Skip to content

Inspired by his autistic son, a Stanford researcher works to understand the biochemistry of autism

dolmetschIn a Q&A published today in the New York Times, Stanford neurobiologist Ricardo Dolmetsch, PhD, tells reporter Claudia Dreifus that his immediate reaction to learning his son was diagnosed with autism was, "We’re not going to leave any stone unturned to help him."

Leaving no stone unturned included changing the focus of his research to better understand the biochemistry of autism and leading an effort to create a technique that involves reprogramming skin cells from autistic children into neurons. As reported previously on Scope, this approach allows scientists to better study brain function in children with autism.

Dolmetsch, who is currently on leave from Stanford and working at Novartis, tells Dreifus that his main goal is to develop new pharmaceutical therapies for autism. When she asked him how he identifies patients to participate in his research, he responded:

Through social media. We’re often interested in groups or families who have specific kinds of mutations. Some of them are rare — 5,000 people worldwide.

So we have a committee that decides what’s the next mutation we’re going to work on. Then we find children with it. It used to be we’d spend half of our budget locating people. Now, we go to the families with a Facebook page for people with X, Y, or Z mutation. Then I’ll post a call. Parents will come forward.

The aim is to develop a database of the mutations we think are causative of the neuropsychiatric diseases. If we can get samples through stem-cell-derived neurons and create a library of them, we could change the way the diseases are diagnosed.

Previously: Using stem cells to advance autism research, Stanford Magazine spotlights scientists’ efforts to untangle the root causes of autism and Research on autism is moving in the right direction
Photo by Steve Fisch

Popular posts

Category:
Genetics
Sex biology redefined: Genes don’t indicate binary sexes

The scenario many of us learned in school is that two X chromosomes make someone female, and an X and a Y chromosome make someone male. These are simplistic ways of thinking about what is scientifically very complex.
Category:
Nutrition
Intermittent fasting: Fad or science-based diet?

Are the health-benefit claims from intermittent fasting backed up by scientific evidence? John Trepanowski, postdoctoral research fellow at the Stanford Prevention Research Center,weighs in.