Meet Our Researchers

VIJAY GANESH

Postdoctoral Scholar, Program in Medical and Population Genetics at the Broad Institute

Vijay Ganesh is improving the genetic diagnosis of rare neuromuscular disorders.

Project Description

Despite major advances in genome sequencing technologies over the past few decades, the majority of individuals with a suspected genetic disease still lack a confirmed diagnosis. This unmet need is especially prevalent for neurogenetic disorders. As a neurologist at Brigham and Women’s Hospital, Vijay will tackle this challenge with his BroadIgnite project. Specifically, he will partner with the Broad Proteomics Platform, deploying machine-learning approaches to develop an assay that detects protein expression outliers from individuals with unsolved rare genetic diseases. Vijay’s goal is to develop a scalable method from clinically-accessible tissues that can both augment novel gene discovery and resolve variant-to-function associations, ultimately shortening the diagnostic odyssey for patients and potentially informing tailored genetic therapies.