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The focus of research in Dr. Raskindʼs laboratory is to identify and study genes responsible for neurobehavioral disorders. Raskind investigates a variety of Mendelian neurogenetic disorders, including spastic paraplegia, movement disorders, and ataxias, in a large family set collected over more than 3 decades. She uses multiple gene localization techniques combined with exome sequencing and bioinformatics to identify candidate genes for further assessments. Supportive evidence for the pathogenicity of the gene is sought through cosegregation studies in the relevant families and screening the gene in other subjects who may have the same disorder. Many types of functional studies in cell lines and model organisms to investigate the effect of the mutation on gene function and to delineate steps in the pathogenesis of the disease are performed. Our lab previously discovered that spinocerebellar ataxia type 14 is caused by mutations in protein kinase C gamma and we are now studying pathologic differences related to different mutations in mouse models of SCA14 that our lab generated. More recent gene discoveries include ADCY5 for an early childhood onset heterogeneous movement disorder, ATP6AP2 for an early onset syndrome of spasticity with parkinsonism, and SAMD9L for an early onset syndrome of ataxia and bone marrow failure.
In addition to Mendelian disorders, Raskind studies the genetics of dyslexia. She is using a combination of linkage analysis and genomic sequencing to identify genes that contribute to the risk to develop this common heterogeneous disorder.
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