Biotech Updates

Geneticists Identify Genes Associated with Neurodevelopmental Disorders

April 27, 2012

Thirty-three genes linked to autism, related disorders, and other psychiatric conditions such as schizophrenia have been identified, of which 22 of which are identified for the first time.

Dr. James Gusella, director of Massachusetts General Hospital Center for Human Genetic Research (MGH CHGR) reported that by sequencing the genomes of the group of children with neurodevelopmental abnormalities (including autism) they have identified the exact points where the DNA strands of these subjects have been disrupted and segments exchanged within or between chromosomes. The result of the genome sequencing resulted to their discovery of a series of genes that have active individual impact on the mentioned disorders. They also found that these genes play important roles in various clinical situations that even the slightest change in them can cause severe intellectual disabilities and psychiatric conditions.

This new way of studying human genes was developed by Dr. Michael Talkowski, also from MGH CHGR, lead author of the Cell paper. The new approach allows the gene sequencing to identify the breakpoints of balanced chromosome abnormalities (BCAs), which are occurrences in the chromosomes wherein DNA segments are moved into different locations in the same chromosome or exchanged with segments in other chromosomes, leaving the chromosome size unaffected. This new method has been proven to be faster than their previous method for completing the study that formerly requires months for less than two weeks. This method identified 33 genes associated with autism and other neurodevelopmental disorders, only 11 of which are previously suspected to affect the mentioned disorders.

Dr. Gusella, Bullard Professor of Neurogenetics at Harvard Medical School said that this is a first step towards further identification and understanding of neurodevelopmental disabilities and psychiatric disorders and towards the development of new clinical treatments.