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Alzheimer’s Disease Genetics Initiative: Multiplex Family Study

Alzheimer’s Disease Genetics Initiative: Multiplex Family Study. Jennifer Williamson Catania, MS Columbia University and NCRAD. Coordinator Update. LOAD Statistics. 855 Pedigrees Approved. Pedigrees approved 9/20/05. 855 pedigrees approved Last year: 658 pedigrees

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Alzheimer’s Disease Genetics Initiative: Multiplex Family Study

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  1. Alzheimer’s Disease Genetics Initiative: Multiplex Family Study Jennifer Williamson Catania, MS Columbia University and NCRAD

  2. Coordinator Update

  3. LOAD Statistics

  4. 855 Pedigrees Approved

  5. Pedigrees approved 9/20/05 • 855 pedigrees approved • Last year: 658 pedigrees • Not all pedigrees will be qualifying LOAD families • NCRAD families

  6. Approved pedigrees 45% of pedigrees approved have 3 or more affectedindividuals

  7. NIA Genetics Initiative Families

  8. Samples at NCRAD as of 9/15/05

  9. Qualifying/Non-Qualifying Families

  10. People and families with at least one sample at NCRAD Families = 519, People = 2,607

  11. Samples at NCRAD: Progress • October 2003 • 107 families • 378 samples • No data • October 2004 • 422 families • 1885 samples • 1298 samples with MDS • Fall 2005 • 519 families • 2607 samples • 2489 samples with MDS

  12. Ethnicity of sampled individuals 90% of sampled individuals are white

  13. Percent Affected Per Family

  14. Alzheimer’s Disease Subtypes

  15. Controls

  16. Minimum Data Set (MDS)

  17. MDS • 10 “required for all” variables • IDs, sex, sampled, visit • 17 “required for sampled” variables • Demographics • Diagnostic information • Evaluation method • Other variables • Cognitive testing, other medical conditions, autopsy

  18. MDS Import of data • Initial data imports have improved with all sites providing the “required for all” variables. Qualifying families • 3 sampled individuals, diagnosis, age of onset, age diagnosed Non-Qualifying families • Missing data, incorrect coding for sampled individuals • Missing sample

  19. Future Plans • Identify and recruit new families meeting NIA-LOAD criteria. • Recruitment of ethnic minorities. • Identify newly affected family members and appropriate unaffected members in participating families. • Develop standardized follow-up procedures. • Complete recruitment of 1000 controls and begin follow-up assessments.

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