Roberta La Piana

Roberta La Piana, MD, PhD is an Assistant Professor in the Department of Neurology and Neurosurgery at the Montreal Neurological Institute (The Neuro), McGill University, with an associate appointment in the Department of Radiology. Her interdisciplinary work bridges clinical neurology, neuroradiology, and genetics.

Her primary research focuses on:

• Rare genetic white matter disorders and leukodystrophies
• Discrimination between genetic and acquired myelin disorders (e.g., multiple sclerosis)
• Imaging biomarkers in hereditary spastic paraplegia and cerebellar ataxias
• Genetic mechanisms of adult-onset neurological disorders

Analysis of her 15 most recent publications reveals consistent emphasis on neurogenetic disorders with strong neuroradiological correlation. Key trends include development of MRI scoring systems for leukodystrophies, exploration of genotype-phenotype correlations in POLR3-related disorders, and investigation of atypical presentations in conditions like Krabbe disease and Vanishing White Matter disease. Her work frequently employs advanced neuroimaging techniques to identify novel diagnostic pointers.

She founded the international White Matter Rounds initiative in 2013, connecting researchers and clinicians from over 15 global centers to discuss complex white matter disease cases. Her laboratory maintains strong collaborative ties with the Care4Rare Canada Consortium and international research networks.