Improving diagnosis of rare diseases using advanced genetics.
Improving Rare Disease Diagnosis With Advanced Genetics and Long Read Sequencing
['FUNDING_OTHER'] · CLEMSON UNIVERSITY · NIH-11015936
This study is working to improve how we diagnose rare genetic diseases by using advanced DNA testing to find more types of genetic changes, which could help more people get the answers they need about their health.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CLEMSON UNIVERSITY (nih funded) |
| Locations | 1 site (CLEMSON, UNITED STATES) |
| Trial ID | NIH-11015936 on ClinicalTrials.gov |
What this research studies
This research focuses on enhancing the diagnosis of Mendelian diseases, which affect a significant portion of the population. It aims to improve genetic analysis techniques by utilizing whole genome sequencing (WGS) to capture a broader range of genomic variations. The study addresses the limitations of current methods that often leave patients without a molecular diagnosis, by exploring non-coding variants and structural rearrangements that are typically overlooked. By advancing our understanding of these genetic factors, the research seeks to provide clearer insights into rare diseases and their underlying causes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals and families affected by Mendelian diseases who have not yet received a definitive molecular diagnosis.
Not a fit: Patients with common diseases or those whose conditions are well understood and easily diagnosed may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses for patients with rare genetic disorders, potentially guiding better treatment options.
How similar studies have performed: Previous research has shown promise in using advanced sequencing techniques to improve genetic diagnosis, indicating that this approach could yield significant advancements.
Where this research is happening
CLEMSON, UNITED STATES
- CLEMSON UNIVERSITY — CLEMSON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ARNO, GAVIN — CLEMSON UNIVERSITY
- Study coordinator: ARNO, GAVIN
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.
Conditions: Candidate Disease Gene