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New genetic models of autism point to cellular roots of disease

Researchers at UC San Francisco have developed a new genetic model of autism, using neurons created in the lab from patients’ own skin cells. Their experiments suggest that abnormalities in the electrical firing of neurons may lead to behavioral and developmental symptoms in autism, while differences in neuron size and shape result in abnormalities in brain size that often accompany the disorder.

Scientists in the laboratory of Lauren Weiss, PhD, an associate professor of psychiatry and member of the Institute for Human Genetics at UCSF, looked at genetic mutations that cause either the deletion or duplication of a region of DNA on chromosome 16 that includes 29 genes implicated in important cellular functions in the brain. (Ordinarily, there are two copies of every gene, one on each chromosome, but deletions or duplications result in either one copy or three copies of the genes, respectively.)


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https://www.ucsf.edu/news/2017/12/409201/new-genetic-models-autism-point-cellular-roots-disease
Date
5th December 2017
Source
UCSF