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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

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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

load recruitment
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
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
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
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 review6
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 review7
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
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
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 requests10
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 requests11
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
NCRAD Lab Update
  • Biomek 3000 robot
    • Reduce costs
    • Reduce errors
    • Mass produce
  • New database built from scratch
    • Better tracking
    • Cleaning data
summary
Summary
  • Pedigree review important to increase available families and samples
  • New sample request process
  • Hope to gain more qualifying families with follow-up