The identification of gene mutations causing disease lends new insight into the pathogenesis 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 assessed 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 a region of linkage within chromosome 4 in a large in-bred PD family, a region containing a segregating haplotype on chromosome 3 in the blepharospasm family and a segregating haplotype on chromosome 17 in the dystonia family. In collaboration with Drs Wood and Perez-Tur we identified the gene LRRK2 which underlies PARK8 linked Parkinson's disease. THis has subsequently been shown to cause >1% of sporadic PD and >5% of familial PD.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Intramural Research (Z01)
Project #
1Z01AG000958-04
Application #
7327022
Study Section
(LNG)
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
2006
Total Cost
Indirect Cost
Name
Aging
Department
Type
DUNS #
City
State
Country
United States
Zip Code
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