Sita Reddy

 Ph.D.

Associate Professor

Keck School of Medicine
Department of Biochemistry and Molecular Biology
Institute for Genetic Medicine

The overall objective of Dr. Reddy’s research is to determine the molecular basis of the pathology observed in myotonic dystrophy (DM). Her research interest lie in the study of the etiology of DM using mouse models and in defining the replication and repair pathways underlying microsatellite instability, with special reference to CTG repeat instability. DM is an autosomal dominant neuromuscular disorder characterized by myotonia, progressive wasting of skeletal muscle, cardiac conduction defects, mental retardation and cataracts. The genetic basis of DM is the expansion of a CTG repeat in the 3’-untranslated region of a putative protein kinase (DMPK). She has used gene targeting to develop DMPK deficient mice (DMPK-/-) which develop a late onset, progressive skeletal myopathy and accompanying muscle weakness that resemble the pathophysiology observed in DM patients. Drs. Reddy, Goodman and Arnheim share similar overarching interests.

 

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