# Monogenic Diabetes: Next Generation Diagnosis, Treatment and Complications

> **NIH NIH R01** · UNIVERSITY OF CHICAGO · 2023 · $548,062

## Abstract

ABSTRACT
Diabetes mellitus affects close to 30 million people in the United States, causing significant morbidity and
mortality and economic burden to the healthcare system. A critical aspect of addressing this burden is
optimizing glycemic outcomes through accurate diabetes classification and management. This concept is most
precisely applied to monogenic diabetes, where genetic diagnosis directs gene-targeted therapy resulting in
improved clinical outcomes and will inform the implementation of similar future approaches to type 1 and type 2
diabetes. Monogenic diabetes remains the best example of personalized medicine in diabetes, yet it is usually
misdiagnosed and therefore inappropriately treated. Over the last four years, enrollment in the University of
Chicago Monogenic Diabetes Registry has surged to over 1000 with causal genetic variants, including 344
individuals whose diagnosis was made possible only through our research funding in the last four years. We
are the largest registry of monogenic diabetes in the Western Hemisphere and we have detailed the clinical
and cost-effectiveness of diabetes precision medicine in over 30 publications.
 Our overarching goals continue to be: to accelerate efficient diagnosis, to advance progress in
understanding, and to inform clinical guidelines in the management of monogenic forms of diabetes, through
cumulative longitudinal follow-up and pragmatic cohort studies from our Registry. We propose to bolster our
innovative efforts by establishing a genetic testing algorithm that accurately identifies appropriate individuals
for single gene Sanger sequencing and prioritizes massively parallel sequencing for those who would
otherwise require iterative gene screening. Additionally, we will adapt the Registry platform to improve
engagement via a participant-facing portal and ensure sustainability through adaptive change garnered from
Registry insights. Finally, we will engage current Registry participants to identify barriers to sharing positive
monogenic diabetes results with relatives, which will guide the development of a structured approach to
cascade genetic testing, as well as cost-effectiveness analyses, to improve enrollment of family members for
genetic testing.
 These projects will have a broad direct impact by improving healthcare provider and commercial
genetic testing laboratory practices in the cost-effective diagnosis of monogenic diabetes. We aim to decrease
participant burden and improve data quality and completeness while advancing the evaluation and surveillance
infrastructure of the Registry to allow accurate conclusions about the benefits of targeted gene therapy in
monogenic diabetes. Furthermore, we aim to develop improved strategies to extend the benefits of precision
medicine through cascade testing. The Monogenic Diabetes Registry will continue to play a prominent role in
bridging evidence gaps in monogenic diabetes to ultimately improve patient outcomes and be a model for
precision d...

## Key facts

- **NIH application ID:** 10544513
- **Project number:** 5R01DK104942-08
- **Recipient organization:** UNIVERSITY OF CHICAGO
- **Principal Investigator:** Siri Atma W. Greeley
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $548,062
- **Award type:** 5
- **Project period:** 2016-01-08 → 2024-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10544513

## Citation

> US National Institutes of Health, RePORTER application 10544513, Monogenic Diabetes: Next Generation Diagnosis, Treatment and Complications (5R01DK104942-08). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10544513. Licensed CC0.

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