Finding Genetic Answers for Children with Leukodystrophy
Official title: Unraveling the Genomic Causes for Unsolved Leukodystrophy Patients by HiFi-GS
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11195555 · Data updated 2026-11-12
This project uses advanced genetic testing and artificial intelligence to find the missing genetic causes for children with leukodystrophy whose condition hasn't been fully explained yet.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Mercy Hosp (Kansas City, Mo) NIH-funded |
| Lab location | 1 site (Kansas City, United States) |
| Project start | September 20, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $505,862 |
| NIH project number | 5R01HD111570-02 |
| Project ID | NIH-11195555 on NIH RePORTER |
Who could benefit from this research
✓Could help
This work focuses on children aged 0-11 years old who have been diagnosed with leukodystrophy but do not yet have a clear genetic explanation for their condition.
✕Less likely to help
Patients who already have a confirmed genetic diagnosis for their leukodystrophy or those with other neurological conditions not classified as leukodystrophy would not directly benefit from this specific diagnostic effort.
What this research studies
Leukodystrophies are rare brain disorders that primarily affect the white matter in previously healthy children, often leading to very serious health challenges. For many children with these conditions, standard genetic tests cannot identify a clear cause, leaving families without a definitive diagnosis. This project aims to use a new, highly detailed genetic sequencing method, combined with artificial intelligence, to uncover complex genetic changes that standard tests often miss. By studying existing genetic data from children with unsolved leukodystrophy, the goal is to pinpoint the specific genetic reasons behind their conditions. This deeper understanding could pave the way for more precise diagnoses and potentially new treatment approaches.
Why it matters
Potential benefit: Successfully identifying the genetic cause could lead to a clearer diagnosis, better understanding of the disease progression, and potentially open doors to new treatment options for affected children.
How similar studies have gone: Previous work by this team has shown that this advanced genetic testing method can uncover genetic changes, including structural variants, that are often missed by standard tests in other rare pediatric diseases.
Where this research is happening
-
Children's Mercy Hosp (Kansas City, Mo)
Kansas City, United States Active
Researchers
- Principal investigator: Pastinen, Tomi — Children's Mercy Hosp (Kansas City, Mo)
- Study coordinator: Pastinen, Tomi
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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.