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Parkinson’s disease
I. Genetics:
- Family studies
- Led clinical part of the project that identified PARK1 (alpha-synuclein) as a PD-related gene. Continue to follow the affected family clinically.
- Described multiple other families with high-penetrance PD (inactive)
- Search for modifier genes that influence PD onset age in PARK1 families (GSTP1 allele effect published)
- Sib-pair and small family cluster studies
- Co-PI of GenePD, an international multicenter whole-genome search.
- Published multiple linkages to date, including an X-linked locus and a confirmation of our GSTP1 observation in pesticide-exposed patients
- Now initiating a whole-genome SNP analysis
- “Sporadic” PD
- Collecting repository of our group’s patients for genotype-phenotype correlation,
- including exogenous exposure data
- approx. 300 patients and 200 controls collected to date
II. Environmental factors:
- Have published case-control surveys (inactive), including the first observation that food high in vitamin E have a statistically protective effect
III. Clinical drug trials: Three in progress
- Progressive supranuclear palsy
- Devised and published a clinical rating scale. Continue to gather natural history and prognostic predictor data.
- Working on a convenient staging system
- Descriptive epidemiology: published first prevalence study of PSP (inactive)
- Etiologic risk factors
- Published the only two case-control surveys to date
- Working on dietary case-control survey
- Collecting blood samples for phenotype-genotype analysis (in 1-a-3-I, above).
- As Research Director for the Society for PSP, I provide administrative oversight for a Whole-Genome Analysis of PSP that is starting soon and will use autopsy-confirmed DNA samples. If the project later extends to clinical samples, I will probably lead that clinical effort as an investigator.
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