Understanding how cell energy affects brain development
The impact of mitochondrial and peroxisomal fission dynamics on metabolic signaling during corticogenesis.
This work explores how changes in cell energy factories, called mitochondria, contribute to brain development issues in patients with specific genetic changes.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-11134575 on NIH RePORTER |
What this research studies
Our cells have tiny energy factories called mitochondria that constantly change shape to meet the cell's needs. A protein called DRP1 helps these mitochondria divide, and when DRP1 has certain changes (mutations), patients can experience problems with brain development. We are using cells donated by patients with these DRP1 mutations to understand how these changes affect mitochondrial structure and energy production. By studying these patient cells, including brain-like models grown in the lab, we hope to uncover why these mutations lead to neurodevelopmental conditions.
Who could benefit from this research
Good fit: This foundational research is relevant for patients with neurodevelopmental symptoms linked to specific DRP1 gene mutations, such as G32A or R403C.
Not a fit: Patients whose neurodevelopmental conditions are not related to DRP1 gene mutations may not directly benefit from this specific line of research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the root causes of certain neurodevelopmental conditions, potentially guiding the development of new treatments.
How similar studies have performed: Using patient-derived cell models to understand disease mechanisms is a well-established approach in biomedical research, though the specific findings for DRP1 mutations in corticogenesis are novel.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Robertson, Gabriella Lou Puig — Broad Institute, INC.
- Study coordinator: Robertson, Gabriella Lou Puig
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.