The risk gene adenylyl cyclase 2 is associated with bipolar disorder, as has been repeatedly confirmed in genome-wide association studies. However, until now there has not been any proof of a causal ...
From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at have now identified causative mutations in another ...
SCN2A related-disorders, although rare in the general population, are one of the more common single-gene neurodevelopmental conditions characterized by infantile seizures, autism spectrum disorder and ...
In the study, published in Nature Medicine, the team for the first time used human brain cells to model the disease and test new drugs instead of the mouse models Scientists have discovered how a ...
Watch: ‘Survivor’ contestant jumps into action to help co-competitor with autism ...
(from left) Dr. Buket Basmanav, Nicole Cesarato, Xing Xiong, Prof. Regina Betz and Yasmina Gossmann find causative mutations in the keratin 31 gene for the dominantly-inherited form of monilethrix.
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