids with gold nanoparticle cores outfitted with single-stranded DNA "flares."

"This technology has the potential to profoundly change the way breast cancer in particular and cancers in general are both studied and treated," said Chad A. Mirkin, a nanomedicine expert and a corresponding author of the study.

Mirkin's colleagues C. Shad Thaxton, M.D., and Chonghui Cheng, M.D., both of Northwestern University Feinberg School of Medicine, are also corresponding authors.

The research team, in a paper to be published the week of Nov. 17 by the Proceedings of the National Academy of Sciences (PNAS), reports two key innovations:

"Cancers are very genetically diverse, and it's important to know what cancer subtype a patient has," Mirkin said. "Now you can think about collecting a patient's cells and studying how those cells respond to different therapies. The way a patient responds to treatment depends on the genetic makeup of the cancer."

Mirkin is the George B. Rathmann Professor of Chemistry in the Weinberg College of Arts and Sciences and professor of medicine, chemical and biological engineering, biomedical engineering and materials science and engineering.

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First genetic-based tool to detect circulating cancer cells in blood

PUBLIC RELEASE DATE:

18-Nov-2014

Contact: Karen Astle karen.astle@heart.org 214-706-1392 American Heart Association @HeartNews

Adults counseled on their genetic risk of coronary heart disease believe they have more control over their fate, according to research presented at the American Heart Association's Scientific Sessions 2014.

Researchers examined the impact of disclosing risk of 10-year heart disease with or without genetic risk information to 207 patients (48 percent male, average age 58) participating in Myocardial Infarction GENES (MI-GENES), a randomized controlled study.

The study's key elements included a risk score based on established risk factors and a genetic risk score based on 28 single nucleotide polymorphisms; risk disclosure by a genetic counselor in a 30-minute session; and two questionnaires about patient satisfaction - perceived personal control and genetic counseling satisfaction.

Researchers found that patients who received the genetic risk information had a higher perceived personal control value compared to those who didn't (8.85 vs. 8.54). Patients who received genetic risk information also reported a higher genetic counseling satisfaction (9.08 vs. 8.3).

"We have shown that disclosure of genetic risk led to increased perceived personal control and counseling satisfaction, which are associated with the increased likelihood of adopting healthier behaviors that may reduce coronary heart disease risk," said Christopher L. Robinson, lead author of the study. MI-GENES Study information (PDF)

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Christopher L. Robinson, M.D. candidate at Saint Louis University School of Medicine, St. Louis, Missouri

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Patients counseled on genetic heart disease risk feel they have more control over fate

worldhealth.net

SOUTH BEND, Ind.--- In 1990 the Human Genome Project started.

It was a massive scientific undertaking that aimed to identify and map out the body's complete set of DNA.

This research has paved the way for new genetic discoveries, and one of those has allowed scientists to study how to fix bad chromosomes.

Case Western Reserve University scientist, Anthony Wynshaw-Boris, is studying how to repair damaged chromosomes.

Our bodies contain 23 pairs of chromosomes, 46 in total, but if chromosomes are damaged, they can cause birth defects, disabilities, growth problems and even death.

Wynshaw-Boris is taking skin cells and reprogramming them to work like embryonic stem cells, which can grow into different cell types.

"We are taking an adults, or a child's, skin cells, said Wynshaw-Boris. We are not causing any loss of an embryo, and you're taking those skin cells to make a stem cell."

Scientists studied patients with a specific defective chromosome that was shaped like a ring. They took the patients' skin cells and reprogrammed them into embryonic-like cells in the lab.

They found this process caused the damaged "ring" chromosomes to be replaced by normal chromosomes.

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New DNA discovery could lead to chromosome therapies in the future

November 18, 2014

Provided by Michael McCarthy, University of Washington Health Sciences/UW Medicine

Genetic analysis unveils airway and lung responses to pandemic flu and cystic fibrosis

In what is likely to be a major step forward in the study of influenza, cystic fibrosis and other human diseases, an international research effort has sequenced the ferret genome. The sequence was then used to analyze how the flu and cystic fibrosis affect respiratory tissues at the cellular level.

The National Institute of Allergy and Infectious Diseases, of the National Institutes of Health, funded the project, which was coordinated by Michael Katze and Xinxia Peng at the University of Washington in Seattle and Federica Di Palma and Jessica Alfoldi at the Broad Institute of MIT and Harvard.

The sequencing of the ferret genome is a big deal, said Michael Katze, UW professor of microbiology, who led the research effort. Every time you sequence a genome, it allows you to answer a wide range of questions you couldnt before. Having the genome changes a field forever.

Ferrets have long been considered the best animal model for studying a number of human diseases, particularly influenza, because the strains that infect humans also infect ferrets, These infections spread from ferret to ferret much as they do from human to human.

