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The Feindel Virtual Brain and Mind Seminar presents "Rare CNVs and Phenome-wide Profiling: A tale of Divergence and Convergence"Ìý

Registration available .

Speaker:ÌýJakub Kopal

Postdoctoral Fellow,ÌýDepartment of Biomedical Engineering, Faculty of Medicine, and School of Computer Science, ÁùºÏ²Ê¿ª½±½á¹û, Montreal, QC, Canada

Abstract:ÌýCopy number variations (CNVs) are rare genomic disorders with consequences on the brain and behavior, including a high risk for neuropsychiatric illness. Polygenicity and pleiotropy imply that different CNVs converge on shared mechanisms at some level, from genes to large-scale brain networks to the phenome. However, isolated studies have investigated single CNV loci at a time in small clinical samples. Consequently, it remains unknown why diverse CNVs increase the risk for the same developmental psychiatric disorders. Here, we dissected the impact on brain organization and behavioral differentiation across 8 different CNV loci. We explored CNV-specific brain patterns distilled from multisite clinical samples. Further, we extensively annotated them with deep phenotyping through the UK Biobank. Despite causing disparate brain morphologies, the 8 CNVs broadly agreed on the phenome-wide profiles across ~1000 lifestyle indicators. Our population-level confrontation established the structural divergences and phenotypical convergences of multi-gene mutations, with direct relevance to major neuropsychiatric illness.

µþ¾±´Ç:ÌýJakub Kopal completed his Ph.D. in neuroscience under joint supervision from the University of Chemistry and Technology in Prague (Czech Republic) and Université Toulouse III – Paul Sabatier (France) in 2021. In his thesis, he focused on the role of connectivity in brain functioning. Currently, he is working as a postdoctoral fellow at the intersection of neuroscience and genetics in the group of Danilo Bzdok at ÁùºÏ²Ê¿ª½±½á¹û and Sébastien Jacquemont at the University of Montreal. His research interests include neuroscience, data analysis, and data visualization. Otherwise, he enjoys pickles and random facts.

The Feindel Virtual Brain and Mind (VBM) Seminar Series will advance the vision of Dr. William Feindel (1918–2014), Former Director of the Neuro (1972–1984), to constantly bridge the clinical and research realms. The talks will highlight the latest advances and discoveries in neuropsychology, cognitive neuroscience, and neuroimaging.

Speakers will include scientists from across The Neuro, as well as colleagues and collaborators locally and from around the world. The series is intended to provide a virtual forum for scientists and trainees to continue to foster interdisciplinary exchanges on the mechanisms, diagnosis and treatment of brain and cognitive disorders.