# National Institute on Aging Alzheimer's Disease Family-Based Study (NIA-AD FBS)

> **NIH NIH U24** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2024 · $4,510,753

## Abstract

NIA-AD Family-Based Study. Since 2003, the NIA late-onset Alzheimer’s disease Family Based Study (NIA-
LOAD FBS) has recruited, assessed and followed 1,756 families multiply affected by late-onset Alzheimer’s
Disease (AD), with 9,682 family members, and we have assessed and followed 1,096 unrelated, nondemented
elderly. Of these 7,925 (82%) have DNA, and 7,014 (88.5%) of those have genome wide SNP array data. 1,340
(76%) of the families have either whole exome or whole genome sequencing. The families are racially/ethnically
diverse: 181 (10.3%) are African American, 425 (24.2%) are Latinx, 138 (7.8%) are listed as “other” (mostly
Asian) and 1,012 are white non-Hispanic. 67,626 biological samples have been distributed and 830 national
and international investigators have used either data or samples in over 122 publications from the NIA-LOAD
FBS, including the Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Sequencing Project.
Detailed autopsy reports exist for 181 individuals, but we have completed brain autopsy in 655 from which fresh
brain tissue in 398 (61%) are undergoing bulk RNA sequencing and DNA methylation from the dorsolateral
prefrontal cortex. We have collected peripheral blood mononuclear cells (PBMCs) from 322 individuals during
the follow-up visits of family members. We will continue to expand resources to support functional genomics by
increasing biospecimen collections including additional DNA, plasma, PBMCs and postmortem brain tissue
stored at the National Centralized Repository for Alzheimer’s Disease and Related Disorders for distribution to
AD researchers, facilitating molecular profiling instrumental to prediction models that identify drug targets. During
the COVID-19 pandemic, we relied on telecommunication methods for follow-up and recruitment and will expand
this effort in the renewal. We will also add blood-based biomarkers Ab42, Ab40, total tau (T-tau), neurofilament
light chain and phosphorylated tau 217 (P-tau217) to improve the precision of clinical diagnoses.
 The principal investigators of this U24-Resource Related Cooperative Agreement were asked to extend
recruitment to familial early-onset AD (EOAD) and their adult children. EOAD represents the younger boundary
of the entire age spectrum of AD and is only partially explained by mutations in the APP, PSEN1 and PSEN2.
We have added an investigative team that has already begun recruiting EOAD families and their family members.
 Our multigenerational approach to the study of AD offers an ideal opportunity to determine the penetrance
and heritability of the genetic variants identified in these diverse families. These data will inform and guide
international genetic studies. The return of individual genetic and biomarker results in a research study is a
challenging task due to the ethical and practical complexity. We will be informed by the recommendations of NIA
working groups regarding the return of research results. The goals of this renewal are...

## Key facts

- **NIH application ID:** 10840010
- **Project number:** 5U24AG056270-08
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Gary Wayne Beecham
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $4,510,753
- **Award type:** 5
- **Project period:** 2017-08-01 → 2027-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10840010

## Citation

> US National Institutes of Health, RePORTER application 10840010, National Institute on Aging Alzheimer's Disease Family-Based Study (NIA-AD FBS) (5U24AG056270-08). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10840010. Licensed CC0.

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