Mice lacking a copy of SHANK3, a gene associated with autism and intellectual disability, show marked improvements in brain signaling after being treated with insulin-like growth factor 1, according to unpublished findings presented Saturday at the International Congress of Human Genetics in Montreal, Canada.
The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.
Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.
Researchers have created a mouse carrying a deletion in SHANK3, an autism candidate gene, they reported yesterday in Nature. This is the second model of SHANK3 mutations but shows markedly more behavioral and brain defects compared with the first.
A new technique for creating stem cells from hair may help researchers understand how neurons and the junction between them form.
The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.
The First International Phelan-McDermid Syndrome Symposium, held last week in New York City, brought together scientists and patient advocates to share insights — including a surprising realization about mice missing the SHANK3 gene.
Scientists have created mice that carry mutations in SHANK3, one of the strongest candidate genes for autism. The animals have behavioral and neurobiological features reminiscent of autism, researchers reported 17 December in Molecular Autism.
Autism may be the result of faulty wiring that occurs during early brain development, according to two independent studies that looked at the origins of circuit disruption.
Mice lacking a gene located in the chromosomal region 22q13 — which has been linked to autism — have motor learning and social deficits reminiscent of the disorder, according to unpublished findings presented in a poster session yesterday at the Society for Neuroscience meeting in Chicago.