A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published ...
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Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the ...
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Scientists at the Jean Mayer USDA Human Nutrition Research Center on Aging (HNRCA) at Tufts University have discovered a new gene mechanism that appears to regulate triglyceride levels. This pathway may protect carriers of ...
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Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of ...
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More than two hundred gene locations have now been identified for the chronic bowel condition Crohn's Disease, in a study that analysed the entire human genome.
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(Medical Xpress)—Scientists have identified an underlying genetic cause for a rare disorder of motor neurones, and believe this may help find causes of other related diseases.
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Researchers at the Douglas Mental Health University Institute, have discovered a new genetic process that could one day provide a novel target for the treatment of neurodevelopmental disorders, such as intellectual disability ...
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Computer scientists at Columbia's School of Engineering and Applied Science have published a study in the November 2012 issue of The American Journal of Human Genetics (AJHG) that demonstrates a new approach used to analy ...
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About 10 percent of kids born with kidney defects have large alterations in their genomes known to be linked with neurodevelopmental delay and mental illness, a new study by Columbia University Medical Center (CUMC) researchers ...
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A large-scale analysis of Y chromosomes from more than 20,000 men finds that two spontaneously recurring deletions along a complex region of the Y chromosome are responsible for approximately 8% of cases of failed sperm production.
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(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
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In the largest-ever genetic study of cholesterol and other blood lipids, an international consortium has identified 21 new gene variants associated with risks of heart disease and metabolic disorders. The findings expand ...
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Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
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Uterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk ...
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(Medical Xpress)—With the ability to sequence human genes comes an onslaught of raw material about the genetic characteristics that distinguish us, and wading through these reserves of data poses a major challenge for life ...
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