The purpose of this clinical core is to collect and store skin fibroblasts, from patients with sporadic and familial Parkinson's disease (PD) and from healthy age-matched controls, destined for future genetic, epigenetic, and stem cell reprogramming investigations. Serge Przedborski will direct this effort, including selection of the potential subjects and supervising collection of relevant clinical information. Carol Moskowitz will obtain informed consent, perform the skin biopsy and draw blood for genotyping. We anticipate performing approximately 180 skin biopsies per year based on our average number of PD patients seen at our outpatient clinic (2,922 patients/yr of whom 422 are new patients) and on Carol Moskowitz's prior recruitment rate for other projects involving skin biopsy. Samples will be processed in Serge Przedborski's laboratory according to standard protocols and stored in a long-term liquid nitrogen tank. Lorraine Clark will genotype all blood samples for known PD mutations and associated SNPs in the following genes: alpha-Synuclein, Parkin, DJ-1, PINK1, LRRK2, UCHL1, ATP13A2, GIGYF2, GBA, MAPI and APOE. Aliquots of cell lines will be made available to both inside and outside investigators. To request aliquots, a Web-based formal request procedure similar to the New York Brain Bank at Columbia University will be developed and posted on the PD-DOC website. In case of high demand for limited samples, preference will be given to the members of the Udall Center network.

Public Health Relevance

(Seeinstructions): Skin cells may harbor important information regarding the cause and mechanism of Parkinson's disease. By collecting such samples from thoroughly characterized patients and making these samples available to the research community, this Core provides a service important to public health and scientific advancement.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
5P50NS038370-15
Application #
8546454
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Project Start
Project End
Budget Start
2013-08-01
Budget End
2014-07-31
Support Year
15
Fiscal Year
2013
Total Cost
$166,070
Indirect Cost
$62,921
Name
Columbia University (N.Y.)
Department
Type
DUNS #
621889815
City
New York
State
NY
Country
United States
Zip Code
10032
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