A Drug-Screening Platform for the MECP2 Duplication Syndrome Using Human Neurons

Alysson Renato Muotri, PhD | University of California San Diego

$792,000 AWARDED

The unavailability of live human brain cells for research has blocked progress toward understanding mechanisms behind neurological disorders. A human stem cell model, using reprogrammed patient cells offers an attractive alternative as it captures the patient’s genome in the relevant neural cell types. In 2010, Dr. Muotri’s group has shown that neurons derived from Rett Syndrome patients displayed several morphological and functional abnormalities that could be reversed using candidate drugs. Last year, they generated stem cell-derived “mini-brains” from patients with MECP2 duplication syndrome and found a candidate drug that could rescue altered neuronal network activity. With RSRT support, the team will now engineer human stem cells with different MECP2 doses to screen a larger library of drugs and perform pre-clinical studies in animal models to validate potential candidates.

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