Genetic Medicine

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Genetic Medicine

San Jose, CA, United States
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News Article | April 18, 2017
Site: www.businesswire.com

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Ambry Genetics Corporation (Ambry) is calling on psychiatrists, psychologists and behavioral specialists to encourage their patients with autism, along with their family members, to sign up for a new study conducted through Ambry’s data sharing program, AmbryShare. With this program, Ambry is taking a step towards discovering possible associations between genes and autism, so clinicians can provide their patients with targeted treatments and therapies much earlier in life. “What’s unique about AmbryShare’s approach is that we collect genetic information from clinics and families from all over the world to answer questions that can’t be answered with just a handful of patients,” said Brigette Tippin Davis, PhD, Ambry’s Director of Emerging Genetic Medicine. “The great thing about Ambry partnerships is that we are building connections between research institutions and empowering them to develop new approaches to treating patients with autism based on genetic profiles.” So far, dozens of behavioral clinics and other medical offices have contributed to AmbryShare studies by encouraging participation from their patients. Ambry strives to enroll more than 10,000 patients from clinics nationally and internationally. “Genetic testing would allow us to personalize treatment from a genetic profile and optimize it together with our rich behavioral data,” said Dennis Dixon, PhD, Chief Strategy Officer at Center for Autism and Related Disorders (CARD). “I really value working with Ambry, knowing this data will have an impact on treatment for our patients and then will still be available for other researchers to access to answer additional research questions. As we each put more samples in, it increases the overall likelihood that we’re going to find something that really makes a difference.” One in 64 children in the United States is diagnosed with an autism spectrum disorder (ASD), which can impact social interaction, communication and behavior. Genetic testing can help identify an underlying cause in up to 40% of autism spectrum disorders. Some genetic causes include chromosome microdeletions/microduplications, fragile X syndrome, Angelman syndrome, and tuberous sclerosis. New gene discovery can allow clinicians to determine their patient’s course of treatment and the gene-disease relationship associated with their individual case of autism. Through the recruitment of a massive cohort, more data will be collected to discover more genes, develop medical management plans and enact preventive strategies. “The scientists need the data to be out there,” said Charles Dunlop, Ambry’s President and Chairman. “We need to know what these diseases are actually doing, what causes them, what gene mutations are associated with them so we can move forward as an industry and move onto the next phase where there is no disease of any kind. A phase where pharmaceutical researchers know exactly what to do, or exactly what problems they’re trying to solve at a minutiae level—that’s when the cures come.” In 2016, Mayo Clinic and University of Utah collaborated with Ambry on a new research study of more than 60,000 patients to help refine breast cancer risk estimates from predisposition genes that are either previously lacking data or have limited data. The study, “Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients” represented the largest genetic study of women with hereditary breast cancer. The large amount of data was able to provide researchers with new information about genes that contributed to breast cancer risk. Ambry wants to provide researchers with the same capabilities for autism. Since 2001, Ambry has been dedicated to scientific research to help empower the scientific community and refine clinician management guidelines so patients may receive tailored medical management. AmbryShare’s initial launch in 2016 provided scientific researchers and clinicians with the largest open, de-identified database of hereditary breast and ovarian cancer cohorts with the goal of achieving a greater understanding of human disease. For more information and to enroll in the AmbryShare autism study, visit the AmbryShare portal here. Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit www.ambrygen.com. About the Center for Autism and Related Disorders (CARD) CARD treats individuals of all ages who are diagnosed with autism spectrum disorder (ASD) at treatment centers around the globe. CARD was founded in 1990 by leading autism expert and clinical psychologist Doreen Granpeesheh, PhD, BCBA-D. CARD treats individuals with ASD using the principles of applied behavior analysis (ABA), which is empirically proven to be the most effective method for treating individuals with ASD and recommended by the American Academy of Pediatrics and the US Surgeon General. CARD employs a dedicated team of over 3,000 individuals across the nation and internationally. For more information, visit www.centerforautism.com or call (855) 345-2273.


