We have initiated molecular genetic screening for several genetic disorders including Familial Hypertrophic Cardiomyopathy, Hypohidrotic/Anhidrotic Ectodermal Dysplasia, Phenylketonuria, Farber Disease, beta Thalassemia, Maple Syrup Urine Disease, 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 catalogued several mutations, related to disorders mentioned above, that appear to affect the gene transcript rather than the expressed protein. 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.