Pioneering Work

Pioneering work in big data for autism research and treatment

The choice to have Dr. Geschwind lead the institute was apt, given his pioneering work to understand the genetic underpinnings of autism spectrum disorders (ASD). In 2001, Geschwind, then a UCLA professor serving as scientific advisor to Cure Autism Now (now known as Autism Speaks), helped launched a project called the Autism Genetic Resource Exchange (AGRE), a biobank that over the next decade would collect >10,000 DNA samples for genome sequencing from children with ASD and their families.

"Since then, we and others have identified 200 bona fide autism risk genes, half of them strong candidates and the other half representing possibilities," says Geschwind. "Ten years ago we knew none of them." Geschwind's lab at UCLA has played a major role in these discoveries, and has done important work to take these discoveries forward to develop a new understanding of individuals with ASD.

"You can end up in the ER for a heart attack caused by factors like high cholesterol, high blood pressure or diabetes. But for things like depression and autism, there is not yet a causal equivalent of high blood pressure. Our first task is defining the genetics, which will lead to understanding the cause and mechanisms of these devastating diseases." Daniel Geschwind, Director of the Institute of Precision Health

Autism Spectrum Disorders (ASD)

These findings have transformed both the research and clinical fields. Now, genetic testing, including chromosomal microarray and exome sequencing is a first line diagnostic in ASD, as we can make a genetic diagnosis in nearly 20% of patients, and this number grows every few months. Diagnosis using sequencing to identify the specific genetic basis of ASD in an individual is a prime example of precision medicine.

Geschwind’s lab and other colleagues at UCLA are using this combination of genetic tools, and neurobiological investigations with the goal of revolutionizing our understanding and treatment of neurological and psychiatric disorders.

UCLA's institute for precision health will once again put UCLA at the forefront of innovation. The Institute provides infrastructure to support these kinds of "big data" approaches and serves as a resource for researchers and physicians campus-wide who are developing their own precision health projects. The Institute is focused on the collection, generation and integration of genomic information with clinical data from hundreds of thousands of patient across the UCHealth system. A key element of this endeavor is providing researchers with access to bioinformatic tools, which are absolutely essential to analyzing these big data. The long-term goal will be to partner with other academic institutions in Southern California and provide these integrated services to a greater number of researchers and clinicians.