News Article | May 8, 2017
Site: www.businesswire.com

NEWTOWN SQUARE, Pa.--(BUSINESS WIRE)--XyloCor Therapeutics Inc., a privately held biotech company, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to its lead product candidate XC001 (AdVEGF-All6A+), a cardiovascular angiogenic gene therapy. XC001 is a one-time treatment being investigated for improving exercise tolerance in patients who have chronic angina that is refractory to standard medical therapy and not amenable to conventional revascularization procedures such as coronary artery bypass surgery and percutaneous coronary intervention and stents. “Achieving Fast Track status validates the need for XC001, which has the potential to be a unique treatment for this serious condition with high unmet need - chronic, refractory angina,” said Al Gianchetti, President and Chief Executive Officer of XyloCor. “This designation is supported by strong scientific evidence for XC001 and clinical validation of this mechanism of action in refractory angina. This important designation is intended to contribute to an expedited development and regulatory review process, which can get the drug sooner to patients who can benefit from it.” The FDA Fast Track designation is designed to facilitate the development and expedite the review of new drugs and vaccines intended to treat or prevent serious conditions and that demonstrate the potential to address an unmet medical need. XC001 is a novel gene therapy that promotes angiogenesis, the formation of new vessels that can provide arterial blood flow to myocardial regions with inadequate blood supply. Enhancing myocardial blood flow with therapeutic angiogenesis is intended to relieve myocardial ischemia, improve regional and global left ventricular performance, alleviate angina symptoms and disability and potentially improve prognosis. “There are many patients in the United States with refractory angina and there are no available treatment options,” said Magnus Ohman, Professor of Medicine, The Kent and Siri Rawson Director, Duke Program for Advanced Coronary Disease, Duke University School of Medicine. “These patients have significant limitations in terms of their daily activities because of the chest pain associated with their ischemic disease and XC001 could be an important new option for them.” An IND for XC001 is open with the FDA and XyloCor intends to commence clinical trials upon funding. XyloCor Therapeutics is a private biopharmaceutical company developing novel gene therapy for people with unmet medical need from advanced coronary artery disease. XyloCor is focused on developing its lead product, XC001, for patients with refractory angina with no treatment options and its secondary product, XC002, for patients with cardiac tissue damage from heart attacks. XyloCor was founded by Dr. Ronald Crystal and Dr. Todd Rosengart, who both sit on XyloCor’s advisory board. Dr. Crystal is the Bruce Webster Professor and Chairman, Department of Genetic Medicine, Weill Cornell Medicine and Director of the Belfer Gene Therapy Core Facility. Dr. Rosengart is Professor and Chairman, DeBakey Bard Chair of Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine. XyloCor has a licensing agreement with Cornell University granting the company worldwide rights to develop, manufacture and commercialize XC001. With a strong scientific foundation, compelling preclinical and clinical evidence and an experienced team, XyloCor is poised for success and to help patients lead better, healthier lives. For more information, visit www.xylocor.com.


