Jonathan Sebat, PhD, assistant professor of psychiatry and cellular and molecular medicine at the UC San Diego School of Medicine has received the 2012 Roche and Nature Medicine Award for Translational Neuroscience. He was honored today at a symposium in Switzerland.
The award highlights young researchers who have made innovative and ground-breaking scientific discoveries in the field of translational neuroscience, especially related to autism spectrum disorders.
Sebat is being recognized for his work in better understanding the genetics of autism. Specifically, he, Michael Wigler of Cold Spring Harbor Laboratory and colleagues discovered that rare spontaneously occurring copy number variants are strongly associated with autism.
“This discovery was a key turning point in autism genetics and has now focused attention squarely on rare genetic variants, and spontaneous mutations in particular,” Sebat said.
Since the 2007 paper, researchers have made rapid progress in identifying individual mutations that confer high risk of disease, including autism.
Sebat, who is also chief of the Beyster Center for Molecular Genomics of Neuropsychiatric Diseases and a member of the Institute for Genomic Medicine, both at UC San Diego, has also made key discoveries in schizophrenia, including the fact that schizophrenia and autism share some of the same genes.