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Скачать или смотреть Gerald Fischbach - Simons Simplex Collection (61/75)

  • Web of Stories - Life Stories of Remarkable People
  • 2025-05-16
  • 11
Gerald Fischbach - Simons Simplex Collection (61/75)
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Описание к видео Gerald Fischbach - Simons Simplex Collection (61/75)

To listen to more of Gerald Fischbach’s stories, go to the playlist:    • Gerald Fischbach (Scientist)  

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: The other major issue, beside my own lab when I moved to the NIH, was Parkinson's disease. I was director of the National Institute of Neurological Disorders. We had very good relations with at least three other institutes – child health, mental health, and aging. Together we put together a Parkinson's program. I think I triggered the writing of it, it came to $1 billion, and Congress passed it. It's had a significant impact on therapy and our understanding of the disease. It's not a cure, by any means, but it's a long ways on the way.

Then after the NIH, when I moved to New York, I became consumed with autism – and consumed in a good sense. It triggered many of the things I was interested in: early development, plasticity, reversibility of disorders, organizing a team. We organized 12 different centers. Actually 13, but one was eliminated, so we ended up 12 medical centers around the country that started the Simons SSC, the Simons Simplex Collection. Which meant collecting simplex families, that is a family with one proband, at least one sibling who was not affected, and two biological parents who were not affected. Thinking, and it turned out to be true, that the one sibling might have a genetic defect that set him or her apart from the other family members. That's what the meaning of Simons Simplex Collection is. We collected over 2,000 families, small numbers when you consider what's going on with SPARK, where they're up to 50,000.

But there's a difference and the difference is very important, I think. Our evaluation of these individuals involve detailed phenotypic evaluation. I enjoy that, I learned a tremendous amount. It brought back a lot of clinical memories of mine. But the evaluation was several hours long, where both parents and the children were evaluated in great detail. Verbally, with some measurements, eye measurements, a lot of different evaluation forms, which took time to deliver and skill.

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