News Article | May 17, 2017
Site: www.sciencedaily.com

Weekly doses of glucocorticoid steroids, such as prednisone, help speed recovery in muscle injuries, reports a new Northwestern Medicine study. The weekly steroids also repaired muscles damaged by muscular dystrophy. The studies were conducted in mice, with broad implications for humans. One of the major problems of using steroids such as prednisone is they cause muscle wasting and weakness when taken long term. This is a significant problem for people who take steroids for many chronic conditions, and can often result in patients having to stop steroid treatments. But the new study in mice showed weekly doses -- rather than daily ones -- promote muscle repair. "We don't have human data yet, but these findings strongly suggest some alternative ways of giving a very commonly used drug in a manner that doesn't harm, but in fact helps muscle," said lead investigator Dr. Elizabeth McNally, the Elizabeth J. Ward Professor of Genetic Medicine at Northwestern University Feinberg School of Medicine and a Northwestern Medicine physician. McNally also is the director of the Center for Genetic Medicine at Feinberg. The study was published online in May in the Journal of Clinical Investigation. The study showed prednisone directs the production of annexins, proteins that stimulate muscle healing. Giving weekly doses of prednisone also stimulated a molecule called KLF15, which is associated with improved muscle performance. Daily doses of prednisone, however, reduced KLF15, leading to muscle wasting. In the study, normal mice with a muscle injury received steroids just before injury and for two weeks after the injury. Mice receiving two weekly doses of steroids after the injury performed better on treadmill testing and had stronger muscle than mice receiving a placebo. Mice that received daily steroids for two weeks after the muscle injury performed poorly on the treadmill and in muscle strength studies, compared to placebo-treated mice. Scientists also tested the drug in a mouse model of muscular dystrophy, since prednisone is normally given for this disease. Mice with muscular dystrophy that received weekly prednisone were stronger and performed better on the treadmill than those getting a placebo. When prednisone was given every day, the muscles atrophied and wasted. McNally initiated the research because she wanted to understand how prednisone -- which is given to treat individuals with a form of muscular dystrophy called Duchenne Muscular Dystrophy -- prolongs patients' ability to walk independently and stay out of a wheelchair. "It's been known that long-term daily treatment with prednisone also has the side effect of causing muscle wasting in many people," McNally said. "So it has always been something of a medical curiosity that it is also used chronically to treat conditions like myositis (muscle inflammation) and Duchenne Muscular Dystrophy. " While years of being on the steroids cause growth suppression, osteoporosis and other bad side effects, boys with Duchenne Muscular Dystrophy walk two to three years longer if they take steroids. Boys get the disease because it is on the X chromosome, and males have only one X chromosome. "A typical boy with Duchenne Muscular Dystrophy goes into a wheelchair at age 10; if he takes steroids, it's age 13," McNally said. "So in muscular dystrophy, there is definitely a benefit, but it's a double-edged sword with all the side effects." For the study, McNally and colleagues used high-resolution imaging to view the muscle's ability to repair itself. This technique uses a laser to poke a hole in muscle cells. Then the muscle cell is observed in real time as it reseals the hole, a natural repair process. Next, the scientists tested to see if steroids could boost the repair process. "The steroids made muscle heal faster," McNally said. "We were like, 'Wow!' It accelerated the repair in the muscle cells." For the second part of the study, scientists tested steroids in mice. They damaged the leg muscles in mice and noticed the mice receiving the steroids recovered more rapidly from injury. "We showed steroid treatment, when given weekly, improves muscle performance," McNally said. Her work also implies normal muscle injury would improve more quickly by taking a weekly dose of steroids such as prednisone. In the future, McNally would like to test steroids in humans and is considering studying it in forms of muscular dystrophy in which steroids would not normally be given, like Becker Muscular Dystrophy or Limb Girdle Muscular Dystrophy. Steroid treatment is not usually offered for these diseases since the side effects are thought to outweigh any potential benefit.


