MFCEM Dialogues #12
by
Dr. Umrao Monani,
De Vivo Professor of Neurology, Columbia University Medical Center
on
Title of the talk: : Mechanisms underlying infantile-onset spinal muscular atrophy: Clues from a novel disease modifier.
20th August 2024
Dr. Umrao Monani is the De Vivo Professor of Neurology at the Columbia University Medical Center and is the Director of the Colleen Giblin Research Laboratory at the medical centre.
Dr. Monani’s lab is dedicated to the study of rare pediatric neurological diseases with a view to eventually treating them.
Dr. Monani has received several awards including the American Academy of Neurology Young Investigator Award, the Sanofi Innovator Award, the 2023 Humanitarian Award from the Hope for Children Research Foundation and the Darryl C. De Vivo Endowed Professorship at Columbia University.
He has spent three decades in the study of the neuromuscular disorders, such as the spinal muscular atrophy (SMA). He was amongst the first to develop viable SMA model mice and his work has informed SMN repletion treatments for the human disease. Dr. Monani’s lab continues to investigate the basic biology of SMA with a view to refining current treatments.
In his talk, Dr. Monani shared some recent insights from his lab on genetic modifiers of SMA. He presented Hspa8, a synaptic chaperone variant, which suppressed SMA phenotypes. Dr. Monani displayed how the expression of the variant in the severely affected mutant mice improved motor performance, and mitigated neuromuscular pathology, and overall increased life span by more than 10 folds.
Post the scientific session Dr. Monani interacted with the students, wherein he shared his academic journey. He stressed the importance of pursuing a research problem with single focus and undeterred determination. While at the same time he strongly emphasized the importance of a healthy work-life-balance.
