About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of ...
Mar 16, 2016
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The results of an international study published in Nature Cell Biology have identified a gene (TMEM107) associated with Joubert syndrome, and crucially uncovered the mechanism by which it functions in cells, leading to a ...
Nov 25, 2015
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Researchers working with mice believe there's hope for patients with a rare genetic disorder that turns their muscle into bone, in essence immobilizing them in an extra skeleton.
Sep 2, 2015
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Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms.
Apr 24, 2015
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The disease, which has been named 'chronic atrial intestinal dysrhythmia syndrome', is a serious condition caused by a rare genetic mutation. This finding demonstrates that heart and guts rhythmic contractions are closely ...
Oct 5, 2014
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(Medical Xpress)—A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers at San Diego State University and the University of California, San ...
Sep 15, 2014
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(Medical Xpress)—Yale-led research has identified a genetic mutation responsible for the cluster of cardiovascular risk factors that comprise the obesity-related "metabolic syndrome." The study appears in the May 15 issue ...
May 15, 2014
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People at high risk of cancer of the bowel and womb due to a genetic condition will receive a more accurate diagnosis as a result of a new model developed by a team of international scientists.
Dec 24, 2013
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The first evidence that the underlying genetic defect responsible for trisomy 21, also known as Down syndrome, can be suppressed in laboratory cultures of patient-derived stem cells was presented today (Oct. 22) at the American ...
Oct 22, 2013
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As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.
Sep 29, 2013
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