Research

From Genetics to Experimental Models

Human Genetics

Understanding the molecular basis of neuromuscular disease.

Zebrafish Models

Studying muscle development and disease in living systems.

Mouse Models

Investigating disease mechanisms and evaluating therapies.

From disease mechanisms to therapeutics

Skeletal muscle function depends on the coordinated regulation of contractile architecture, protein homeostasis, cellular metabolism, and responses to physiological demands. Disruption of these interconnected processes can compromise muscle integrity and function across a wide spectrum of neuromuscular disorders.

Our research investigates the molecular mechanisms underlying skeletal muscle dysfunction, with a particular emphasis on how genetic variation and cellular responses to physiological stress influence disease onset, progression, and severity. Using human genetic studies, zebrafish and mouse models, molecular and cellular approaches, and therapeutic development, we aim to identify mechanisms that can be targeted to preserve and restore muscle function.

01

Genetic and molecular mechanisms

We study how genetic variation and changes in molecular pathways contribute to neuromuscular disorders, linking molecular findings to the biology of muscle disease.

02

Muscle structure and function

We investigate the processes that support muscle development, sarcomere organization, cellular maintenance, and force generation, and how these processes are altered in disease.

03

Experimental models

We use zebrafish, mice, and cellular models to examine disease mechanisms in biological context and evaluate changes in muscle structure and performance.

04

Therapeutic Development: Gene Therapy and Small Molecules

We develop and evaluate gene therapies and small-molecule approaches to restore muscle function, translating mechanistic discoveries into preclinical therapeutic strategies.