# Human Genetics

> **NIH NIH P30** · UNIVERSITY OF CALIFORNIA, SAN DIEGO · 2023 · $198,473

## Abstract

Project Summary
Genetic susceptibility contributes significantly to the development of diabetes and its complications. Recent
successes in genome wide association and exome sequencing have demonstrated that the technological
capability now exists to identify many of the genes responsible for complex disorders. To be successful in such
endeavors, it is necessary to combine expertise in genetic epidemiology, clinical investigation, molecular
genotyping, DNA sequencing, and mathematical genetic analysis. The goal of the Human Genetics Core is to
offer such expertise to DRC investigators conducting genetic studies. To achieve this objective, the Human
Genetics Core will: a) Assist DRC investigators in the development and successful completion of well-designed
genetic studies; b) Establish and store EBV-transformed lymphoblastoid cell lines (LCLs), as well as PAXgene
tubes; c) Provide access to molecular methodology for genome-wide association studies (GWAS) and
specialized (e.g., the exome chip), candidate gene sequencing, whole exome sequencing (WES), whole
genome sequencing (WGS), and large-scale gene methylation analysis (by chip); d) Assist with mathematical
genetic epidemiologic analysis, including analysis of multi-omics data; e) Make induced pluripotent stem cells
(iPSCs), as well as diabetes-relevant cells derived from them, available to investigators as a means of
investigating the impact of specific genetic variants on organ development and tissue function; f) Provide
training in genetic techniques to DRC investigators and staff; g) Provide access to DRC investigators to a
national multi-ethnic (including high-risk minorities) genomics resource for the study of diabetes and diabetes-
related phenotypes. In the last cycle, the Human Genetics Core brought GWAS technology to DRC
investigators and in this cycle extends the technology available for studying human samples with the addition
of specialized genotyping chips, methylation chips, exome and whole genome sequencing, and iPSC
technology. The DRC offers a unique opportunity to facilitate research directed at identifying and characterizing
the genes responsible for diabetes and related disorders, including both macrovascular and microvascular
complications, by providing access to both the expertise and facilities necessary for such genetic research in
human populations. In the last cycle, the Human Genetics Core augmented GWAS technology by offering
specialized genotyping chips to DRC investigators as well as iPSC technology. In this cycle, the Core will
expand the available technologies, including several new specialized genotyping chips (e.g., GSA, 850K
methylation), next generation sequencing, and diabetes-relevant tissues derived from iPSCs, complemented
by updated multi-omic analysis methods. The DRC facilitates research directed at identifying and
characterizing the genes responsible for diabetes and related disorders by providing access to both the
expertise and facilities necessary ...

## Key facts

- **NIH application ID:** 10694224
- **Project number:** 5P30DK063491-21
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN DIEGO
- **Principal Investigator:** Jerome I Rotter
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $198,473
- **Award type:** 5
- **Project period:** 2002-12-01 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10694224

## Citation

> US National Institutes of Health, RePORTER application 10694224, Human Genetics (5P30DK063491-21). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10694224. Licensed CC0.

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