Exploring genetic variations related to elastin and similar genes
Official title: Collaborative Research to Explore Genetic Variation and Phenotypic Spectrum of Elastin and Related Genes
Funded at Geisinger Clinic · NIH-10825512 · Data updated 2026-11-12
This study is looking at how changes in certain genes related to elastin can affect people in different ways, and it's for anyone interested in understanding the various health issues that might come from these genetic differences.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Geisinger Clinic NIH-funded |
| Lab location | 1 site (Danville, United States) |
| Project start | March 20, 2020 |
| Project end | February 28, 2026 |
| Funding year | 2024 |
| Award (this year) | $615,941 |
| NIH project number | 5U01HL146188-05 |
| Project ID | NIH-10825512 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known or suspected connective tissue disorders, particularly those exhibiting symptoms related to elastin gene variations.
✕Less likely to help
Patients without any connective tissue disorders or genetic variations related to elastin may not benefit from this research.
What this research studies
This research investigates the genetic variations associated with elastin and related genes to better understand the wide range of clinical features that can arise from these genetic changes. By utilizing advanced exome sequencing techniques, the study aims to identify and characterize the phenotypic spectrum linked to these genetic variations, moving from genetic data to clinical manifestations. The research involves collaboration between institutions to leverage extensive medical records and genomic data, allowing for a comprehensive analysis of affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with connective tissue disorders and related conditions.
How similar studies have gone: Previous research has shown success in identifying genetic variations linked to specific phenotypes, suggesting that this approach could yield valuable insights into connective tissue disorders.
Where this research is happening
-
Geisinger Clinic
Danville, United States Active
Researchers
- Principal investigator: Williams, Marc S. — Geisinger Clinic
- Study coordinator: Williams, Marc S.
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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.