The identification of gene mutations causing disease lends new insight into the patogenesis and etiology of the disorder under examination. In collaboration with NINDS and NHGRI we are performing a whole genome scan of families with a variety of neurological diseases. We are assessing two families with Parkinson's disease (PD), a large kindred from Columbia with Blepharospasm and a family with dystonia associated with pain. The genome wide scan in these families is being performed in collaboration with the linkage analysis core of LNG using a 5cM linkage panel and is currently 80% complete. Data management and analysis is being performed using a custom database and linkage interface designed by the bioinformatics and computational biology core of LNG. We have identified several genetic loci of interest and are currently validating these candidate regions via fine mapping and screening in other families with overlapping phenotypes
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