The biochemist Ricardo E. Dolmetsch has pioneered a major shift in autism research, largely putting aside behavioral questions to focus on cell biology and biochemistry.
Dr. Dolmetsch, 45, has done most of his work at Stanford. Since our [NYT] interviews — a condensed and edited version of which follows — he has taken a leave to join Novartis, where his mission is to organize an international team to develop autism therapies.
“Pharmaceutical companies have financial and organizational resources permitting you to do things you might not be able to do as an academic,” he said. “I really want to find a drug.”
Q. Did you start out your professional life studying the biochemistry of autism?
A. No. In graduate school and as a postdoc, I’d done basic research on the ion channels on the membranes of cells. By my mid-20s, I had my name on some high-profile papers.
Then, around 2006, my son who was then 4 was diagnosed with autism. We had suspected it. He didn’t talk much, was hyperactive, very moody. He assembled huge towers based on the color spectrum. He did all sorts of things that were very unusual.
Given the signs, why did you wait that long to seek a diagnosis?
I’m from Latin America [Cali, Colombia], and my Latin thing was, “This is the way boys are.” But he would just scream for hours and hours, uncontrollable. He didn’t sleep. We didn’t understand it. After a while, his teachers said, “You probably ought to have him seen.” So we went to a psychiatrist and neurologist and ultimately we got differing diagnoses.
This is how child psychiatry is: It is diagnosis by questionnaire. If you go to a different specialists, you get different answers.
Autism, it turns out, is a whole bunch of diseases, clumped into one big group. After many confusing months, we finally heard “autism.” My response immediately was: “We’re not going to leave any stone unturned to help him.”
It turned out, however, that there weren’t many medical things to be done. There are behavioral approaches which can improve things, though none are a cure. Once we understood this, I started really changing the direction of my lab to things more directed towards autism and neurodevelopmental diseases. These include childhood epilepsy, fragile X syndrome and schizophrenia. Continue reading NYT: Seeking Autism’s Biochemical Roots