Searching for inherited genetic causes of ME/CFS
Non-Invasive Multi-Modal Neuromonitoring in Adults Undergoing Extracorporeal Membrane Oxygenation
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 ID | NIH-11232343 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: People without ME/CFS, those without affected relatives, or those seeking immediate clinical treatment are unlikely to gain direct benefit from participation.
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 performed: 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
Rochester, United States
- University of Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Choe, Regine — University of Rochester
- Study coordinator: Choe, Regine
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 below.