Projects

This page is a work in progress. Check back soon to learn about our ongoing research!

DM1 (Myotonic Dystrophy Type 1)

• Exploring how repeat length influences epigenetic and chromatin changes at the disease locus
• Investigating regulatory elements that may contribute to disease severity
• Applying advanced sequencing technologies to capture genomic complexity missed by standard approaches
• Studying brain and behavioral phenotypes across a novel animal model system

TANGO2 Deficiency Disorder

• Using model organism systems to investigate the metabolic basis of acute TANGO2-related crises
• Profiling metabolic pathways implicated in disease decompensation
• Screening for candidate therapeutic compounds using high-throughput platforms
• Leading international consensus efforts to guide acute clinical management

DMD (Duchenne Muscular Dystrophy)

• Developing molecular suppression strategies in patient-derived cell models to restore protein production disrupted by specific genetic mutations