Improving Diagnosis for Genetic Forms of Diabetes
Genomic Clinical Variant Expert Curation Panel for Monogenic Diabetes: A Gateway to Precision Medicine in Diabetes Mellitus
This project helps doctors better identify rare genetic forms of diabetes so patients can receive the most effective, personalized care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11112427 on NIH RePORTER |
What this research studies
Many people with genetic forms of diabetes, like MODY or neonatal diabetes, are often misdiagnosed as having Type 1 or Type 2 diabetes. This leads to treatments that might not be the best for their specific condition. This effort aims to create a system where experts can accurately interpret complex genetic test results for diabetes. By getting the right diagnosis, patients could switch from insulin injections or ineffective medications to more targeted oral treatments or dietary changes. This personalized approach can significantly improve their health and daily life.
Who could benefit from this research
Good fit: Individuals with suspected or diagnosed genetic forms of diabetes, including MODY or neonatal diabetes, who may be misdiagnosed with Type 1 or Type 2 diabetes, are the focus of this work.
Not a fit: Patients with well-established Type 1 or Type 2 diabetes that are not suspected to have a genetic cause may not directly benefit from this specific effort.
Why it matters
Potential benefit: If successful, this work could lead to more accurate diagnoses and personalized treatments for individuals with genetic forms of diabetes, potentially replacing insulin with oral medications.
How similar studies have performed: While genetic testing for diabetes exists, this project focuses on improving the expert interpretation of complex genetic variants, building on existing knowledge but addressing a critical gap in accurate diagnosis.
Where this research is happening
Baltimore, United States
- University of Maryland Baltimore — Baltimore, United States (Active)
Researchers
- Principal investigator: Pollin, Toni I. — University of Maryland Baltimore
- Study coordinator: Pollin, Toni I.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.