NIA LOAD Genetics Initiative Progress Report 2007: NCRAD and LOAD Update Kelley Faber, MS, CCRC National Cell Repository for Alzheimer’s Disease

LOAD Recruitment Family referral from NCRAD to Sites: 2003: 131 Families 2004: 112 Families 2005: 28 Families 2006: 37 Families 2007: 9 Families so far… Common recruitment sources Internet, Alzheimer’s Association, clinicaltrials.gov NCRAD/Columbia plan to attend several small regional conferences as well as Dementia Care Conference in Chicago, IL

NCRAD Recruitment Continue to recruit new families Good option for families who fail to meet LOAD criteria (not sibs, no 3rd person, not over 60) 2+ living with early or late onset AD, related dementia Qualifying families should contact NCRAD directly Almost 900 families currently enrolled

LOAD Update Qualifying Families and Controls April 2007 data call added 24 new qualifying families! We are now up to 427 total We have 590 control samples Keep Up The Good Work!!

Pedigree Review Every 6 months prior to data call and data cleaning Make corrections prior to data submission Each site asked to review updated list of potentially “completed” families Both qualifying and dead end families NCRAD will plot families for each site from MDS Fax or FedEx to site for verification

Pedigree Review After site verifies family structure, samples will be screened in IU lab If errors reported: NCRAD verifies that sample IDs are correct Review data set and pedigree submitted by site Contact site to validate data Investigate sources of lab error

Pedigree Review First pedigree review April 2007 Received pedigrees from 12 sites Sending 43 new qualifying and completed families to lab for fingerprinting Dead End families NCRAD will not release samples to investigators until pedigree review process is complete!!

LOAD/NCRAD Quality Checks Proband ascertained Family recruited Complete study visits Send blood to NCRAD Database & submit MDS to NCRAD NCRAD reviews MDS NCRAD confirms family structure Family complete

Sample Requests Researchers currently requesting samples from NCRAD and LOAD families NCRAD pedigrees currently online at LOAD pedigrees for CIDR families are coming online!!!

Sample Requests To further promote NCRAD and its resources, staff will be at the Alzheimer’s Association International Conference on Prevention NCRAD booth in exhibit hall

Sample Requests Fingerprinting all samples on the way out of lab to researcher Started charging cost recovery fee for requested samples LOAD investigators will continue to receive a single free aliquot of 25ug of DNA for those samples they have collected

NCRAD Lab Update Biomek 3000 robot Reduce costs Reduce errors Mass produce New database built from scratch Better tracking Cleaning data

Summary Pedigree review important to increase available families and samples New sample request process Hope to gain more qualifying families with follow-up