Investigating how a specific protein affects brain function and developmental disorders in children
The Role of H3K79 Methylation and Dot1L in Neuronal Function and Neurodevelopmental Disorders
['FUNDING_FELLOWSHIP'] · UNIVERSITY OF PENNSYLVANIA · NIH-10934334
This study is looking at a protein called Dot1L in the brain to see how it might affect conditions like autism and developmental delays, using a special mouse model to learn more about how it influences brain development and function.
Quick facts
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10934334 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the role of a protein called Dot1L in the brain and its impact on neurodevelopmental disorders such as autism and developmental delays. The researchers will study how changes in Dot1L affect gene expression in neurons, particularly genes related to synaptic function. By using a special mouse model, they aim to uncover the mechanisms by which Dot1L influences brain development and function, which could lead to new insights into these disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who are diagnosed with autism spectrum disorder or other neurodevelopmental disorders.
Not a fit: Patients who are older than 11 years or do not have neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for neurodevelopmental disorders in children.
How similar studies have performed: Previous research has shown that understanding chromatin regulators like Dot1L can provide valuable insights into neurodevelopmental disorders, indicating a promising avenue for this investigation.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MARONI, MARISSA — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: MARONI, MARISSA
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.
Conditions: Autistic Disorder