Exploring genetic causes of rare diseases using advanced genomic techniques
Stanford Mendelian Genomics Research Center
This study is looking for hidden genetic causes of rare inherited diseases in people who have symptoms but haven't yet been diagnosed, using advanced technology to help find answers that could lead to better treatments.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11078340 on NIH RePORTER |
What this research studies
This research focuses on identifying genetic variants responsible for rare Mendelian diseases by utilizing cutting-edge genomic technologies. It aims to analyze a cohort of individuals who have not yet received a genetic diagnosis despite showing symptoms of a Mendelian disorder. The study employs a combination of long-read whole genome sequencing, RNA-sequencing, and various epigenomic and metabolomic assays, alongside innovative computational methods for better gene and phenotype matching. By integrating these approaches, the research seeks to uncover new disease genes and variants that could lead to improved diagnosis and treatment options for patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with undiagnosed rare genetic diseases who exhibit symptoms consistent with Mendelian disorders.
Not a fit: Patients with well-characterized genetic conditions or those who have already received a definitive diagnosis may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly increase the rate of genetic diagnoses for individuals with rare diseases, leading to more targeted and effective treatments.
How similar studies have performed: Previous research has shown promising results using similar genomic approaches, indicating a strong potential for success in this novel application.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Montgomery, Stephen — Stanford University
- Study coordinator: Montgomery, Stephen
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.