Research Assistant Professor of Neurology
University of Pennsylvania
Precision Medicine Approaches to Understanding ALS Disease Heterogeneity
Amyotrophic lateral sclerosis (ALS) is a multi-system neurodegenerative disorder characterized clinically by progressive muscular weakness, as well as cognitive/behavioral dysfunction in 30-50% of patients. However, the risk of neuromuscular and cognitive impairments and their longitudinal trajectories are highly heterogeneous across individuals. The work in my laboratory leverages an integrative neuroscience approach through the use of multimodal and bioinformatic approaches to improve our understanding of the biological basis of heterogeneity in neurodegenerative conditions. In this talk I will highlight several scales of genomic analyses including the study of autosomal dominant (e.g., familial) ALS, epigenetic modifiers of ALS, and machine-learning tools to uncover polygenic contributions to ALS disease heterogeneity. Together, by testing biologically-grounded hypotheses with novel analytic and multimodal approaches of genomic, neuroimaging, and clinical datasets this work aims to uncover the biological mechanisms of disease heterogeneity and translate clinical research into targeted precision medicine therapies for the treatment of ALS and related disorders.
A pizza lunch will be served. Please note that this seminar will be held in the SAIL Room, rather than our usual location in Barchi Library.