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 # affected individuals per family # pedigrees approved % of pedigrees approved 247455.4 323627.6 48710.2 5283.3 6121.4 7 or more182.1 45% of pedigrees approved have 3 or more affected individuals

7. NIA Genetics Initiative Families

8. Samples at NCRAD as of 9/15/05 SITEFAMILIESSAMPLESSAMPLES WITH MDSSAMPLED PEDIGREES BU1470639 COLUMBIA6448247453 DUKE2392 24 MGH1337358 INDIANA4228824219 MAYO8840740257 MT. SINAI1440 4 NORTHWESTERN622190 OREGON2710710418 RUSH1232290 UCLA20676513 KENTUCKY18116 10 PENN2174 14 PITT17615913 UTSW2516816724 U WASH4715313816 WASH U4530029543 UAB1462490 USC51290 NCRAD417 0 TOTALS51926072489325

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 Race/ethnicity# of indMaleFemale White22868631423 Black772552 Asian or Pacific Islander1789 Other17710 Not coded1235271 Missing/unknown532 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.