Understanding genetic changes in Kleefstra Syndrome
Official title: Insights into EHMT1 Variants in the Neurodevelopmental Disorder Kleefstra Syndrome through Structural Dynamics and Functional Analysis
Funded at Medical College of Wisconsin · NIH-10949455 · Data updated 2026-11-12
This study is looking at how changes in a specific gene called EHMT1 might affect children with Kleefstra Syndrome, helping us understand the gene's role better and potentially leading to better ways to diagnose and treat the condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Medical College of Wisconsin NIH-funded |
| Lab location | 1 site (Milwaukee, United States) |
| Project start | September 11, 2024 |
| Project end | September 10, 2026 |
| Funding year | 2024 |
| Award (this year) | $429,000 |
| NIH project number | 1R21HD116120-01 |
| Project ID | NIH-10949455 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with Kleefstra Syndrome or those exhibiting symptoms associated with this condition.
✕Less likely to help
Patients without a diagnosis of Kleefstra Syndrome or those over the age of 11 may not benefit from this research.
What this research studies
This research investigates the genetic variations in the EHMT1 gene that are linked to Kleefstra Syndrome, a neurodevelopmental disorder affecting children. By using advanced computational methods, the study aims to analyze how these genetic changes impact the function of the EHMT1 protein, which plays a crucial role in gene regulation. The research focuses on understanding the structure and dynamics of the EHMT1 protein to better interpret the significance of different genetic variants. This could lead to improved diagnosis and treatment strategies for affected children.
Why it matters
Potential benefit: If successful, this research could provide clearer insights into the genetic causes of Kleefstra Syndrome, leading to better management and therapeutic options for patients.
How similar studies have gone: Previous research has shown promise in understanding genetic disorders through similar structural and functional analyses, indicating a potential for success in this approach.
Where this research is happening
-
Medical College of Wisconsin
Milwaukee, United States Active
Researchers
- Principal investigator: Urrutia, Raul a. — Medical College of Wisconsin
- Study coordinator: Urrutia, Raul a.
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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.