# Advancing Recognition and Personalized Genetic Medicine for MODY in a Multi-Ethnic US Population

> **NIH NIH K23** · UNIVERSITY OF CHICAGO · 2021 · $87,031

## Abstract

Project Summary/Abstract
Maturity-onset diabetes of the young (MODY) is estimated to account for ~500,000 cases of diabetes in the
United States. Genetic diagnosis of MODY due to heterozygous mutations in three genes, HNF1A, HNF4A and
GCK, is clinically actionable, allowing therapy selection based on the genetic cause. However, MODY is
frequently misdiagnosed as type 1 or type 2 diabetes. Additionally, racial and ethnic minorities have been
underrepresented in studies of MODY, resulting in inequity in who can benefit from personalized diabetes
genetic medicine. I am a co-investigator of the University of Chicago Monogenic Diabetes Registry. Through
this Registry, I follow over 400 US individuals with MODY due to mutations in HNF1A, HNF4A and GCK.
Leveraging the resource of the Registry and my experience in engaging minority subjects to address
healthcare disparities, I propose the following aims: 1) To prospective identify MODY in minority subjects in
order to assess prevalence of MODY among minorities and to compare pre- and post-genetic testing glycemic
control and diabetes treatment satisfaction following genetically-targeted diabetes management; 2) To
compare the clinical features and biomarkers of MODY between US racial/ethnic minorities and US Non-
Hispanic Whites; and 3) To build a prediction model for MODY in a multiethnic US population at high clinical
suspicion for monogenic diabetes.  I will prospectively identify a cohort of racial/ethnic minorities with young-
onset, non-obese, non-insulin dependent diabetes to undergo genetic testing for MODY. This will establish the
prevalence of MODY among racial and ethnic minorities fitting a clinical phenotype of MODY. MODY-positive
subjects will undergo treatment change based on genetic subtype of diabetes with comparison of pre- and
post- HbAc1 and scores of diabetes treatment satisfaction in order to assess the outcome and impact of
precision medicine in minorities. In order to compare clinical features and biomarkers of MODY between US
racial/ethnic minorities and US Non-Hispanic Whites, I will use existing subjects from the Monogenic Diabetes
Registry with MODY as well as those subjects prospectively identified in aim 1. I will collect additional clinical
data and blood and urine samples in order to assess MODY biomarkers of high sensitivity CRP (hsCRP),
HbA1c, insulin and glucose and urine c-peptide. These studies will provide insight into potentially important
racial/ethnic differences in MODY that will impact clinical approaches to MODY diagnosis. Finally, I will use
clinical features and biomarker results from subjects with and without genetically defined MODY-causing
mutations in order to build a model that will discriminate between individuals with high versus low probability of
MODY due to clinically-actionable forms. The studies proposed in this application will be important steps
towards addressing exclusion of minorities in diabetes precision medicine and supporting US clinicians...

## Key facts

- **NIH application ID:** 10393157
- **Project number:** 3K23DK114564-03S1
- **Recipient organization:** UNIVERSITY OF CHICAGO
- **Principal Investigator:** Rochelle Nicole Naylor
- **Activity code:** K23 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $87,031
- **Award type:** 3
- **Project period:** 2017-07-01 → 2021-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10393157

## Citation

> US National Institutes of Health, RePORTER application 10393157, Advancing Recognition and Personalized Genetic Medicine for MODY in a Multi-Ethnic US Population (3K23DK114564-03S1). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10393157. Licensed CC0.

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