Melissa Parisi, M.D., Ph.D. Assistant Professor of Pediatrics Research Affiliate, Center on Human Development and Disability mparisi@u.washington.edu 206-987-2689 University of Washington, Box 359300, M2-9 Seattle, WA 98195-9300

Dr. Parisi's primary research focus is on developmental disorders of the cerebellum, particularly Joubert syndrome, an autosomal-recessive condition whose features include hypotonia, developmental delay, and abnormal breathing patterns or eye movements or both. She is involved in efforts to understand the genetic and molecular basis of Joubert and related cerebello-oculo-renal conditions, and to explore the biologic basis of cerebellar development.

Current research projects are aimed at improved clinical ascertainment and classification of this complex and pleiotropic group of disorders involving multiple organ systems. Parisi and colleagues are engaged in efforts to identify genes that cause Joubert syndrome utilizing SNP microarray analysis of DNA samples from consanguineous families in order to identify genomic regions that harbor disorder-causing genes. She is interested in developing genotype-phenotype correlations in Joubert syndrome and related disorders in order to provide predictive information for families whose children have this diagnosis due to a specific genetic defect. Her research also involves neuroimaging techniques in functional MRI, diffusion tensor MRI, and related methods to identify functional differences between individuals with different types of congenital malformations of the posterior fossa.

University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 • chdd@u.washington.edu

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