Understanding how certain proteins affect gene expression in Fragile X Syndrome.
Elucidating the interplay between cohesin-mediated loop extrusion and heterochromatin in single cells.
['FUNDING_FELLOWSHIP'] · UNIVERSITY OF PENNSYLVANIA · NIH-11069044
This study is looking into how certain proteins affect gene activity in people with Fragile X Syndrome, aiming to understand why some patients don’t respond to usual treatments that help with their condition.
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-11069044 on ClinicalTrials.gov |
What this research studies
This research investigates the mechanisms behind Fragile X Syndrome (FXS), focusing on how specific proteins, like cohesin, interact with chromatin to regulate gene expression at a single-cell level. The study aims to explore the relationship between the structure of DNA and the silencing of the FMR1 gene, which is crucial for brain function. By using advanced techniques to analyze individual cells, the research seeks to uncover why some patients with FXS do not respond to typical treatments aimed at reversing gene silencing.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Fragile X Syndrome or those carrying the mutation associated with the condition.
Not a fit: Patients without a diagnosis of Fragile X Syndrome or those who do not carry the relevant genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating Fragile X Syndrome and improving outcomes for affected individuals.
How similar studies have performed: Previous research has shown promising results in understanding gene regulation mechanisms in similar genetic disorders, indicating potential for success in this novel approach.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PATEL, ROHAN DIPAK — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: PATEL, ROHAN DIPAK
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: autism spectral disorder, autism spectrum disorder, autism-fragile X (AFRAX) syndrome, Autistic Disorder, autistic spectrum disorder