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Published bySharon Hood Modified over 9 years ago
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Alzheimer’s Disease Genetics Initiative: Multiplex Family Study Jennifer Williamson Catania, MS Columbia University and NCRAD
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LOAD Statistics
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906 Pedigrees Approved
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Approved pedigrees # affected individuals per family # pedigrees approved % of pedigrees approved 249955.1 325227.8 49410.4 5293.2 6141.6 7 or more182.2 45% of pedigrees approved have 3 or more affected individuals
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LOAD Update: Stats
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Consortium sites
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LOAD Update: Control Stats 50 more control samples received, but no longer control: –Converted to dementia If converted, update Control status in data set –Miscoded as a control –Too young –Has 1 st degree relatives with AD Researchers very interested in control series
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NIA Genetics Initiative Families
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Consortium Sites: People and families with at least one sample at NCRAD Families = 417, People = 1,971 All Sites: Families = 630, People = 2,824
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Samples at NCRAD: Progress October 2003 –107 families –378 samples –No data October 2004 –422 families –1885 samples –1298 samples with MDS September 2005 –519 families –2607 samples –2489 samples with MDS May 2006 -630 families (87 CU Hispanic families) -2824 samples -2653 samples with MDS
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Percent Affected Per Family
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Minimum Data Set (MDS)
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MDS Revise MDS for change in the cognitive testing variable to conform with UDS. Addition of psychiatric battery. Generate “follow up” reports using the last interval Required for sampled variables Complete missing data for CIDR project Pedigree review
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Future Plans RECRUITMENT: –Identify and recruit new families meeting NIA-LOAD criteria. Partner with the Alzheimer’s Association. FOLLOW UP ASSESSMENTS: –Identify newly affected family members and appropriate unaffected members in participating families. –June 2006, implement standardized follow-up procedures. AUTOPSY: –Facilitate autopsy. –Reimburse sites for expenses related to autopsy for non- ADRC participants.
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