Using genetics to improve diagnosis of narcolepsy and sleep 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-11051238 · Data updated 2026-11-12
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.
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 | 2025 |
| Award (this year) | $625,118 |
| NIH project number | 5R01HG012810-03 |
| Project ID | NIH-11051238 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals experiencing symptoms of narcolepsy or circadian rhythm sleep-wake disorders, particularly those who have faced challenges in obtaining a timely diagnosis.
✕Less likely to help
Patients with sleep disorders that are not related to narcolepsy or circadian rhythm issues may not benefit from this research.
What this research studies
This research aims to enhance the accuracy and speed of diagnosing narcolepsy and circadian rhythm sleep-wake disorders by leveraging genetic risk predictions. It addresses the significant delays in diagnosis, which can average six years, by developing polygenic scores that are applicable across diverse ancestry groups. The approach focuses on making genetic testing more accessible and affordable compared to traditional diagnostic methods, which often require specialized clinics and extensive insurance coverage. By integrating these genetic predictors into clinical practice, the research seeks to reduce misdiagnosis and improve health equity.
Why it matters
Potential benefit: If successful, this research could lead to faster and more accurate diagnoses for patients suffering from narcolepsy and circadian rhythm disorders, ultimately improving their treatment outcomes.
How similar studies have gone: Previous research has shown promise in using genetic risk factors to improve diagnosis in various medical fields, suggesting that this approach could be effective for sleep disorders as well.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Lane, Jacqueline Marie — Brigham and Women's Hospital
- Study coordinator: Lane, Jacqueline Marie
Related research
Other NIH-funded projects on the same topics.
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Using genetics to reduce misdiagnosis of narcolepsy and sleep-wake rhythm 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.
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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.