News Article | May 16, 2017
Site: www.eurekalert.org

Steroids thought to waste muscles surprisingly turn out to be beneficial in weekly doses CHICAGO --- Weekly doses of glucocorticoid steroids, such as prednisone, help speed recovery in muscle injuries, reports a new Northwestern Medicine study. The weekly steroids also repaired muscles damaged by muscular dystrophy. The studies were conducted in mice, with broad implications for humans. One of the major problems of using steroids such as prednisone is they cause muscle wasting and weakness when taken long term. This is a significant problem for people who take steroids for many chronic conditions, and can often result in patients having to stop steroid treatments. But the new study in mice showed weekly doses -- rather than daily ones -- promote muscle repair. "We don't have human data yet, but these findings strongly suggest some alternative ways of giving a very commonly used drug in a manner that doesn't harm, but in fact helps muscle," said lead investigator Dr. Elizabeth McNally, the Elizabeth J. Ward Professor of Genetic Medicine at Northwestern University Feinberg School of Medicine and a Northwestern Medicine physician. McNally also is the director of the Center for Genetic Medicine at Feinberg. The study was published online in May in the Journal of Clinical Investigation. The study showed prednisone directs the production of annexins, proteins that stimulate muscle healing. Giving weekly doses of prednisone also stimulated a molecule called KLF15, which is associated with improved muscle performance. Daily doses of prednisone, however, reduced KLF15, leading to muscle wasting. In the study, normal mice with a muscle injury received steroids just before injury and for two weeks after the injury. Mice receiving two weekly doses of steroids after the injury performed better on treadmill testing and had stronger muscle than mice receiving a placebo. Mice that received daily steroids for two weeks after the muscle injury performed poorly on the treadmill and in muscle strength studies, compared to placebo-treated mice. Scientists also tested the drug in a mouse model of muscular dystrophy, since prednisone is normally given for this disease. Mice with muscular dystrophy that received weekly prednisone were stronger and performed better on the treadmill than those getting a placebo. When prednisone was given every day, the muscles atrophied and wasted. McNally initiated the research because she wanted to understand how prednisone -- which is given to treat individuals with a form of muscular dystrophy called Duchenne Muscular Dystrophy -- prolongs patients' ability to walk independently and stay out of a wheelchair. "It's been known that long-term daily treatment with prednisone also has the side effect of causing muscle wasting in many people," McNally said. "So it has always been something of a medical curiosity that it is also used chronically to treat conditions like myositis (muscle inflammation) and Duchenne Muscular Dystrophy. " While years of being on the steroids cause growth suppression, osteoporosis and other bad side effects, boys with Duchenne Muscular Dystrophy walk two to three years longer if they take steroids. Boys get the disease because it is on the X chromosome, and males have only one X chromosome. "A typical boy with Duchenne Muscular Dystrophy goes into a wheelchair at age 10; if he takes steroids, it's age 13," McNally said. "So in muscular dystrophy, there is definitely a benefit, but it's a double-edged sword with all the side effects." For the study, McNally and colleagues used high-resolution imaging to view the muscle's ability to repair itself. This technique uses a laser to poke a hole in muscle cells. Then the muscle cell is observed in real time as it reseals the hole, a natural repair process. Next, the scientists tested to see if steroids could boost the repair process. "The steroids made muscle heal faster," McNally said. "We were like, 'Wow!' It accelerated the repair in the muscle cells." For the second part of the study, scientists tested steroids in mice. They damaged the leg muscles in mice and noticed the mice receiving the steroids recovered more rapidly from injury. "We showed steroid treatment, when given weekly, improves muscle performance," McNally said. Her work also implies normal muscle injury would improve more quickly by taking a weekly dose of steroids such as prednisone. In the future, McNally would like to test steroids in humans and is considering studying it in forms of muscular dystrophy in which steroids would not normally be given, like Becker Muscular Dystrophy or Limb Girdle Muscular Dystrophy. Steroid treatment is not usually offered for these diseases since the side effects are thought to outweigh any potential benefit. The study was funded in part by National Institutes of Health grants NIH U54 AR052646 and NIH RO1 NS047726, the Muscular Dystrophy Association, Parent Project Muscular Dystrophy and the American Heart Association.


