Autism and Rare Variants

Autism is a mysterious disorder that affects approximately 1% of children, and before the human genome was sequenced very little was known about the genetic basis of it.  The last few years have included remarkable progress on our understanding of autism, but there’s still much scientists and clinicians don’t understand.

In a new study released today in the journal Science, researchers from UCSD, Human Longevity, Inc. and other partner organizations reveal a significant discovery: rare variants passed through fathers contribute to autism.  This understanding was made possible through the power of whole genome sequencing plus world class bioinformatics science and analysis.

Autism occurs in 4:1 males, but the hypothesis has been that any inherited variants are more likely to BE passed down from the mother, because if the father was a carrier he would himself likely be autistic, and parents themselves are typically unaffected.

The scientists uncovered an association in the non-coding regions of the genome, that makes up 98% of the genome and guides the behavior of the other 2%, and the impact of rare variants on a series of genes in men.

Such studies will better inform medicine and family planning, where pre-screening for such rare variants with high effect could be predictive.

Read more here about Autism study