Meet Our Researchers

Fabio Cunial

Senior Computational Scientist II, Data Sciences Platform at the Broad Institute
Project Description

"Somatic variation is full of open questions that connect computation to biology—especially in the liver. That’s what makes it so exciting."

The Question

Why do people with similar risk factors have different outcomes from liver disease? While all the cells in our body share the same DNA blueprint, they acquire mutations throughout our lives. These acquired mutations, known as somatic variation, may help explain differences in disease risk and progression. Fabio’s project will probe how somatic variation affects genes linked to liver disease—from those that increase risk to those that offer protection.

The Approach

In collaboration with researchers mapping genetic variation across human tissues, Fabio will use emerging “long-read” sequencing technology to generate DNA and RNA datasets from liver tissue. Unlike traditional “short-read" methods that capture DNA in small fragments, long-read sequencing reads much longer stretches of DNA and enables detection of both small and large variations, even in complex or repetitive regions of the genome. Fabio will focus on genes tied to fatty liver disease and alcohol-related liver injury, working with a liver metabolism lab at Massachusetts General Hospital to test the effects of key variants. He aims to illuminate fundamental mechanisms of liver disease, offering a clearer view of how genetic variation shapes organ health over a lifetime.