Investigating how chromatin regulators affect brain development and disorders
The role of chromatin regulators in neurodevelopmental disorders
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-10981097
This study is looking at a protein called DOT1L to see how problems with it can affect brain development and lead to conditions that impact how the brain works, especially in people with specific genetic mutations.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10981097 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the role of a specific protein, DOT1L, in brain development and how its malfunction can lead to neurodevelopmental disorders. By studying the genetic mutations that affect DOT1L, the researchers aim to uncover the mechanisms by which these mutations disrupt normal brain function. The approach involves analyzing how changes in chromatin, the material that packages DNA, influence gene expression critical for neuronal development. Patients with certain genetic mutations may provide insights into the biological processes at play.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with neurodevelopmental disorders linked to mutations in chromatin regulators, particularly those affecting DOT1L.
Not a fit: Patients without genetic mutations related to chromatin regulation or those with unrelated neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for neurodevelopmental disorders by targeting the underlying genetic causes.
How similar studies have performed: Previous research has shown promising results in understanding the role of chromatin regulators in various disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: KORB, ERICA MEGAN — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: KORB, ERICA MEGAN
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.