Team McCallum

R&D for Lifetime of Life

Autism: many new genes found.

Hundreds of scientists across North America and Europe have published a letter in the journal Nature, detailing their work to find more genetic patterns involved in autism.

Autism, and related disorders is considered to be approximately 90% due to inherited genetic patterns, yet there were few genes currently known to be involved, and these gave only a partial explantion.

The team looked for rare variations (occurring less than 1% of the time) in around 1,000 people with autism, and comparing this to nearly 1,300 controls without. In this instance, all the people studied were of European ancestry.

Many of the differences could be attributed to the currently known genetic variations. However, the team discovered many new genetic variations that were linked, including SHANK2, SYNGAP1, DLGAP2, DDX-PTCHD1 and others.

Apart from considerably expanding knowledge as to the mechanisms involved in autism and extending the number of potential targets for treatment, the work shows that the genetic pattern is highly variable from individual to individual. This suggests that a way forward may be by genetic testing to determine which suset is involved for a given patient, leading to more personalised and more effective treatment.

The team will continue the work over the next two years, and think this might expand the culprit variations to over 250 possibilities.


June 10, 2010 - Posted by | Autism, Genetics, Science

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