Скачать или смотреть Gerald Fischbach - Understanding autism (50/75)

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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. [Listener: Christopher Sykes; date recorded: 2023]

TRANSCRIPT: Every scientist in the SFARI project who came to our meetings and got to know Jim and Marilyn developed great respect for them and, through them, for me, so I'm grateful for that. I've never been at a more joyful organization than the Simons Foundation. It's more than a job, it's a life enthusiastic validation of what we're doing. The initial problem of autism is a huge concern, not just on their personal level, but nationwide, worldwide, what is this disorder that begins very early at life? And it's not clear.

There are very good clinicians that came in to work with us, Catherine Lord, who's now in California, and her students, who had a good understanding of autism and a great feeling for therapeutics. We have made some progress, but there are still huge gaps in our understanding and in therapeutics. There are now more than 100 high-risk gene candidates that we have in the gene database, probably more than 150 by now, but we still don't have a mechanism, let alone therapeutic.

There's some hint that therapeutics related to excessive excitatory input, the EI balance, but that doesn't get you very far. It's almost as vague as autism is a 'synaptopathy'. What? No kidding. But some people write that in their reviews, autism has something to do with the brain and with synapses. I have a pretty crass response to that. There are new diagnostic tools. Cathy Lord was at the center of developing a clinical evaluation. There are now other forms of evaluation, wearables, wrist watches, etc., which can measure autonomic tone. Which if applied to children, infants before they can speak and say what's bothering them, may have a real application. And that's all being thought about now.