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Genetic registry SPARK scores first victory by pinpointing new autism-linked genes

| | October 10, 2019

An analysis of genetic sequences from nearly 500 people with autism and their relatives has linked 13 new genes to the condition. It has also uncovered a genetic cause for autism in about 10 percent of the autistic participants.

The results are the first to emerge from SPARK, launched in 2016 to collect genetic sequences and other information from 50,000 families that have at least one child with autism. (SPARK is funded by the Simons Foundation, Spectrum’s parent organization.)

SPARK researchers analyze DNA from mailed saliva samples and medical information participants provide.

In this study, the researchers analyzed exomes — the small portions of the genome that code for proteins. They linked 34 genes to autism with at least 80 percent certainty; of those, 21 had been identified by previous studies.

Related article:  Autism more closely linked an inability to 'read' other people than inflexible thinking and lack of self-control

Most of the 13 new candidates are active in brain regions, and at developmental times, that are implicated in autism.

The results should “give the community confidence that what we’re doing in SPARK is going to produce reliable, robust data,” says Wendy Chung, the project’s leader and professor of pediatrics and medicine at Columbia University.

Read full, original post: Genetic registry reaps bounty of new autism genes

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