National Institute on Aging Alzheimer’s Disease Family Based Study (NIA-AD FBS)
The National Institute on Aging Alzheimer’s Disease Family Based Study (NIA-AD FBS) began in 2003 with the goal of recruiting large, multiply-affected families with late-onset Alzheimer's disease (AD) for genetic research. The study created a resource of well-characterized families with late-onset AD. The initial phases of the Alzheimer's Disease Sequencing Project (ADSP) included genotyping of hundreds of participants from NIA-AD FBS. The ADSP Follow-Up Study heavily engages resources provided by the NIA-LOAD FBS and depends upon the longitudinal follow-up of families, and the collection of additional families, in particular those from diverse populations.
NIA-AD FBS will now extend recruitment within each family to other affected family members and to the next generation, the offspring (adult children) of the probands and their siblings. The NIA-AD FBS will also enhance the representativeness of the families by recruiting additional multiplex families regardless of the age-at-onset and race/ethnicity. Precision to the diagnoses will be augmented by the inclusion of blood-based biomarkers. To further the impact of the NIA-AD FBS, we will recruit the offspring generation of the NIA-AD FBS probands and their siblings, which will inform the predictive utility of genetic variants and blood-based biomarkers. The NIA-AD FBS resources will continue to be the cornerstone of the research community’s success in the study of the genetic etiology of AD, the functional characterization of previously identified variants, and the delineation of the early progression of AD in multigenerational families with high risk of AD.
Samples will include biological materials for genome wide association studies (GWAS) and whole genome sequencing (WGS); peripheral blood mononuclear cells (PBMC) for stem cell modeling; plasma for studies of metabolomics, proteomics, and biomarker research; and brain autopsy materials for bulk RNA sequencing. These biological materials will be made available to the larger scientific community through the National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD). Genetic, genomic, and related phenotypic data will be made available through the National Institute on Aging Genetics of Alzheimer's Disease Data Storage (NIAGADS).
As an essential research resource, the NIA-AD FBS acts as the key provider of the biological materials and clinical data on large multiplex families not only for the ADSP, but also for Alzheimer's Disease Genetics Consortium (ADGC), CADRE: The Collaboration for Alzheimer's Disease Research, and the Alzheimer's Disease Research Centers (ADRCs). Other ongoing collaborations include the Uniformed Services University of the Health Sciences (USUHS) large-scale sequencing center, Genome Center for Alzheimer's Disease (GCAD), National Alzheimer's Coordinating Center (NACC), and the Accelerating Medicines Partnership® Program for Alzheimer's Disease (AMP®AD).
An important aspect of the function of the NIA-AD FBS is to continue to coordinate with other components of essential infrastructure related to the ADSP and to provide infrastructure support in the form of biological materials and clinical data for NIA-funded genetic research on AD.