Understanding the causes and symptoms of pediatric DPD deficiency
Identifying molecular mechanisms contributing to disease etiology and the neurological symptoms associated with pediatric DPD deficiency
This study is looking into how changes in a specific gene can cause serious brain problems in children with Dihydropyrimidine dehydrogenase (DPD) deficiency, and it hopes to find new ways to help manage these symptoms.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11062994 on NIH RePORTER |
What this research studies
This research investigates the genetic and molecular mechanisms behind pediatric Dihydropyrimidine dehydrogenase (DPD) deficiency, a rare condition that leads to severe neurological symptoms in children. Using advanced models derived from induced pluripotent stem cells, the study aims to explore how mutations in the DPYD gene affect brain signaling and contribute to symptoms like seizures. By identifying the underlying biological pathways, the research seeks to uncover potential therapeutic targets that could alleviate these symptoms. The approach combines genetic analysis with innovative brain organoid technology to provide insights into this complex disorder.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with pediatric DPD deficiency or those exhibiting related neurological symptoms.
Not a fit: Patients with DPD deficiency who are adults or those without the specific genetic mutations linked to this condition may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the quality of life for children affected by DPD deficiency.
How similar studies have performed: Previous research has shown promise in understanding genetic disorders through similar molecular approaches, indicating potential for success in this area.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Bembenek, Brianna — Mayo Clinic Rochester
- Study coordinator: Bembenek, Brianna
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.