Understanding liver disease through rare conditions
Official title: Liver Pathobiology: insights through the lens of rare diseases
Funded at Yale University · NIH-11085227 · Data updated 2026-11-12
This study is looking at chronic liver disease to find new ways to understand and treat it better, especially for people with rare liver conditions, so we can help reduce the need for liver transplants.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | July 1, 2022 |
| Project end | April 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $491,654 |
| NIH project number | 5R01DK131033-04 |
| Project ID | NIH-11085227 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with rare liver diseases or unexplained liver dysfunction.
✕Less likely to help
Patients with common liver diseases that are well understood and have established treatment protocols may not benefit directly from this research.
What this research studies
This research investigates chronic liver disease, which affects over a billion people worldwide and can lead to severe complications like liver fibrosis and cirrhosis. By studying individuals with rare liver conditions, the research aims to uncover new molecular mechanisms that contribute to liver pathology. The goal is to develop better diagnostic and therapeutic tools to reduce the need for liver transplants. Patients may be involved in providing genetic and clinical data to help identify these mechanisms.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and diagnostic methods for chronic liver disease, potentially reducing the need for liver transplants.
How similar studies have gone: Previous research has shown promise in using rare disease phenotypes to uncover insights into common conditions, suggesting this approach could be beneficial.
Where this research is happening
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Yale University
New Haven, United States Active
Researchers
- Principal investigator: Vilarinho, Silvia — Yale University
- Study coordinator: Vilarinho, Silvia
Related research
Other NIH-funded projects on the same topics.
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Liver pathobiology from rare liver diseases
A study at UCSF looks at why rare liver conditions cause liver damage, with the aim of finding new ways to diagnose and treat chronic liver disease.
-
Data Management and Coordinating Center support for Rare Diseases Research
A national rare diseases research program is funding a center to manage data and coordinate studies to help improve diagnosis, care, and potential treatments for children with rare conditions.
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EEG-based drug repurposing for rare CNS diseases
A new approach uses EEG brain signatures to find existing drugs that might help people with rare nervous-system disorders.
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Ethics of Engaging Patient Groups in Drug Development for Rare Diseases
This grant asks how patient and family groups can ethically help shape rare-disease drug development from idea to market, with input from patients, families, doctors, and researchers.
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Center for Polyamine Disorders group study of rare metabolic disorders
A research consortium is studying a group of rare metabolic disorders linked to polyamines and aims to understand symptoms, biomarkers, and disease progression to improve care.
-
Encore: speeding up finding new uses for existing drugs to help kids with rare diseases
A big NIH project will test thousands of existing medicines to see if any can help treat rare genetic diseases in children.
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.