Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also ...
Jul 17, 2013
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Individuals with the neurodevelopmental disorder Williams syndrome have a gregarious "cocktail party" personality, while those with the opposite genetic alteration, in contrast, tend to have autistic traits and are prone ...
Feb 28, 2024
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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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When should patients and family members undergo genetic assessment for a heart condition? Find out in an international consensus document published in EP Europace, a journal of the European Society of Cardiology (ESC) and ...
Apr 4, 2022
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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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When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic ...
Mar 21, 2012
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UCLA geneticists have identified the mutation responsible for IMAGe* syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes ...
May 27, 2012
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In sudden death in epilepsy, people stop breathing for no apparent reason and die. Now, a group of UConn neuroscientists have a lead as to why, they report in the journal eLife.
Jun 20, 2019
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A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted ...
Apr 29, 2011
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Researchers at Vanderbilt University Medical Center, in collaboration with Seaside Therapeutics in Cambridge, Mass., have achieved a milestone in the development of a potential new treatment for fragile X syndrome, the most ...
Sep 16, 2011
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