1. The Alzheimer’s Disease Genetics Initiative: Multiplex Family Study October 1st, 2004 Toronto, Ontario Columbia University, NCRAD, and the National Institute on Aging

2. Consent form and MTA status All funded Centers have an approved consent form All funded Centers have an MTA in place for sending samples to NCRAD Several non-funded Centers have a consent form approved/under review –Northwestern –NYU –Vanderbilt –UCSD –Univ Michigan –UC Davis

3. Statistics

4. Pedigrees approved BOSTON UNIVERSITY30 COLUMBIA UNIVERSITY147 DUKE UNIVERSITY19 INDIANA UNIVERSITY28 UNIVERSITY OF KENTUCKY26 MASSACHUSETTS GENERAL18 MAYO CLINIC74 MT. SINAI13 OREGON HEALTH SCIENCES53 UNIVERSITY OF PITTSBURGH16 UNIVERSITY OF PENNSYLVANIA16 RUSH UNIVERSITY7 UNIVERSITY OF ALABAMA10 UNIVERSITY OF SOUTHERN CA10 UNIVERSITY OF CA, LOS ANGELES19 UNIVERSITY OF TEXAS SOUTH WESTERN17 UNIVERSITY OF WASHINGTON52 WASHINGTON UNIVERSITY70 NCRAD30 NORTHWESTERN UNIVERSITY3 TOTAL PEDIGREES658 As of 9/24/04 658 pedigrees approved Last year: 205 pedigrees 453 pedigrees in a year! Not all pedigrees will be qualifying LOAD families

5. Pedigree characterization # affected individuals per family # pedigrees approved % of pedigrees approved 235453.8 318528.1 47611.6 5213.2 691.4 7 or more132.0 46% of pedigrees approved have 3 or more affected individuals

6. d.29 d.66 d.8d1y d.? d.84 d.25 d.21d.71d.76d.58d.79d.infd.76 d.75 AAO64 d.65 d.68 AAO63 d.68 91 AAO73 CL 8987d.inf d.93 AAO70 CL d.80 d.87 AAO74 CL d.87 AAO79 CL 96 CL d.62d.82 AAO79 d.76d.85 AAO82 CL d.79 AAO77 CL d.68 86 CL 85 CL 83 CL d.83d.79 d.76 AAO70 CL 75 AAO60 CL d.70 CL A A AA AAA BCR 9/27/04 CL=cell lines A=autopsy PD=Parkinson’s Disease 8 sampled affecteds; 5 sampled unaffecteds 6 sampled with autopsies A Gorgeous Pedigree

7. Samples at NCRAD as of 9/24/04 SITEFAMILIESSAMPLESSAMPLES WITH MDSSAMPLED PEDIGREES BU1876319 COLUMBIA6544041917 DUKE1544430 MGH1739303 INDIANA291931240 MAYO602321718 MT. SINAI1632203 NORTHWESTERN2200 OREGON2764320 RUSH3620 UCLA1644233 KENTUCKY1297700 PENN1247459 PITT1552353 UTSW1674550 U WASH31107464 WASH U412379929 UAB1355210 USC41000 NCRAD1034320 TOTALS4221885129888

8. Samples at NCRAD: Progress October 2003 –107 families –378 samples –No data October 2004 –422 families –1885 samples –1298 samples with MDS 315 families enrolled in a year

9. Collaboration between sites Collaborating Center# individuals seen University of Pennsylvania1 University Texas Southwestern6 University of Pittsburgh5 Columbia University12 University of California Los Angeles1

10. Ethnicity of sampled individuals Race/ethnicity# of indMaleFemale Hispanic893158 White1180451729 Black471532 Asian or Pacific Islander514 Missing/unknown413 89% of sampled individuals are White

11. Recruitment efforts

12. ADEAR efforts Genetics Study brochure: 3rd printing of 10,000. Most requests from ADCs Presence along with NCRAD at Alzheimer’s Association Education Conference/International Research Conference North American Precis Syndicate (NAPS): potential of reaching 15-20 million readers

13. LOAD media coverage TIME magazine NBC Nightly News Indianapolis Star Seattle Times Philadelphia Fox News AARP

14. NCRAD Referrals SITE# FAMILIES REFERRED BY NCRAD NCRAD43 COLUMBIA34 MAYO R.8 MAYO J.12 WASH U22 DUKE7 NORTHWESTERN4 PITT15 OREGON5 MGH3 BU8 IU28 U WASH4 KENTUCKY1 PENN7 UTSW13 MT. SINAI5 UCLA5 UAB2 USC1 227 families referred - 17 no longer qualify - AARP: 18 - Nightly News: 18 - Newspaper articles: 56 - Unknown: 80 - Other: 55 Centers also need to advertise on their own

15. Minimum Data Set (MDS) and data cleaning

16. MDS 9 “required for all” variables –IDs, sex, sampled 17 “required for sampled” variables –Demographics –Diagnostic information –Evaluation method

17. Data cleaning Immediate Data can’t be imported unless “required for all” variables coded Family ID and individual ID must be unique Between data calls “Required for sampled” and other conditional variables must be coded Logic checks LOAD sampled pedigree reports List of qualifying and DNQ families