Searching for inherited genetic causes of ME/CFS
Official title: Non-Invasive Multi-Modal Neuromonitoring in Adults Undergoing Extracorporeal Membrane Oxygenation
Funded at University of Rochester · NIH-11232343 · Data updated 2026-11-12
Researchers will sequence the genomes of relatives with ME/CFS to find rare inherited genetic changes that might cause the illness.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project start | January 2, 2024 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $451,230 |
| NIH project number | 5R01NS131967-03 |
| Project ID | NIH-11232343 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults (21+) with a confirmed ME/CFS diagnosis who have at least one other affected family member (ideally an affected cousin) and can provide medical records and a DNA sample are ideal candidates.
✕Less likely to help
People without ME/CFS, those without affected relatives, or those seeking immediate clinical treatment are unlikely to gain direct benefit from participation.
What this research studies
If you join, researchers will enroll adults from families with multiple ME/CFS cases, focusing on pairs of affected cousins and other affected relatives. They will collect medical information and DNA samples and perform whole-genome sequencing on affected cousin pairs to find rare variants they share. Identified genes and regulatory changes will be checked against larger ME/CFS datasets like DecodeME to see if the same signals appear elsewhere. The team uses high-risk family groups identified through linked genealogy and medical records to increase the chance of finding inherited causes.
Why it matters
Potential benefit: Discovering inherited genetic variants could reveal biological causes of ME/CFS and point to new targets for diagnosis or treatment.
How similar studies have gone: Prior genetic studies have nominated candidate ME/CFS genes but no validated functional variants, so this family-based whole-genome approach is promising but not yet proven for ME/CFS.
Where this research is happening
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University of Rochester
Rochester, United States Active
Researchers
- Principal investigator: Choe, Regine — University of Rochester
- Study coordinator: Choe, Regine
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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.