Unraveling genetic causes of unsolved pediatric leukodystrophy with HiFi long-read sequencing
Official title: Unraveling the Genomic Causes for Unsolved Leukodystrophy Patients by HiFi-GS
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11474063 · Data updated 2026-11-12
A pediatric-focused study tests how advanced long-read genome sequencing can find hidden genetic causes in kids with leukodystrophy who were not diagnosed using 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) | $107,722 |
| NIH project number | 3R01HD111570-03S1 |
| Project ID | NIH-11474063 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children aged 0-11 with leukodystrophy or related white-matter disorders who remain undiagnosed after standard sequencing.
✕Less likely to help
Patients with a confirmed diagnosis or those not meeting the sequencing criteria may not directly benefit.
What this research studies
This project looks at little patients with leukodystrophy to uncover hidden genetic reasons using long-read genome sequencing. It combines AI-assisted re-analysis of existing data with new HiFi sequencing to detect complex variants, repeats, and structural changes that short-read methods miss. The team will study 125 unsolved cases and compare findings to a large pediatric genome resource to improve diagnosis and understanding. If successful, the work could lead to earlier, more accurate diagnoses for affected children and inform future care. Participation involves pediatric patients who meet the criteria and whose samples may be analyzed with advanced sequencing techniques.
Why it matters
Potential benefit: Patients could receive more precise genetic diagnoses, guiding treatment and prognosis planning.
How similar studies have gone: Prior long-read sequencing studies have shown higher diagnostic yield for complex pediatric cases, suggesting potential for meaningful gains here.
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.