Researchers have derived neurons from stem cells to investigate mutations that lead to Rett and fragile X syndromes.
Spectrum: Autism Research News
Deletion of 22q11, a schizophrenia-associated chromosomal region, may activate previously silent mutations, according to unpublished work presented Sunday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.
A massive association study links five new genetic regions to schizophrenia and implicates MIR137, a regulatory RNA that plays a role in neuron development, in the disorder.
A gene that changed rapidly after the human genome diverged from that of Neanderthals plays a critical role in brain development, according to unpublished results presented Thursday at the International Congress of Human Genetics in Montreal, Canada.
Charcot-Marie-Tooth disease and autism are both associated with alterations in the number of copies of certain genetic regions, mutations in multiple candidate genes and with both inherited and spontaneous mutations, notes human geneticist James Lupski.
A protein that regulates the development of serotonin-producing neurons in the brain is associated with autism.
Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.