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NIA LOAD Genetics Initiative


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

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Title: NIA LOAD Genetics Initiative

NIA LOAD Genetics Initiative
  • Progress Report 2007
  • NCRAD and LOAD Update
  • Kelley Faber, MS, CCRC
  • National Cell Repository for Alzheimers 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, Alzheimers Association,
  • 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
  • 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
  • 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
  • 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
Complete study visits
Family recruited
Proband ascertained
Send blood to NCRAD
NCRAD confirms family structure
Database submit MDS to NCRAD
NCRAD reviews MDS
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

Sample Requests
  • To further promote NCRAD and its resources, staff
    will be at the Alzheimers 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
  • 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

  • Pedigree review important to increase available
    families and samples
  • New sample request process
  • Hope to gain more qualifying families with