News Article | May 28, 2017
Site: www.eurekalert.org

Copenhagen, Denmark: Urinary incontinence in women is common, with almost 50% of adult women experiencing leakage at least occasionally. Genetic or heritable factors are known to contribute to half of all cases, but until now studies had failed to identify the genetic variants associated with the condition. Speaking at the annual conference of the European Society of Human Genetics today (Monday), Dr Rufus Cartwright, MD, a visiting researcher in the Department of Epidemiology and Biostatistics, Imperial College, London, UK, will say that his team's investigations hold out the promise that drugs already used for the treatment of other conditions can help affected women combat this distressing problem. Pelvic floor disorders, including urinary incontinence, but also faecal incontinence and pelvic organ prolapse, have a devastating effect on quality of life. Most commonly they occur after childbirth, or at menopause, though some women report incontinence dating from childhood. Of the 25% who are affected sufficiently for it to affect their daily lives, most suffer from stress incontinence - the loss of small amounts of urine associated with laughing, coughing, sneezing, exercising or other movements that increase pressure on the bladder. Isolated urgency incontinence - where a sudden pressing need to urinate causes the leakage of urine - affects only around 5% of women, and 5-10% have a combination of both forms. "25% of adult women will experience incontinence severe enough to impact on their quality of life," says Dr Cartwright. "Finding a genetic cause and a potential treatment route is therefore a priority." The researchers undertook a genome-wide association study (GWAS) in just under 9,000 women from three groups in Finland and the UK, confirming their findings in six further studies. Genome-wide association studies work by scanning markers across the complete sets of DNA of large numbers of people in order to find genetic variants associated with a particular disease. Analysis of the study data yielded a risk locus for urinary incontinence close to the endothelin gene, known to be involved in the ability of the bladder to contract. Drugs that work on the endothelin pathway are already used in the treatment of pulmonary hypertension and Raynaud's syndrome, a condition where spasm of the arteries causes reduced blood flow, most usually to the fingers. "Previous studies had failed to confirm any genetic causes for incontinence. Although I was always hopeful that we would find something significant, there were major challenges involved in finding enough women to participate, and then collecting the information about incontinence. It has taken more than five years of work, and has only been possible thanks to the existence of high quality cohort studies with participants who were keen to help," says Dr Cartwright. Current treatment for urinary incontinence in women includes pelvic floor and bladder training, advice on lifestyle changes (for example, reducing fluid intake and losing weight), drugs to reduce bladder contraction, and surgery. However, as the number of identified risk variants for urinary incontinence grows, there will be potential to introduce genetic screening for the condition, and improve advice to pregnant women about the likely risks of incontinence in order that they may make an informed choice about delivery method. "We know that a caesarean section offers substantial protection from incontinence. However, across Europe there are efforts to reduce caesarean section rates, and establishing such a screening programme during pregnancy may run against current political objectives in many maternity care systems. "Clearly this will need further debate and an analysis, not just of the cost to healthcare systems, but also of the benefit to women who may be spared the distress of urinary incontinence," Dr Cartwright will conclude. Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University, Newcastle, United Kingdom, said: "This work reveals the first links between urinary incontinence and genetic factors. It provides important insight into the biological mechanisms for incontinence and suggests the potential of identifying women at risk."


News Article | May 27, 2017
Site: www.eurekalert.org

Copenhagen, Denmark: Higher than normal body mass index (BMI) is known to lead to cardiovascular ill-health in mid-to-late life, but there has been limited investigation of its effect in young, apparently healthy, adults. Researchers have now shown that having a higher BMI can cause worse cardiovascular health in those aged as young as 17, according to a study to be presented to the annual conference of the European Society of Human Genetics today (Sunday). Dr Kaitlin Wade, a Research Associate at the Medical Research Council Integrative Epidemiology Unit (MRC-IEU) at the University of Bristol, Bristol, UK, and colleagues used data from The Avon Longitudinal Study of Parents and Children (ALSPAC) to investigate the potential link between increased BMI and cardiovascular health. "ALSPAC is a world-leading birth cohort study, started in the early 1990s with the inclusion of more than 14,000 pregnant mothers and their partners and children, and provides an excellent opportunity to study environmental and genetic contributions to a person's health and development. It was therefore ideal for this purpose," Dr Wade will say. The researchers hypothesised that cardiovascular risk due to increased BMI was likely to emerge in earlier life. The design of existing observational studies (those just looking for associations in the population) have meant that they are unable to make a distinction between correlation and causation. The MRC-IEU specialises in the use of genetics to help these difficult analytical situations and in this case researchers were able to use genomic data from ALSPAC to detect the likely causal relationship between higher BMI and higher blood pressure and left ventricular mass index (LVMI) in those aged 17 and 21. A thickening of the left ventricle in the heart (hypertrophy) means that it has to work harder to pump blood and is a common marker for heart disease. Higher BMI did not appear to have an effect on heart rate in these young adults, although previous studies have shown an association - most likely due to bias caused by the mixing of effects of an additional factor resulting in a distortion of the true relationship (confounding). "Our results showed that the causal impact of higher BMI on cardiac output was solely driven by the volume of blood pumped by the left ventricle (stroke volume). This, at least in part, can explain the causal effect of higher BMI on cardiac hypertrophy and higher blood pressure that we observed in all our analyses," says Dr Wade. The results support efforts to tackle the obesity epidemic from an early age in order to prevent the development of cardiovascular changes known to be precursors of cardiovascular ill-health and disease. "It is the first time that the nature of this relationship has been shown in group of young adults where it has been possible to draw improved conclusions about its causation," says Dr Wade. The researchers are now trying to untangle the relationship between higher BMI and disease mechanisms including metabolomics (the study of the chemical processes involved in the functioning of cells and the abundance and diversity of microbes living in the gut - the gut microbiome). "We have also begun an analysis of the causal role of higher BMI on detailed measures of cardiac structure and function within the ALSPAC data. We hope to further explore these associations within an older population - the UK 1946 birth cohort. "Whilst randomised controlled trials are important for disentangling cause and effect in disease, they are expensive, time-consuming and labour-intensive. Modern genomics allows us to detect causality more quickly and cheaply, and the availability of large quantities of genetic data means that we can overcome the limitations of observational epidemiological studies. We believe that there are clear messages for cardiovascular health in our findings and we hope that they may lead to increased efforts to tackle obesity from early life," Dr Wade will conclude. Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University¸ Newcastle, United Kingdom, said: "Distinguishing between correlation and causation is tremendously difficult in medical sciences, especially for complex interactions like those between obesity and cardiovascular disease. In this study, statistical genetics approaches were applied to longitudinal cohorts from the UK to improve this. The scientists could demonstrate that obesity also causes poorer cardiovascular health in young adults. In contrast, higher BMI did not seem affect heart rate in this group.''


