Uncovering a Common Mutation

Very interesting information:

In a study published online in the Annals of Human Genetics, Margaret Pericak-Vance, Ph.D., John T. Macdonald Professor and director of the Miami Institute for Human Genomics at the University of Miami Miller School of Medicine, searched for small genetic variants associated with ASD.

Uncovering a Common Mutation

The symptoms are gradual and insidious. An infant or toddler begins to withdraw from social interaction and to take refuge in solitary, often repetitive behaviors. As the months and years pass, the child becomes increasingly difficult and unresponsive—and another family is devastated by the effects of autism.

Autism and autism spectrum disorders (ASD) affect an estimated one in 150 U.S. children. While rare genetic mutations are known to increase the risk of such conditions, UM researchers recently identified common gene mutations that could also play a role.

In a study published online in the Annals of Human Genetics, Margaret Pericak-Vance, Ph.D., John T. Macdonald Professor and director of the Miami Institute for Human Genomics at the University of Miami Miller School of Medicine, searched for small genetic variants associated with ASD. Data gathered from 438 families with autistic children were validated with findings from another 487 affected families. The multi-center study included investigators from more than a dozen sites and more than 10,000subjects.

Assembling the Autism Puzzle

The findings from the breakthrough study, published online April 28 by the journal Nature, may implicate a gene involved in forming the connections between brain cells.

As many researchers continue to do more research about Autism, we continue to know more as time goes on.

Cindy Papale