We are performing molecular genetic analysis of several genetic disorders including Hypohidrotic/Anhidrotic Ectodermal Dysplasia, Phenylketonuria, Farber Disease, Maple Syrup Urine Disease, beta Thalassemia, Familial Hypertrophic Cardiomyopathy, etc. The work has revealed a unique mutation profile among Indian patients. Ours is one of only four laboratories worldwide working on molecular characterization of mutations causing Farber disease. More importantly, we have identified transcript perturbing mutations to be a major cause of autosomal recessive genetic disorders. Work is currently underway to characterize these mutations in order to improve our understanding of basic cellular phenomenon including nuclear splicing and nonsense mediated decay.