# Genetics and Genomics Core

> **NIH NIH P30** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2021 · $495,607

## Abstract

Mount Sinai ADRC (Sano): Genetics and Genomics Core (Core F) – Research Summary
One hundred years ago dementing illnesses were classified based upon their clinical presentation and
neuropathology. The promise of the twenty first century is that we will be able to classify these same diseases
by the genetic cause or genetic risk factors, a classification based upon etiology not symptomatology. During the
last three decades many 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. In 1993, a polymorphism in the apolipoprotein E (APOE) gene was identified as the first
genetic risk factor for AD. A dose-dependent effect of the APOE4 allele has now become an important variable
in all studies of AD. During the last ten years genome-wide association studies and next generation sequencing
studies have begun to identify many novel risk factors for AD. The goal of the Genetics and Genomics Core of
the ISMMS ADRC is to provide genetic data and biospecimens on all ADRC participants. We will obtain blood
samples on ADRC participants. One blood sample will be sent to NCRAD, where it will be available to the entire
community and will be included in national AD Genetics initiatives such as ongoing genome-wide association
studies (GWAS) and whole genome/exome sequencing projects. The second tube will be retained locally. For
DNA. Plasma and APOE genotype will also be available on all ADRC participants. Many participants will also
have GWAS, exome array and/or whole exome/genome sequence data through national and international
initiatives and ADRC affiliated projects. This data will be stored in the master ISMMS ADRC database and
provided to investigators upon request. The Core will support projects and other cores as well as ADRC affiliated
ageing and dementia projects. New in this application, we will begin to bank PBMCs and pilot plasma biomarker
collection to enable novel biomarker programs in peripheral tissues.

## Key facts

- **NIH application ID:** 10149907
- **Project number:** 5P30AG066514-02
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** ALISON M GOATE
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $495,607
- **Award type:** 5
- **Project period:** 2020-05-01 → 2025-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10149907

## Citation

> US National Institutes of Health, RePORTER application 10149907, Genetics and Genomics Core (5P30AG066514-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10149907. Licensed CC0.

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