An important genetic finding in autism landed at number seven in TIME Magazine's "Top 10 Medical Breakthroughs of 2009." Autism Speaks' Autism Genetic Resource Exchange (AGRE) was cited as an important resource in the study, which was published earlier this year in Nature. The spotlighted study, lead by Hakon Hakonarson, M.D., Ph.D, identified a genetic clue to autism: variations on a region of chromosome 5 appear to play a crucial role in about 15% of cases of autism. Working with AGRE – a DNA database of more than 2,000 families affected by autism, and the largest
genetic study of the disorder ever attempted – researchers, including members of the Autism Speaks-funded Autism Genome Project, zeroed in on variations in genes that code for proteins involved in forming connections in the brain. Differences in these particular genes are extremely common – present in more than half of healthy people – but they are even more common in people with autism, affecting 65%. "Autism Speaks is pleased to have facilitated this critical research, having provided both funding and access to thousands of DNA samples through AGRE," said Geraldine Dawson, Ph.D., chief science officer for Autism Speaks, and co-author of the study.
View TIME Magazine's Top 10 Medical Breakthroughs list here.
Read the original press release heralding these important studies here.