News Article | May 28, 2017
Site: www.eurekalert.org

Copenhagen, Denmark: New genomic tools are enabling researchers to overturn long-held beliefs about the origins of populations, a researcher will tell the annual conference of the European Society of Human Genetics today (Monday). Dr Eran Elhaik, Assistant Professor of Animal and Plant Sciences at the University of Sheffield, Sheffield, UK, will say that new technologies are enabling scientists to track the origins and migrations of populations with increasing accuracy. Until recently, assumptions about origins were based on where people were buried. "However, this does not take into account the migrations which we now know took place thousands of years ago," says Dr Elhaik, who carried out the research with colleagues including Dr Umberto Esposito. Using a recently-developed technology, the ancient Geographic Population Structure (aGPS) tool, the researchers were able to find the geographical origins of ancient DNA, with the only limitation being the availability of DNA data. This in turn enabled them to combine hundreds of snap shots from the past into a reconstruction of modern history from 12,000 BC to the modern era. "This is by far the most comprehensive reconstruction of our genetic history. Our work reveals the colonisation of Europe, step by step, and answers many questions concerning the origins and migrations of Europeans," says Dr Elhaik. Applied to a dataset of over 300 ancient Eurasians and Near-Easterners during the Ice Age to Late Iron Age period, aGPS localised around 50% of the samples at up to 200km from their burial site, about 32% at between 200 and 1000km, and the remainder at between 1000 and 3,175km. "The migration patterns revealed by our work were remarkably complex and dynamic, and the difficulties in interpreting them correctly are significant. "The challenge for us now is to understand why these migrations took place. What caused a particular group of people to make a journey of over 3000km at a time when travel was complicated and dangerous? When we combine our results with archaeological and climate data, we can begin to see why," says Dr Elhaik. "For example, we can identify areas where the land became exhausted from over-farming, and thus caused the movement of populations. We can also pinpoint the formation of city states and 'biodiversity centres', corresponding to ancient empires that drew immigrants from other countries." The results allow the researchers to confirm the theory of the massive migration of populations from the steppes of the Caucasus (the Yamnaya) to Central Europe during the Late Neolithic period (3500 to 2300 BC). "We discovered that Central Europeans were always on the move, continuously mixing with other populations and forming ancient cities in Germany, Denmark and Hungary, for example close to modern-day Hamburg and Berlin, and Budapest. In contrast, Near Eastern peoples tended to stay close to home," says Dr Elhaik. "Genetic data can answer many questions that archaeology alone cannot. For example, is a specific decoration indicative of an alien culture, or simply an import? These new insights are fascinating, not just in a historical context, but because they provide additional proof of the unlikelihood of a 'day zero' of ethnic homogeneity, except perhaps in a very few isolated places. Even if it had existed, there must be practically no-one alive on earth who could trace all their ancestors to one ethnically homogenous population". There are endless challenges in this research. "Imagine working with a very short DNA sequences with more holes than bases - not only can we not align this with other ancient sequences, but we also do not know where it is from. And this is before we get to the question of "when?" which is, again, linked to "where?" because different regions entered developmental periods, like the Iron Age, at different times. "However, our findings to date have already brought about a far greater understanding of the identity of Old World residents, and our goal is now to reconstruct the full "Human Atlas" showing ancient migration patterns worldwide," he will conclude. Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University, Newcastle, United Kingdom, said: "This fascinating work illustrates the power of modern genetic approaches to study human history and migration. The scientists demonstrate that information in ancient DNA samples, even of low quality, can be used to provide a very precise geographical localisation of the origin of a person."


