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Modeling and Characterization of NAFLD Phenotypes in a Severely Affected Family

Award Number: R01DK132129
ORGANIZATION: NATIONAL INSTITUTE OF DIABETES & DIGESTIVE & KIDNEY DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 02/01/2024
PERIOD OF PERFORMANCE END DATE: 11/30/2027

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Modeling and Characterization of NAFLD Phenotypes in a Severely Affected Family - PROJECT SUMMARY/ABSTRACT This is a research grant application for a study being undertaken in the laboratory of Dr. Aras Mattis, a Scientist at the University of California, San Francisco (UCSF). This grant will provide support for the Mattis lab to conduct this research over the five-year term of this project. Differentiation of patient induced pluripotent stem cells (iPSCs) to hepatocytes (iPSC-Heps) has incredible value for modeling and experimental treatment of human hepatic disease. My lab has significant expertise in the differentiation of iPSCs to human hepatocytes and therefore modeling of liver diseases. The major goal of this project is to use iPSC-Hep cell lines that we have developed from a single family of patients with NASH and matched controls to study modeling of NAFLD in vitro and the relationship of novel genes we uncovered to the disease process. First, we will use the iPSC-Hep model to test a set of genes with unknown function for involvement in NAFLD. We uncovered these genes by sequencing this family with severe and penetrant NASH. Furthermore, we will test loss of function knockouts of these novel genes in control iPSC- Heps, for their ability to cause steatosis, endoplasmic reticulum (ER) stress, and/or inflammatory pathway activation. Finally we will test a set of genes we uncovered as potentially therapeutic targets. The specific experimental aims of this project are to 1) Identify NAFLD pathways modeled in patient 7017 familial NASH iPSC-Heps, 2) Establish contribution of known SNPs and novel genes for involvement in NAFLD Phenotypes, and 3) Test our previously identified genes as therapeutic targets in 7017 iPSC-Heps. This project follows the mission of the NIH to support medical research on hepatic diseases with the potential for clinical translational use.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $669,949 )
2026	2026	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94103	SAN FRANCISCO	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	3	12/11/2025	NON-COMPETING CONTINUATION	$669,949
														Subtotal = $669,949

Issue Date FY: 2025 ( Subtotal = $602,955 )
2025	2025	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94103	SAN FRANCISCO	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	2	11/25/2024	NON-COMPETING CONTINUATION	$602,955
														Subtotal = $602,955

Issue Date FY: 2024 ( Subtotal = $669,949 )
2024	2024	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94143	SAN FRANCISCO	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	1	1/29/2024	NEW	$669,949
														Subtotal = $669,949

Grand Total All Awards = $1,942,853

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Modeling and Characterization of NAFLD Phenotypes in a Severely Affected Family

Award Number: R01DK132129

ORGANIZATION: NATIONAL INSTITUTE OF DIABETES & DIGESTIVE & KIDNEY DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 02/01/2024

PERIOD OF PERFORMANCE END DATE: 11/30/2027

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