Understanding how a specific gene affects severe developmental disorders and epilepsy
Investigating the role of RHOBTB2 in DEE to develop novel therapies
This study is looking at how changes in the RHOBTB2 gene can cause serious issues like hard-to-treat epilepsy and developmental challenges, with the hope of finding new treatments for people affected by these conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Jude Children's Research Hospital NIH-funded |
| Lab location | 1 site (Memphis, United States) |
| Project ID | NIH-11117363 on NIH RePORTER |
What this research studies
This research investigates the role of the RHOBTB2 gene in developmental and epileptic encephalopathies (DEEs), focusing on how mutations in this gene lead to severe conditions such as intractable epilepsy and developmental impairment. By utilizing advanced cellular models, the study aims to uncover the molecular mechanisms behind these mutations and their effects on brain function. The goal is to develop targeted therapies that can effectively treat patients with RHOBTB2-related disorders, which currently lack effective treatments.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with developmental and epileptic encephalopathies linked to mutations in the RHOBTB2 gene.
Not a fit: Patients with developmental and epileptic encephalopathies not associated with RHOBTB2 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to novel therapies that significantly improve the quality of life for patients with RHOBTB2-related developmental disorders and epilepsy.
How similar studies have performed: While the specific focus on RHOBTB2 in neurodevelopment is novel, similar research approaches have shown promise in understanding genetic disorders and developing targeted therapies.
Where this research is happening
Memphis, United States
- St. Jude Children's Research Hospital — Memphis, United States (Active)
Researchers
- Principal investigator: Mefford, Heather C. — St. Jude Children's Research Hospital
- Study coordinator: Mefford, Heather C.
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.