2 New Genetics Studies

by Kristina Chew · 2009-06-26 14:24:00 UTC
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DNA sculpture at the Lawrence Hall of Science from http://arch.ced.berkeley.edu/kap/images/lhsdna0.jpg
More findings about the genetics of autism from researchers at the Children's Hospital of Philadelphia and the University of Pennsylvania Medical School, among others. Like recent previous studies, these new findings have found de novo (spontaneous, vs. inherited) deletions or duplications that affect the "brain circuitry'''---synaptic functioning---in early childhood. Some 27 different genetic regions with rare copy number variations---missing or extra copies of DNA segments---were found in autistic children, but not in controls.

From a press release:

The researchers compared genetic samples of 3,832 individuals from 912 families with multiple children with ASDs from the AGRE cohort against genetic samples of 1,070 disease-free children from The Children's Hospital of Philadelphia. This study also uncovered two novel genes in which variations were found, BZRAP1 and MDGA2 – thought to be important in synaptic function and neurological development, respectively. Interestingly, key variants of these genes were transmitted in some, but not all, of the affected individuals in families.

The findings are published in PloS Genetics (June 26).

Today's Scotsman reports on another study about genetics and autism and is quite a bit more upfront in suggesting that these findings could lead to some sort of (drug) treatment for autism:

Scottish scientists have paved the way for potential new treatments for autism after discovering a link between the condition and abnormalities in a gene important for learning and memory.

The link was established by researchers at Aberdeen University following a study of four children with severe autism in the North-east of Scotland. They discovered that the children each had a rare re-arrangement of chromosomes that had disrupted a gene known as EIF4E.

This study is published in the Journal of Medical Genetics.

But maybe talking about treatment from the findings is a bit too soon---and are we ready for it? (I think not; some previous thoughts on genetics and acceptance, and another on eugenics, fear, and pain).

Kristina Chew
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