# Dominantly Inherited Alzheimer Network: Genetics Core

> **NIH NIH U19** · WASHINGTON UNIVERSITY · 2020 · $314,477

## Abstract

Core F: Genetics SUMMARY
During the last two decades three genes have been shown to cause autosomal dominant forms of early onset
dementing illnesses. These rare disorders have provided enormous insight into the pathogenesis of more
common variants of the same diseases. Several of the most promising new therapeutics are based on the Aß
hypothesis, a hypothesis strongly supported by the causative mechanisms of disease mutations in autosomal
dominant families. As these putative therapeutics are tested in clinical trials there is a growing need to use the
ADAD kindreds both to understand the natural history of the earliest clinical and preclinical phases of the disease
and to test the efficacy of the therapeutics in a setting, where if the Aβ hypothesis is correct, they should have a
dramatic effect on prognosis. During the last funding cycle, we have expanded our network of centers and have
begun longitudinal characterization of a large series of ADAD kindreds with known disease-causing mutations.
The goal of the next funding period will be to continue longitudinal follow up of these kindreds to identify the
earliest detectable changes associated with development of disease and to characterize the temporal series of
events that occurs up to and including the diagnosis of symptomatic AD. The goal of the Genetics Core of the
DIAN initiative is to provide genetic information and useful biological and genomic materials to the research
community for the study of AD. We have already collected genomic samples from 531 individuals and generated
fibroblasts from 99 individuals. We anticipate collection of an additional 125 new individuals during the next
funding cycle, including participants from NIH and self-funded sites. We will expand the fibroblast and induced
pluripotent stem cell collection. The Core will maintain and curate a list of pathogenic mutations and confirm that
new DIAN families carry an ADAD mutation. The Core will also generate GWAS and APOE genotype data on
all individuals and obtain biological materials (fibroblasts, induced pluripotent stem cells, white blood cells) to
perform cell-based functional studies. All data will be placed in the DIAN database. We will support all projects
in DIAN and perform analyses with other Cores to identify novel factors modulating age at onset in these families.

## Key facts

- **NIH application ID:** 10017835
- **Project number:** 5U19AG032438-09
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Carlos Cruchaga
- **Activity code:** U19 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $314,477
- **Award type:** 5
- **Project period:** 2008-09-15 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10017835

## Citation

> US National Institutes of Health, RePORTER application 10017835, Dominantly Inherited Alzheimer Network: Genetics Core (5U19AG032438-09). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10017835. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*