Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect. The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart.
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Researchers from the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (also called AIS) across Asian and Caucasian populations.
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Innovative projects including: smart-phone test and tracking systems for infectious diseases; fibre optic probes that can monitor people's condition in intensive care; and in-home sensors that can relay patient information to doctors immediately, have benefitted from a -32 million investment.
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Walter and Eliza Hall Institute researcher Professor Terry Speed has been elected as a Fellow of the Royal Society, the UK's national academy promoting excellence in science.
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Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.
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A large, multi-institutional research team involved in the NIH Epigenome Roadmap Project has published a sweeping analysis in the current issue of the journal Cell of how genes are turned on and off to direct early human development.
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The University of South Florida and Aetna are launching a ground-breaking study that will examine the influence genetic testing may have on clinical treatment decisions among breast cancer patients and their doctors.
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Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing.
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Researchers from Massachusetts General Hospital and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia - a lack of muscle coordination - and dementia.
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Kinase inhibitors are molecules that block the activity of kinases. Kinases are a specific class of enzymes. They are extremely important in signal transduction processes in the human body meaning that they actually regulate most of the physiological processes that take place in the body.
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A study led by prominent breast cancer experts from Europe and the US has revealed a number of potentially important prospects for targeted therapies, and brings opportunities of truly personalised therapy for breast cancer a step closer, researchers said at the 5th IMPAKT Breast Cancer Conference in Brussels, Belgium.
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The most in-depth look yet at endometrial cancer shows that adding genomics-based testing to the standard diagnostic workup could change the recommended course of treatment for some women.
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A team of researchers led by Washington University School of Medicine in St. Louis has identified virtually all of the major mutations that drive acute myeloid leukemia, a fast-growing blood cancer in adults that often is difficult to treat.
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nvestigators for The Cancer Genome Atlas Research Network have detailed and broadly classified the genomic alterations that frequently underlie the development of acute myeloid leukemia, a deadly cancer of the blood and bone marrow.
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Two studies from The Cancer Genome Atlas program reveal details about the genomic landscapes of acute myeloid leukemia and endometrial cancer.
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Abuse during childhood is different. A study of adult civilians with PTSD (post-traumatic stress disorder) has shown that individuals with a history of childhood abuse have distinct, profound changes in gene activity patterns, compared to adults with PTSD but without a history of child abuse.
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As scientists probe and parse the genetic bases of what makes a human a human (or one human different from another), and vigorously push for greater use of whole genome sequencing, they find themselves increasingly threatened by the unthinkable: Too much data to make full sense of.
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As scientists probe and parse the genetic bases of what makes a human a human (or one human different from another), and vigorously push for greater use of whole genome sequencing, they find themselves increasingly threatened by the unthinkable: Too much data to make full sense of.
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Scientists from the Icahn School of Medicine at Mount Sinai, in collaboration with researchers from Icelandic Heart Association, Sage Bionetworks, and other institutions, have discovered that a network of genes involved in the inflammatory response in the brain is a crucial mechanism driving Late Onset Alzheimer's Disease (LOAD).
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Officials from Geisinger Health System and Bucknell University celebrated the grand opening of the Autism and Developmental Medicine Center, a national model for implementing guidelines for early diagnosis, medication management and treatment options for children with developmental disorders.
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