NAISS
SUPR
NAISS Projects
SUPR
In-depth characterization of splice variants in MASLD
Dnr:

sens2025700

Type:

NAISS SENS

Principal Investigator:

Carlos Gallardo Dodd

Affiliation:

Karolinska Institutet

Start Date:

2025-11-28

End Date:

2026-12-01

Primary Classification:

10609: Genetics and Genomics (Medical aspects at 30107 and agricultural at 40402)

Webpage:

Allocation

Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease globally and represents a growing healthcare burden. Alternative splicing (AS), a major contributor to proteomic diversity, remains largely unexplored in MASLD despite its potential to reveal novel disease mechanisms, biomarkers, and therapeutic targets. This project will generate a high-resolution map of transcriptomic and isoform-level changes across MASLD disease stages by integrating short-read (Illumina) and long-read (Oxford Nanopore) RNA sequencing technologies. We will identify splicing-driven biomarkers, molecular subtypes, and splice variant-derived neoepitopes for clinical applications including liquid biopsy development and personalized medicine. This project involves sensitive personal data from human liver biopsies and matched liquid biopsy samples. Processing is covered by a Data Processing Agreement (personuppgiftbiträdesavtal) with Karolinska Institutet.