Genetic drivers of family-linked fatty liver (NAFLD/NASH)
Modeling and Characterization of NAFLD Phenotypes in a Severely Affected Family
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 ID | NIH-11237562 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: 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.
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 performed: 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
San Francisco, United States
- 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
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.