In the study, scientists at Di Palma and Alfoldi of the Broad Institute first sequenced and annotated the genome of a domestic sable ferret (Mustela putorius furo). They then collaborated with the Katze group on the subsequent analysis. A technique called transcriptome analysis identifies all the RNA that is being produced, or transcribed, from areas of the genome that are activated at any moment. This makes it possible to see how the ferret cells are responding when challenged by influenza and cystic fibrosis.

By creating a high quality genome and transcriptome resource for the ferret, we have demonstrated how studies in non-conventional model organisms can facilitate essential bioscience research underpinning health, said Di Palma, director of Science in Vertebrate & Health Genomics at The Genome Analysis Centre.

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Ferret Genome Sequenced, Holds Clues To Respiratory Diseases

By LINDSEY TANNER AP Medical Writer

CHICAGO (AP) - A large study of gay brothers adds to evidence that genes influence men's chances of being homosexual, but the results aren't strong enough to prove it.

Some scientists believe several genes might affect sexual orientation. Researchers who led the new study of nearly 800 gay brothers say their results bolster previous evidence pointing to genes on the X chromosome.

They also found evidence of influence from a gene or genes on a different chromosome. But the study doesn't identify which of hundreds of genes located in either place might be involved.

Smaller studies seeking genetic links to homosexuality have had mixed results.

The new evidence "is not proof but it's a pretty good indication" that genes on the two chromosomes have some influence over sexual orientation, said Dr. Alan Sanders, the lead author. He studies behavioral genetics at NorthShore University HealthSystem Research Institute in Evanston, Illinois.

Experts not involved in the study were more skeptical.

Neil Risch, a genetics expert at the University of California, San Francisco, said the data are statistically too weak to demonstrate any genetic link. Risch was involved in a smaller study that found no link between male homosexuality and chromosome X.

Dr. Robert Green, a medical geneticist at Harvard Medical School, called the new study "intriguing but not in any way conclusive."

The work was published Monday by the journal Psychological Medicine. The National Institutes of Health paid for the research.

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Study suggests genetic link for male homosexuality

By Randy Dotinga HealthDay Reporter

WEDNESDAY, Nov. 12, 2014 (HealthDay News) -- Many American doctors may not support genetic testing in patients without a major family history of certain illnesses, suggests a new survey of physicians.

When presented with the hypothetical case of a middle-aged man with a family history of cancer in an aunt and uncle, more than a third of 180 U.S. doctors surveyed said they wouldn't recommend any genetic testing. Almost half would only recommend testing for cancer genes, and fewer than one in five would recommend whole-genome testing, according to the survey.

The genome is the complete genetic "blueprint" for an individual.

So what's going on? "Most doctors still feel uncomfortable with genetic testing," said Dr. Robert Klitzman, who studies genetic testing and is a professor of psychiatry at Columbia University's Joseph Mailman School of Public Health in New York City.

"Most doctors feel uncomfortable with knowing how to order genetic information, interpret it and counsel patients," explained Klitzman, who was not part of the study.

And even when genetic testing is done, the results may provide plenty of frustrating uncertainty about a patient's future health, he said.

In some cases where potential treatment options are clearer, such as women with histories of breast and ovarian cancer on one side of the family, doctors may be likely to order genetic tests, Klitzman said. Genetic tests can indicate that certain women have much higher risks of breast and ovarian cancers, according to the National Cancer Institute.

The survey asked readers of The New England Journal of Medicine to consider genetic testing in a made-up 45-year-old patient who requested it. The hypothetical man didn't appear to have any significant risks based on his health or family history.

Doctors responded from 77 countries. The responses from the United States were similar overall to those in the rest of the world. Of the 929 respondents, 74 wrote comments and expressed concern about what to tell the patient if testing showed a risk of cancer. Would the patient be stressed out or even be able to do anything? What about cost and the potential for discrimination against the patient based on his medical future?

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Many U.S. Doctors Wary of Genetic Testing: Survey

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14-Nov-2014

Contact: Michael Kennedy m.kennedy@utoronto.ca 416-946-5025 University of Toronto @UofTNews

Researchers from the University of Toronto (U of T) report that personalized dietary advice based on a person's genetic makeup improves eating habits compared to current "one-size-fits-all" dietary recommendations. The findings were published online today in the journal PLoS One.

"We conducted the first randomized controlled trial to determine the impact of disclosing DNA-based dietary advice on eating habits," says Ahmed El-Sohemy, an Associate Professor in Nutritional Sciences at U of T and Canada Research Chair in Nutrigenomics. "We found that people who receive DNA-based advice improve their diet to a greater extent than those who receive the standard dietary advice. They're also the ones who need to change it the most."

