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SPARK's role in autism research

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Breakthroughs in autism research
Gerald Fischbach Scientist
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In my years as chief scientist at the foundation, I felt that I learned a tremendous amount, as much as I did in any of the other positions I had. It was right up my alley, my area of interests, what is the human brain after all? What is the mind? And there's nothing better than autism to think about that, when you interact with an individual who is withdrawn from normal communication. You know it immediately and you begin to wonder, is this localized in the brain? Is it a multi-system disorder?

You just have to hope that there are breakthroughs at that level, beyond the genes. The genes may give you a clue, but the other aspect is there are many related disorders, it's not just autism. In the fifth edition of the Diagnostic and Statistical Manual that psychiatrists put together, there's the Autism Spectrum Disorder as a diagnosis, as well as autism. So, what is this autism spectrum? Well, there are things that do include movement disorders, hyper-anxiety and several other related disorders, which never would've been lumped with autism before, but some of which are single gene mutations which should be pursued.

They do offer specific targets, sodium channels for animal models. I've gotten more and more optimistic with time, not less and less, and I think we're about the see some breakthroughs. I love the idea of looking at newborn children, if there are ways to predict with some accuracy which newborn is going to be autistic. That will be a huge leap forward. What people have found, though, is it's not going to be easy. That instead of 5%, maybe 20% of [male] newborns with some indication will become autistic, so it's not a negligible percentage. But how do you manage that clinically, especially if you want to start on therapeutics? And if it's only 20% and the therapies are not innocuous, it raises huge ethical issues, as well as science. I'm eager to keep in touch and to voice my opinion when I hear specific ideas.

Gerald Fischbach (b. 1938) is an American neuroscientist and pioneering researcher. He pioneered the use of nerve cell cultures to study the electrophysiology, morphology and biochemistry of developing nerve-muscle and inter-neuronal synapses.

Listeners: Christopher Sykes

Christopher Sykes is an independent documentary producer who has made a number of films about science and scientists for BBC TV, Channel Four, and PBS.

Tags: Diagnostic and Statistical Manual

Duration: 4 minutes, 11 seconds

Date story recorded: July 2023

Date story went live: 16 May 2025