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The focus of research in the Raskind laboratory is to identify and study genes responsible for human inherited disorders, both simple and complex. Raskind and colleagues investigate a variety of neurogenetic disorders, including dystonias, myokymia, myopathies, and ataxias. Probands are ascertained, families are recruited, and linkage analyses are carried out. After the location of the gene responsible for the disease is mapped and the interval containing the gene is narrowed, candidate genes are prioritized and evaluated for mutations. Recently, Raskind and colleagues have discovered that mutations in a serine/threonine kinase gene (protein kinase C gamma) are responsible for an autosomal dominant spinocerebellar ataxia (SCA14). As part of a broad approach to understanding this disease, in-vitro functional assays and creation of mouse models are underway.
In addition to diseases that are inherited in a “simple” Mendelian fashion, Raskind studies behavioral disorders that have complex inheritance patterns. In particular, she is investigating the genetics of dyslexia and related learning disabilities. Phenotypes are targeted on the basis of performance on tests that evaluate reading, writing, and spelling ability, as well as those that assess executive function. Multigenerational families are being studied to characterize, model, and map genetic subtypes of dyslexia.
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