Understanding how mutations in HNF1alpha affect insulin production in beta cells
Dissecting the mechanisms behind biphasic beta cell disease caused by mutations in HNF1alpha
This study is looking at how changes in a specific gene can cause diabetes and a condition called congenital hyperinsulinism, focusing on how these changes affect the insulin-producing cells in your body, and it aims to help improve treatments for people with these conditions.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11144031 on NIH RePORTER |
What this research studies
This research investigates the mechanisms by which mutations in the HNF1alpha gene lead to diabetes and congenital hyperinsulinism. It focuses on how these mutations disrupt the normal function of beta cells, which are responsible for insulin secretion in response to glucose. By using human stem cell-derived beta cell models, the study aims to uncover the metabolic changes and gene expression alterations that occur due to HNF1alpha deficiency. The findings could provide insights into the different clinical presentations of these conditions and improve treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with diabetes or congenital hyperinsulinism linked to HNF1alpha mutations.
Not a fit: Patients without genetic mutations affecting HNF1alpha or those with other forms of diabetes may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of diabetes and congenital hyperinsulinism caused by genetic mutations.
How similar studies have performed: Previous research has shown promising results in understanding monogenic forms of diabetes, suggesting that this approach could yield valuable insights.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Leavens, Karla Fitzgerald — Children's Hosp of Philadelphia
- Study coordinator: Leavens, Karla Fitzgerald
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.