Finding genetic causes of Joubert syndrome and similar recessive disorders
Identifying the missing heritability in recessive disorders using Joubert syndrome as a model
This study is looking at the genes that might cause Joubert syndrome to help find answers for families affected by it, especially for those who haven't yet received a genetic diagnosis, with the hope of improving understanding and treatment options for the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-10668289 on NIH RePORTER |
What this research studies
This research focuses on uncovering the genetic factors that contribute to Joubert syndrome, a neurodevelopmental disorder, by exploring both known and unknown genetic variants. The team will analyze genetic data from affected families to identify rare genetic variants that may not be linked to traditional recessive inheritance patterns. By using advanced genomic techniques, they aim to discover new genes and mechanisms that could explain the condition in individuals who currently lack a genetic diagnosis. This work could lead to better understanding and potential treatments for Joubert syndrome and related disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Joubert syndrome or other genetically recessive conditions who have not yet identified a genetic cause for their disorder.
Not a fit: Patients with non-recessive genetic disorders or those whose conditions are not related to Joubert syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic testing and targeted therapies for patients with Joubert syndrome and other recessive disorders.
How similar studies have performed: Previous research has successfully identified genetic causes in similar conditions, suggesting that this approach may yield valuable insights.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Doherty, Daniel — University of Washington
- Study coordinator: Doherty, Daniel
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.