# GENETICS OF EARLY-ONSET ALZHEIMER'S DISEASE

> **NIH NIH R01** · UNIVERSITY OF SOUTH FLORIDA · 1993 · $271,480

## Abstract

Alzheimer's Disease is a major cause of morbidity and mortality in aging
populations and incurs a heavy toll on health services.  It affects 5% of
the population over 65 years and 15% over 85 years. The pathogenic
pathways are not established but it is clear that the disease is
etiologically heterogeneous. Using traditional reverse genetic approaches
we have isolated missense mutations in the amyloid precursor protein (APP)
gene which cause the illness in some early onset families. In this project
we will apply reverse genetics and direct screening to separate those
families (from extensive sources in the UK and US) which have APP
mutations. New mutations in APP will be characterized by direct
sequencing. The families which do not have APP mutations will be subject
to a genome search. With the use of large pedigrees and concurrent
simulation studies we will circumvent the problem of heterogeneity to
genetically isolate (an) additional (locus) loci. By dissecting the
genetics of Alzheimers disease in this way we will further delineate the
pathogenic pathways which cause not only the pure genetic cases but the
more common cases of mixed aetiology.

## Key facts

- **NIH application ID:** 3123681
- **Project number:** 1R01AG011871-01
- **Recipient organization:** UNIVERSITY OF SOUTH FLORIDA
- **SAM.gov UEI:** NKAZLXLL7Z91
- **Principal Investigator:** JOHN A. HARDY
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1993
- **Award amount:** $271,480
- **Award type:** 1
- **Project period:** 1993-07-01 → 1996-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3123681

## Citation

> US National Institutes of Health, RePORTER application 3123681, GENETICS OF EARLY-ONSET ALZHEIMER'S DISEASE (1R01AG011871-01). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3123681. Licensed CC0.

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