American Journal of Human Genetics
Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism
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 ...
Genetics
Dec 27, 2012 |
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Carriers of gene variant appear less likely to develop heart disease
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 ...
Genetics
Dec 14, 2012 |
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Two new genetic mutations associated with Cowden syndrome
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 ...
Genetics
Dec 13, 2012 |
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More than 200 genes identified for Crohn's Disease
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.
Genetics
Dec 13, 2012 |
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Researchers find new genetic pathway behind neurodevelopmental disorders
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 ...
Genetics
Dec 06, 2012 |
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Researchers produce a catalog of the deleterious and disease-causing genetic variants in healthy people
Researchers at Cambridge and Cardiff have found that, on average, a normal healthy person carries approximately 400 potentially damaging DNA variants and two variants known to be associated directly with disease traits. They ...
Genetics
Dec 06, 2012 |
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Reading history through genetics: New method analyzes recent history of Ashkenazi and Masai populations
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 ...
Genetics
Dec 05, 2012 |
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Studies in mice confirm that mutations in the gene, UBE3B, cause a rare genetic disorder in children
Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this ...
Genetics
Nov 29, 2012 |
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Surprising genetic link between kidney defects and neurodevelopmental disorders in kids
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 ...
Genetics
Nov 15, 2012 |
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Study reveals rate at which key genetic deletions contribute to male infertility
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.
Genetics
Oct 25, 2012 |
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Protein regulation linked to intellectual disability
Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in ...
Genetics
Oct 25, 2012 |
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Genetic error linked to rare disease that causes chronic respiratory infections
(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.
Genetics
Oct 16, 2012 |
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Large international study finds 21 genes tied to cholesterol levels
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 ...
Genetics
Oct 11, 2012 |
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Scientists discover gene behind rare disorders
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.
Genetics
Oct 09, 2012 |
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Genetic risk for uterine fibroids discovered
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 ...
Genetics
Oct 04, 2012 |
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