News Article | February 21, 2017
Site: www.businesswire.com

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Ambry Genetics (Ambry) has created an online portal to enable more patients and families to participate in research through the AmbryShare program. With this simplified portal, Ambry has streamlined the research consent process to make cohort recruitment easier for clinicians at the time of sample collection for clinical testing. Patients now have the flexibility to e-consent from home, or a mobile device during their office visits. An individual can also enroll themselves and submit a sample to the program independently, whether or not their clinician orders a clinical test at Ambry. The new e-consent portal is one more example of the company’s mission to use AmbryShare to remove the red-tape that has been slowing down scientific progress. The data-sharing program is currently focused on the genomics of autism and prostate cancer, and Ambry is actively seeking research partners for those initiatives. “We've created a simple way for patients to participate in crowd-sourced research,” said Brigette Tippin Davis, PhD, Ambry’s Director of Emerging Genetic Medicine. “If your family is impacted by disease, we are empowering you to make a real difference. AmbryShare freely enables researchers worldwide to put your de-identified genomic DNA to work to find treatments, keeping your privacy protected at the same time.” Since March 2016, Ambry has provided researchers with de-identified aggregated data from whole exome sequencing on a large cohort of affected patients with the intention of aiding and accelerating scientific research at no cost to the public. This data will ultimately help clinicians create more tailored treatments through enhanced understanding of human disease. For more information and to enroll in AmbryShare, visit the AmbryShare portal here. Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit www.ambrygen.com.


News Article | February 17, 2017
Site: www.eurekalert.org

When a child is conceived, he or she receives DNA from both parents. The child's own genome thus consists of a maternal and a paternal genome. However, some genes -- about 100 out of the 20,000 encoded genes-- are exclusively expressed either from the maternal or from the paternal genome, with the other copy of the gene remaining silent. We know that these imprinted genes are more likely to lead to serious genetic diseases, such as Prader-Willi or Angelman syndrome. Researchers at the University of Geneva (UNIGE), Switzerland, have devised a new technique, based on a combination of biology and bioinformatics, to quickly and accurately detect the imprinted genes expressed in each of the cell types that constitute the human organs. This major breakthrough will improve our understanding and diagnosis of genetic diseases. The study can be read in full in the American Journal of Human Genetics. The research team, led by Professor Stylianos Antonarakis from the Department of Genetic Medicine and Development in the Faculty of Medicine at UNIGE, focused on genomic imprinting. This is a set of genes exclusively expressed from the genetic code inherited either from the father (the paternal allele) or from the mother (maternal allele). Why is there so much interest in the identification of the imprinted genes? Because if a deleterious mutation affects the functional allele, it cannot be compensated by the expression of the second silent allele, likely causing a serious genetic disease. The goal, therefore, is to determine the imprinted genes in all cell types of human body tissues that are liable to cause these kind of diseases. Until recently, millions of cells were analysed together without distinction. «We have now developed a new technique with a better resolution, known as Human Single-Cell Allele-Specific Gene Expression," explains Christelle Borel, UNIGE researcher. "The process can be used to simultaneously examine the expression of the two alleles, paternal and maternal, of all known genes in each individual cell. The method is fast and can be carried out on thousands of single cells with the utmost precision using next-generation sequencing technology." The heterogeneity of each tissue of the body is thus analysed in detail while searching for imprinted genes in disease-relevant tissue. The individual's genome is sequenced, as is the genome of both parents, in order to identify the parental origin of the alleles transcribed in the person's single cell. Federico Santoni, first author of the study and researcher at UNIGE and HUG (Geneva University Hospitals) further explains, "We establish the profile of the allelic expression for thousands of genes in each single cell. We then process this data with a novel computational and statistical framework to identify the specific signature of each imprinted gene, enabling us to accurately record them." This new technique redefines the landscape of imprinted genes by examining all cell types, and can be applied to all tissues affected by diseases, such as cardiac and brain tissue. Moreover, the scientists have discovered novel imprinted genes and demonstrated that some were restricted to certain tissues or cell types. This technique focuses on the specific characteristics of each individual by treating each cell as a single entity. This concept, called Single-cell Genomics, is part of an emerging field that is assuming an all-important role at UNIGE, which sees it as the future of medicine that will be personalised rather than generalised. Thanks to the technique pioneered by UNIGE researchers, it will be possible to identify new disease causing genes and to adapt a specific and targeted treatment for individual patients.


