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Learning disabilities
Learning disabilities affect 1 in 5 people world-wide, but to date there are no treatments. To uncover the causes and develop treatments for this cluster of disorders we started by studying single gene inherited conditions associated with learning disabilities and mental retardation, including Neurofibromatosis type I, Fragile X, Down syndrome,Tuberous Sclerosis, and Nooman's Syndrome. For example, specific learning disabilities are the most common neurological complication of children with Neurofibromatosis type I (NF1). The inherent complexity of these cognitive deficits, and the complications of pursuing their study in patients, motivated us to study them in mouse models for these single gene disorders causing learning disabilities. We have showed that mice mutant for the NF1 gene have very specific learning deficits with striking similarities to the deficits of children with NF1. Our biological studies of mice with NF1 have yielded a treatment for the learning deficits in mice, and we have initiated the complex process of determining whether the same approach can cure the learning deficits of patients with NF1.
Similarly, we have also studied the learning deficits associated with Tuberous Sclerosis (TSC). Recently, we have shown that an FDA approved drug (rapamycin) can reverse the molecular, physiology and learning deficits of an animal model of TSC. We are currently involved in a collaborative study to determine whetehr rapamycin is also effective in reversing the cognitive phenotypes associated with TSC.
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