Finding genetic causes of unexplained childhood leukodystrophies with advanced long-read genome sequencing
Official title: Unraveling the Genomic Causes for Unsolved Leukodystrophy Patients by HiFi-GS
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11379779 · Data updated 2026-11-12
Using AI and more complete long-read genome sequencing to find hidden genetic causes in children with unexplained leukodystrophy.
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) | $107,722 |
| NIH project number | 3R01HD111570-02S1 |
| Project ID | NIH-11379779 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children (approximately 0–11 years old) with leukodystrophy who remain without a genetic diagnosis after standard short-read genome sequencing are the ideal candidates.
✕Less likely to help
Children whose leukodystrophy already has a confirmed genetic diagnosis or whose condition is known to be non-genetic are unlikely to benefit directly from this project.
What this research studies
If your child joins, researchers will first use AI/ML tools to re-analyze existing short-read genome data and select about 125 children whose condition remains unsolved. Then they will apply long-read HiFi genome sequencing to those cases to search for hard-to-detect changes like repeat expansions, structural variants, methylation differences, and personal haplotype assemblies. The team will compare findings to a large pediatric reference dataset (GA4K) to help interpret rare or unusual variants. Results may help explain a child’s condition when previous tests were uninformative.
Why it matters
Potential benefit: This work could provide a genetic diagnosis for children who have had no clear explanation, which can end the diagnostic search and guide medical care and family planning.
How similar studies have gone: Earlier work using long-read HiFi genome sequencing has already found many variants missed by standard sequencing, so this approach builds on promising prior results.
Where this research is happening
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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
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.