Nutrigenomics is a field of research that aims to understand why some people respond differently than others to the same foods. Personalized nutrition, a branch of personalized medicine, is an application of nutrigenomics that helps tailor dietary recommendations to a person's DNA.

The researchers collected data on the intake of caffeine, sodium, vitamin C and sugar from 138 healthy young adults. The subjects were then randomized into two different study groups--one was given DNA-based dietary advice for each of the four dietary components of interest, and the other group was given current standard dietary advice for the same dietary components with no genetic information.

Changes in their dietary habits were assessed after three and 12 months. The researchers found that subjects who received DNA-based dietary advice started to show improvements to their diets after three months and the changes became even more apparent after 12 months.

Specifically, those who were informed that they carried a version of a gene linked to salt intake and high blood pressure significantly reduced their sodium intake, in accordance with the recommendation, compared to the group that received the standard advice for sodium intake.

No effects were observed for the other components of the diet. However, most subjects were already meeting the dietary recommendations for the three other components at the start of the study, and the researchers believe this might explain why no significant changes were seen in these intakes.

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Genetic testing for personalized nutrition leads to better outcomes

PUBLIC RELEASE DATE:

14-Nov-2014

Contact: Crystal Mackay crystal.mackay@schulich.uwo.ca 519-661-2111 x80387 University of Western Ontario @mediawesternu

Researchers at Western University are using cutting-edge genetic mutation-analysis software developed in their lab to interpret mutations in tumour genome that may provide insight into determining which breast cancer tumours are more likely spread to other parts of the body and which ones won't.

Their findings are published today in the journal, Nature Scientific Reports.

"We are using a unique software program in our lab that looks at a type of mutation called a splicing mutation that is typically overlooked using current methods," said lead author on the study, Stephanie Dorman, a PhD student in the department of biochemistry at Western University's Schulich School of Medicine & Dentistry. She said that where previous genetic studies of 445 tumours detected 429 of these splicing mutations, the Western-developed analysis software was able to find more than 5000.

Using this software and human tumour tissue sample genetic data from The Cancer Genome Atlas, the research team pinpointed that mutations in the Neural Cell Adhesion Molecule (NCAM) and other related genes in NCAM biology were present at a much higher rate in tumours which had metastasized to the lymph nodes than those that did not. NCAM, typically found in neural cells is also highly expressed in breast tissue, and is involved in communication between cells.

"We believe that mutations in these biological pathways in some patients might be causing some of the characteristics of the tumour that enable it to migrate to other parts of the body," said Dorman.

Dr. Peter Rogan, principal investigator on the study and a Professor in the Departments of Biochemistry and Computer Science, hopes that these findings will allow oncologists and clinical laboratories looking for these mutations in tumour biopsies to predict which women are at higher risk for more aggressive tumours that might metastasize.

"One of the big issues in breast oncology is that women are sometimes treated with chemotherapy even if their tumour isn't going to metastasize," said Rogan. "The ideal situation would be to be able to identify those patients where the side-effects and potential negative consequences of chemotherapy following surgery can be avoided or at least, minimized."

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Cutting-edge computer software helps pinpoint aggressiveness of breast cancer tumors

November 14, 2014

Provided by Michael McCarthy, University of Washington Health Sciences/UW Medicine

New technology closes many gaps in mapping that have long resisted sequencing

Thousands of never-before-seen genetic variants in the human genome have been uncovered using a new sequencing technology. These discoveries close many human genome mapping gaps that have long resisted sequencing.

The technique, called single-molecule, real-time DNA sequencing (SMRT), may now make it possible for researchers to identify potential genetic mutations behind many conditions whose genetic causes have long eluded scientists, said Evan Eichler, professor of genome sciences at the University of Washington, who led the team that conducted the study.

We now have access to a whole new realm of genetic variation that was opaque to us before, Eichler said. He and his colleagues reported their findings Nov. 10 in the journal Nature.

To date, scientists have been able to identify the genetic causes of only about half of inherited conditions. This puzzle has been called the missing heritability problem. One reason for this problem may be that standard genome sequencing technologies cannot map many parts of the genome precisely.

These approaches map genomes by aligning hundreds of millions of small, overlapping snippets of DNA, typically about 100 bases long, and then analyzing their DNA sequences to construct a map of the genome.

This approach has successfully pinpointed millions of small variations in the human genome. These variations arise from substitution of a single nucleotide base, called a single-nucleotide polymorphisms or SNP.

The standard approach also made it possible to identify very large variations, typically involving segments of DNA that are 5,000 bases long or longer. But for technical reasons, scientists had previously not been able to reliably detect variations whose lengths range from about 50 bases to 5,000 bases in length.

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Thousands Of Never-Before-Seen Human Genome Variations Uncovered