The Era of Bespoke Therapies for Genetic Neuromuscular Diseases

Abstract: Myology has been an indispensable centerpiece in our expanding understanding of basic biology, cellular physiology, and genetics over centuries. It has also been a constant partner in development of techniques to study cellular biology, histopathology, and disease pathogenesis. However, many primary disorders of skeletal muscle remain recalcitrant. With the recent advent of DNA- and RNA-directed therapies, a decades-long vision of treating patients with rare neuromuscular diseases seems within reach, although many barriers remain to be overcome. This presentation will give an overview of monogenic neuromuscular disorders from a physician-scientist viewpoint and provide a few concrete examples of approaches in the laboratory to study disease pathomechanisms, to identify therapeutic targets, and to develop bespoke/precision therapies for these rare diseases.

Bio: Dr. Mohassel is a physician scientist who specializes in myopathies, muscular dystrophies, and other hereditary neuromuscular disorders. He is also the co-director of the Johns Hopkins Myositis Center and a myopathologist. Dr. Mohassel obtained his medical degree from the Johns Hopkins University School of Medicine, where he remained for a medical internship, residency training in neurology, and clinical fellowship training in neuromuscular medicine. He then joined the National Institute of Neurological Disorders and Stroke Neurogenetics branch as a clinical research fellow under the mentorship of Prof. Carsten Bonnemann for 8 years, before returning to Johns Hopkins department of Neurology as faculty. Dr. Mohassel’s research focuses on translational studies in neurogenetic, neuromuscular disorders, and it spans gene discovery efforts, mechanistic studies to identify therapeutic targets, and early phase interventional clinical trials for rare neuromuscular diseases.

The Annual George Karpati Lecture honours a world-renowned neurologist and clinician-scientist who dedicated his remarkable career to The Neuro. Dr. Karpati was celebrated for advancing the diagnosis, treatment, and understanding of neuromuscular diseases, especially muscular dystrophy. Each year, his colleagues host this lecture to highlight recent progress in neuromuscular research and care, paying tribute to a beloved friend, mentor, and scientific leader.

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