AUTOSOMAL DOMINANT CATARACTS

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Cataract is the most common cause of blindness worldwide. One class of cataracts is hereditary cataracts that are inherited in an autosomal dominant fashion. Research in the PI's laboratory has focused on identifying gene loci and the specific mutations therein that are responsible for autosomal dominant cataracts. In this proposal the PI will continue efforts to identify new families with autosomal dominant cataract and by linkage analyses continue mapping loci that segregate with the disease in existing and newly identified families and, through genome wide screens, to determine if the loci are known or newly identified. Further studies will identify new loci and/or determine the specific mutations in the affected genes. If the mutation is new experiments are proposed to test the validity of the hypothesis that the mutation is causative for the ADC by determining if the mutation causes cataracts in transgenic mice.