Using genetics to reduce misdiagnosis of narcolepsy and sleep-wake rhythm disorders
Official title: 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.
Funded at Brigham and Women's Hospital · NIH-11261119 · Data updated 2026-11-12
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 start | March 16, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $630,757 |
| NIH project number | 5R01HG012810-04 |
| Project ID | NIH-11261119 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
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.
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.
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 gone: 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
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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
Related research
Other NIH-funded projects on the same topics.
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Using genetics to improve diagnosis of narcolepsy and sleep disorders.
This study is working to make it easier and faster for people with narcolepsy and sleep-wake disorders to get the right diagnosis by using genetic tests that are affordable and can help everyone, no matter their background.
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This NIH grant aims to understand why some people, including teens and adults, have DSWPD and how to develop better circadian-based treatments to improve sleep and daily functioning.
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A study in teens aims to understand how sleep patterns and daily rhythms influence risk-taking and substance use by looking at brain circuits involved in reward and control.
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Circadian Rhythm Sleep Disorder: Understanding Why Some People Sleep Late
A study at Northwestern University is exploring why some people with delayed sleep patterns have different light sensitivity and how this affects their sleep timing, with the goal of personalizing treatment for those with DSWPD.
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.