Robert Weiss

Robert Weiss is a Professor in the Department of Human Genetics at the University of Utah. His research focuses on the genetics and genomics of human neuromuscular disorders, particularly Duchenne muscular dystrophy (DMD) and fascioscapulohumeral muscular dystrophy (FSHD). His laboratory investigates mutation mechanisms, such as internal AUG start codon activation and pseudoexon inclusion, and explores how genomic variations influence disease progression and severity.

• DMD Studies: Mechanisms of loss-of-function mutations and modifier gene SNPs prolonging ambulation.
• FSHD Research: Epigenetic reactivation of DUX4 gene due to D4Z4 repeat contractions.

His work anticipates mutation-specific clinical trials and patient-specific therapeutics. Current projects include analyzing long-range genomic regulators (THBS1, LTBP4) and studying the historic Utah FSHD kindred for disease variability insights.