INGELHEIM, Germany--(BUSINESS WIRE)--Boehringer Ingelheim today announced a collaboration with Weill Cornell Medicine to identify new treatment approaches for chronic obstructive pulmonary disease (COPD) in order to develop novel treatments that could possibly halt or even reverse the progression of the disease process. The new, three-year collaboration combines Weill Cornell Medicine’s Department of Genetic Medicine’s unique understanding of chronic airway diseases and experience in the investigation of novel therapeutic concepts for airway repair with Boehringer Ingelheim’s expertise in the discovery and development of new therapies for respiratory diseases. This collaboration is the second collaboration between Boehringer Ingelheim and Weill Cornell Medicine, following prior work in inflammatory bowel disease (IBD). Chronic lower respiratory diseases, which include COPD, are the third leading cause of death in the United States, and approximately 15 million Americans have been told by a healthcare provider that they have COPD. It cannot be cured and current treatment approaches focus on bronchodilation, reducing symptoms and preventing exacerbations to decelerate the downward spiral of the disease. The goal is to help patients keep as active as possible and overall, improve their quality of life. “Our continuous search for molecular drivers of chronic obstructive airway diseases has revealed novel repair mechanisms that warrant further investigation of their potential as therapeutic approaches,” said Dr. Ronald G. Crystal, Chairman of Genetic Medicine at Weill Cornell Medicine and lead investigator in the new collaboration. “We will look to further expand our knowledge about progressive airway destruction in close collaboration with Boehringer Ingelheim and focus on promising therapeutic concepts with the potential to slow down or halt progressive airway damage in patients with COPD.” “We are delighted to work with Dr. Crystal at Weill Cornell Medicine, who is one of the leading scientists in severe progressive airway diseases worldwide,” said Dr. Clive R. Wood, Senior Corporate Vice President, Discovery Research at Boehringer Ingelheim. “The scientists at Weill Cornell Medicine and Boehringer Ingelheim will work hand in hand to translate new discoveries into drug discovery and development programs at Boehringer Ingelheim. The new collaboration is an excellent example of our unique partnering approach and our focus on early innovation, underscoring our ambition to develop the next generation of medical treatments for patients with COPD.” Boehringer Ingelheim is combining a focus on cutting-edge science with a long-term view enabling the company to create a stable environment for the development of the next generation of medical breakthroughs. This new project adds another building block in this long-term strategy to improve the lives of patients with high unmet medical needs. Weill Cornell's Office of BioPharma Alliances and Research Collaborations negotiated the three-year collaboration. The office’s mission is to proactively generate, structure and market translational research alliances with industry in order to advance promising research projects that have commercial potential. For more information, contact Larry Schlossman at las2041@med.cornell.edu or at 212-746-6909. For references and notes to editors, please visit:

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