Unraveling genetic causes of unsolved pediatric leukodystrophy with long-read genomes
Official title: Unraveling the Genomic Causes for Unsolved Leukodystrophy Patients by HiFi-GS
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11378575 · Data updated 2026-11-12
A study using advanced long-read genome sequencing and AI tools to find hidden genetic causes of leukodystrophies in children who remain undiagnosed after standard tests.
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 | 2026 |
| Award (this year) | $499,025 |
| NIH project number | 5R01HD111570-03 |
| Project ID | NIH-11378575 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children aged 0-11 with leukodystrophy or suspected leukodystrophy who remain undiagnosed after standard sequencing.
✕Less likely to help
Patients without leukodystrophy or those already diagnosed may not benefit directly.
What this research studies
This project will analyze 125 unsolved pediatric leukodystrophy cases with AI-assisted short-read genome data, then compare findings to a large long-read genome reference to uncover complex variants like repeats and structural changes. By leveraging HiFi sequencing, methylation data, and improved assemblies, researchers aim to reveal overlooked genetic factors in white-matter disorders. The work focuses on translating genomic discoveries into clearer diagnoses and closer-to-tailored care for affected children and their families.
Why it matters
Potential benefit: If successful, the project could increase diagnostic yield for pediatric leukodystrophies and inform more precise management options for affected children.
How similar studies have gone: Prior work with long-read sequencing has shown substantial gains in identifying complex variants missed by standard methods.
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
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.