NIA LOAD Genetics Initiative

Progress Report 2007:

NCRAD and LOAD Update

Kelley Faber, MS, CCRCNational 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!!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 NCRADNCRAD reviews

MDS

NCRAD confirms

family structure

Family complete

Sample Requests

Researchers currently requesting samples from NCRAD and LOAD families NCRAD pedigrees currently online at

www.ncrad.org 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