Understanding how losing an extra chromosome affects Pallister-Killian syndrome
Official title: Elucidating the effects of extra chromosome elimination in mosaic aneuploidy syndromes: Pallister-Killian syndrome as a model
Funded at Ut Southwestern Medical Center · NIH-10887038 · Data updated 2026-11-12
This study is looking at how having an extra chromosome affects people with Pallister-Killian syndrome, to help us understand their symptoms better and find ways to improve their care.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | July 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $217,806 |
| NIH project number | 7R21HD108557-02 |
| Project ID | NIH-10887038 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with Pallister-Killian syndrome or other mosaic aneuploidy syndromes.
✕Less likely to help
Patients without chromosomal abnormalities or those with conditions unrelated to mosaic aneuploidy may not benefit from this research.
What this research studies
This research investigates the effects of losing an extra chromosome in patients with Pallister-Killian syndrome (PKS), a condition characterized by mosaic chromosomal abnormalities. The study focuses on how the presence of an extra chromosome impacts cellular function and the severity of symptoms in affected individuals. By examining the relationship between the proportion of cells with and without the chromosomal abnormality, researchers aim to uncover insights that could lead to better understanding and management of PKS. The approach includes analyzing cellular populations and their functional characteristics to determine if rescued cells exhibit any ongoing issues.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment strategies for patients with Pallister-Killian syndrome and similar mosaic aneuploidy conditions.
How similar studies have gone: While the specific approach in this research is novel, previous studies have shown that understanding chromosomal abnormalities can lead to significant advancements in treatment for congenital disorders.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Izumi, Kosuke — Ut Southwestern Medical Center
- Study coordinator: Izumi, Kosuke
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.