Understanding gene regulation in children with Fragile X Syndrome and Autism
Official title: Defining post-transcriptional gene regulation in FMRP-deficiency usingmiRNA:target chimeras
Funded at Johns Hopkins University · NIH-11004621 · Data updated 2026-11-12
This study is looking at how a missing protein affects gene activity in kids with Fragile X Syndrome, which is often linked to autism, to help us understand their challenges better and find new ways to support them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | January 1, 2023 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $404,431 |
| NIH project number | 5R01MH129292-03 |
| Project ID | NIH-11004621 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who have been diagnosed with Fragile X Syndrome or Autism Spectrum Disorder.
✕Less likely to help
Patients who do not have Fragile X Syndrome or Autism Spectrum Disorder may not benefit from this research.
What this research studies
This research investigates how the absence of a specific protein, FMRP, affects gene regulation in children with Fragile X Syndrome, a leading cause of Autism Spectrum Disorder. By studying both mice and human neurons, the researchers aim to identify how microRNAs, which are small molecules that regulate gene expression, are altered in these conditions. The goal is to better understand the molecular mechanisms that contribute to the behavioral and cognitive challenges faced by affected children. This could lead to new insights into potential therapeutic targets for improving outcomes in these patients.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve social and communication skills in children with Fragile X Syndrome and Autism.
How similar studies have gone: Previous research has shown promising results in understanding gene regulation in similar neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Meffert, Mollie Katherine — Johns Hopkins University
- Study coordinator: Meffert, Mollie Katherine
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.