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Animal Models for Phelan-McDermid Syndrome

NOVEMBER 29, 2014


SHANK3 has been linked to a rare genetic form of autism, called Phelan-McDermid syndrome.  Understanding the role of SHANK3 could have a significant impact on these conditions.

In this exclusive interview with Rare Disease Report, Hala Harony-Nicolas, PhD, Instructor at the Department of Psychiatry at the Icahn School of Medicine at Mount Sinai in New York, NY,  talks about the importance of having an animal model to study Phelan-McDermid syndrome. One model, which manipulates the SHANK3 gene in rats, is being used to study the animals' behavior, brain activity, and the underlying molecular mechanisms that could be affected by Shank3 deficiency.

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