# The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS)

> **NIH NIH U24** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2021 · $1,663,171

## Abstract

The National Institute of Aging Late Onset Alzheimer’s Disease Family Based Study (NIA-LOAD FBS)
began in 2003, starting a trend of greater cooperation and sharing of clinical and biological resources among
researchers. To date, a total of 1,454 multiplex late onset AD (LOAD) families have been recruited with 8,543
family members clinically assessed and DNA sampled. We have also recruited 1,030 controls. Genome-wide
SNP arrays have been generated on 5,428 individuals, exome chip genotyping on 1,278 individuals, whole
exome sequencing in 1,484 and whole genome in 928 family members and controls. The conversion rate of to
LOAD among unaffected relatives in the NIA-LOAD FBS is three-fold higher than would be expected among
individuals of similar age (see #67 Bibliography). All of these data have been placed in the public domain in
NIAGADS and dbGaP. The NIA-LOAD FBS is widely used in Alzheimer disease genetics with 79 high level
publications to support this claim (Bibliography).
 The NIA-LOAD FBS provides an excellent opportunity to improve our understanding of the clinical and
biological impact of genetic variation in the elderly. Phenotypic information is continually updated in these
families by regular cognitive evaluations and autopsy at the time of death to confirm the diagnosis of LOAD.
We have begun to recruit additional family members with a particular emphasis on the offspring generation.
We have been able to bank brain tissue from family members creating one of the largest collections of brain
tissues for familial LOAD. We will now expand biological sampling to include RNA and peripheral blood
mononuclear cells in selected families.
 As additional genes and variants are identified, the members of the NIA LOAD Family Study will again play
a central role as we explore: What is the impact of these risk and protective variants on disease risk? Are the
genetic variants highly penetrant? What is the risk of developing LOAD in offspring? Can the presence of
variants be used for stratification of patients into specific subtypes for clinical trials? Can the family data be
used to identify novel biomarkers of disease risk, age at onset onset or progression?
 The NIA-LOAD FBS dataset is uniquely poised to address these clinical and biological questions because
of its large size, rigorous ascertainment criteria, standardized clinical assessment and lack of restriction to
specific mutations. Our efforts have made it easy and seamless for the genetic data to be shared, allowing
even more researchers to obtain the data and samples collected as part of the NIA-LOAD FBS for research
studies. This is by far the largest collection of LOAD families available in the world. Virtually every major
genetic study of Alzheimer’s disease has included patients and controls from the NIA-LOAD FBS dataset. The
availability of dense phenotypic and genetic data will also position the NIA-LOAD FBS in to determine the
impact of variants identified in whole genome and whole e...

## Key facts

- **NIH application ID:** 10198718
- **Project number:** 5U24AG056270-05
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** TATIANA M. FOROUD
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,663,171
- **Award type:** 5
- **Project period:** 2017-08-01 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10198718

## Citation

> US National Institutes of Health, RePORTER application 10198718, The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS) (5U24AG056270-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10198718. Licensed CC0.

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