AVAILABILITY OF THE NIMH ALZHEIMER'S DISEASE GENETICS DATASET NIH GUIDE, Volume 24, Number 23, June 23, 1995 P.T. 34 Keywords: Genetics Senile Dementia Registries+ National Institute of Mental Health The National Institute of Mental Health (NIMH), recognizing the major public health implications of identifying genes responsible for severe neuropsychiatric disorders, has funded a multi-site Genetics Initiative. The goal of this Initiative is to establish a national resource of demographic, clinical, and genetic data from individuals with Alzheimer's disease (AD), schizophrenia, or bipolar disorder to aid researchers in defining the genetic bases for these disorders. This notice announces the availability on July 1, 1995 of clinical data and DNA from the NIMH AD Genetics Dataset to qualified investigators studying the genetics of Alzheimer's disease. As of May 31, 1995, the NIMH AD Genetics Dataset contained clinical data and DNA on 238 sib-pairs. The Alzheimer's disease genetics catalog will be available via Internet (http://nimh.sratech.com). Genotyping results will become available at a later date. Alzheimer's disease sib-pairs are identified via cooperative agreements to the University of Alabama at Birmingham, Johns Hopkins University, and Massachusetts General Hospital. Data being collected consist of clinical information, including demographics, symptomatology, and eventually autopsy data, which are being stored in a central Data Management Center, and genetic materials stored at the NIMH Cell Repository. These latter resources have been established through contract mechanisms. Data collection from AD sib-pairs and unaffected siblings has been coordinated among the three university-based Diagnostic Centers using an agreed-upon protocol that has included uniform assessments, extensive interview data on risk factors and medical history, and shared rules for extension of pedigrees through affected members. There have been two methods of ascertainment employed by each site. The first method is systematic, e.g., all patients evaluated within a clinical population are screened for the possible availability of a secondary proband within the family. The second method is opportunistic. This method uses several mechanisms to identify families: referral from other clinicians, contacting local AD associations, and media advertising. There is a preferential ascertainment scheme based on family structure, which is dictated by the methods of linkage analysis. The order of preference is (1) those families with living affected sib-pairs; (2) those families with one living affected sib and one deceased sib with recoverable tissue for DNA genotyping and with another living affected relative no more distantly related than biological first-cousins; (3) those families with a proband and an affected relative no more distantly related than biological first-cousins with living affected relatives in the line of descent; (4) same as 3 but with deceased affected relatives in the line of descent. These Centers have the ability to follow subjects longitudinally, track changes in diagnoses, and compare and update diagnoses by autopsy, thus avoiding false positives, a major pitfall to genetic studies. To be eligible for inclusion in the study, primary probands must meet NINCDS-ADRDA criteria for probable Alzheimer's disease on initial evaluation and show deterioration in cognitive function by longitudinal assessment or history for at least one year. The secondary proband must meet NINCDS-ADRDA criteria for probable or possible AD at the onset of disease and have evidence of progressive decline in cognitive function. One of the above must have a Mini-Mental State Examination score less than 27 and history of difficulties with activities of daily living. Families with evidence of bilineal inheritance will be noted. Probands with depression will be kept as subjects. Access to National Resource Data and DNA Clinical information and DNA will be distributed only to experienced, qualified investigators who are conducting research on the genetics of Alzheimer's disease and are associated with a recognized biomedical research facility. This NIMH Genetics Initiative clinical information and DNA obtained by the investigator cannot be transferred in any manner, with or without charge, to anyone outside the direct supervision of the principal investigator, without the express written permission from the NIMH Cell Repository project officer. Investigators may request grant funding and access to the clinical data and DNA by submitting a research grant application to NIMH for peer review using investigator initiated grant application mechanisms. If funding is not requested, contact Dr. Mary Farmer for information on how to obtain the AD clinical data and DNA. The cost of DNA for investigators not funded by an NIMH grant is $50 per 50 microgram vial. (DNA is shipped only in 50 microgram vials.) INQUIRIES For further information, contact: Mary Farmer, M.D., M.P.H. Division of Epidemiology and Services Research National Institute of Mental Health Parklawn Building, Room 10C-09 5600 Fishers Lane Rockville, MD 20857 Telephone: (301) 443-3774 FAX: (301) 443-4045 Email: MFARMER@AOAMH2.SSW.DHHS.GOV .
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