Finding New Genes for Childhood Mitochondrial Brain Disease
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene Discovery
['FUNDING_R01'] · BAYLOR COLLEGE OF MEDICINE · NIH-11005757
This project aims to discover the unknown genetic causes of childhood mitochondrial brain disease using advanced genetic testing and cell studies.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-11005757 on ClinicalTrials.gov |
What this research studies
Many children with mitochondrial brain disease don't know the exact genetic cause of their condition, which makes it hard to find effective treatments. This project uses a personalized approach, looking closely at the genes, RNA, and metabolism of patients to pinpoint the specific genetic changes causing their illness. Researchers will also study these identified genes and pathways in cells to understand how they contribute to the disease. The goal is to provide a molecular diagnosis for more children and shed light on how these complex diseases develop.
Who could benefit from this research
Good fit: This project focuses on children aged 0-11 years old who have clinically confirmed primary mitochondrial encephalopathy but do not yet have a molecular diagnosis.
Not a fit: Patients who already have a confirmed genetic diagnosis for their mitochondrial disease may not directly benefit from this gene discovery effort.
Why it matters
Potential benefit: If successful, this work could lead to new diagnoses for children with mitochondrial brain disease and open doors for developing targeted treatments.
How similar studies have performed: While personalized genomics approaches have shown promise in identifying disease genes, this specific combination of multi-omic strategies for mitochondrial encephalopathy gene discovery is a novel and comprehensive approach.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BONNEN, PENELOPE E — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: BONNEN, PENELOPE E
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.