Using genetics to reduce misdiagnosis of narcolepsy and sleep-wake rhythm disorders
Leveraging human genetics to overcome complex diagnostic challenges, evaluation of pan-ancestry polygenic scores to reduce misdiagnosis of narcolepsy and circadian rhythm sleep wake disorders.
Researchers will create genetic risk scores that work across ancestries to help people with suspected narcolepsy and circadian rhythm sleep-wake disorders get diagnosed more accurately.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11261119 on NIH RePORTER |
What this research studies
From a patient's point of view, this project combines large-scale genetic data to build both rare-variant and common-variant risk scores that are useful across different ancestries. The team will mine big exome and genomic repositories and expand polygenic scores to include diverse populations. The goal is to add an inexpensive, broadly available genetic tool to the current diagnostic pathway where overnight sleep testing and specialty access are often limited. If successful, these scores could be used alongside symptoms and tests to shorten the time to a correct diagnosis.
Who could benefit from this research
Good fit: People with unexplained daytime sleepiness, suspected narcolepsy, or suspected circadian rhythm sleep-wake disorders—especially those willing to share genetic data or biospecimens—are the most likely candidates to benefit.
Not a fit: People whose sleep problems are clearly explained by other medical conditions or who are unwilling or unable to provide genetic data are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could shorten delays to correct diagnosis and reduce unnecessary tests for people with suspected narcolepsy and circadian rhythm disorders.
How similar studies have performed: Genetic risk scores have helped with diagnosis or risk stratification in other conditions and some genetic markers for narcolepsy are known, but applying pan-ancestry polygenic and rare-variant scores to these rare sleep disorders is largely novel.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Gottlieb, Daniel J — Brigham and Women's Hospital
- Study coordinator: Gottlieb, Daniel J
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.