Genetic drivers of family-linked fatty liver (NAFLD/NASH)
Official title: Modeling and Characterization of NAFLD Phenotypes in a Severely Affected Family
Funded at University of California, San Francisco · NIH-11237562 · Data updated 2026-11-12
Researchers will grow liver cells from family members' stem cells to find genes that cause and could be targeted to treat familial fatty liver (NAFLD/NASH).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | February 1, 2024 |
| Project end | November 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $669,949 |
| NIH project number | 5R01DK132129-03 |
| Project ID | NIH-11237562 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people with a strong family history of severe NAFLD/NASH or anyone willing to donate blood or skin samples so researchers can make patient-derived liver cells.
✕Less likely to help
People seeking immediate clinical treatment or whose liver disease is caused by unrelated factors (for example active viral hepatitis or alcohol use) are unlikely to get direct benefit from this lab-focused work.
What this research studies
The team turns patient blood or skin cells into induced pluripotent stem cells and then makes those cells into liver cells in the lab. They compare liver cells made from a single severely affected family with matched controls to see which genes drive fat buildup, ER stress, or inflammation. The researchers will knock out newly identified genes in control cells to see if that causes disease features and will test genes that look like possible therapy targets. All work is lab-based using human-derived cell lines developed at UCSF.
Why it matters
Potential benefit: If successful, this work could identify genes that cause familial NASH and point to new targets for treatments to prevent or reduce fatty liver damage.
How similar studies have gone: Other labs have used patient-derived iPSC-hepatocytes to reproduce fatty liver features and cellular stress, but translating those lab findings into approved patient treatments has been limited so far.
Where this research is happening
-
University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Mattis, Aras Nikodemas — University of California, San Francisco
- Study coordinator: Mattis, Aras Nikodemas
Related research
Other NIH-funded projects on the same topics.
-
Lipid signals that control acetyl-CoA and fat metabolism in NAFLD
A study exploring how membrane lipids influence acetyl-CoA metabolism to understand and potentially treat nonalcoholic fatty liver disease (NAFLD).
-
Long-term study of NAFLD progression and gut bacteria in diverse groups
We’re following people over time to see how the gut microbiome and diet relate to fatty liver disease progression in diverse racial/ethnic groups.
-
Genetic and environmental risk for fatty liver cancer in Latinos (GENIAL)
A study to understand why Latino people with fatty liver disease might be more likely to develop liver cancer and to use genetic and environmental clues to predict who is at higher risk.
-
Toxic fats, vitamin B12 loss, and AHR may drive fatty liver disease
This grant looks at how certain environmental chemicals may trigger liver damage linked to fatty liver disease and how a vitamin found in the blood could be affected.
-
Role of cholesterol metabolism in toxin-driven liver disease
This grant explores how a liver toxin called TCDD affects cholesterol and fatty liver disease, and how a key enzyme (HMGCR) might change that risk in adults.
-
Small blood particle signals and fatty liver in children and teens
Researchers are looking at whether molecules carried in tiny blood particles can explain or signal fatty liver disease in children and adolescents with excess weight.
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.