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

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

Statistics

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/ pedigrees approved Last year: 205 pedigrees 453 pedigrees in a year! Not all pedigrees will be qualifying LOAD families

Pedigree characterization # affected individuals per family # pedigrees approved % of pedigrees approved or more % of pedigrees approved have 3 or more affected individuals

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 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 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

Samples at NCRAD as of 9/24/04 SITEFAMILIESSAMPLESSAMPLES WITH MDSSAMPLED PEDIGREES BU COLUMBIA DUKE MGH INDIANA MAYO MT. SINAI NORTHWESTERN2200 OREGON RUSH3620 UCLA KENTUCKY PENN PITT UTSW U WASH WASH U UAB USC41000 NCRAD TOTALS

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

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

Ethnicity of sampled individuals Race/ethnicity# of indMaleFemale Hispanic White Black Asian or Pacific Islander514 Missing/unknown413 89% of sampled individuals are White

Recruitment efforts

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 million readers

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

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

Minimum Data Set (MDS) and data cleaning

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

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