About the Lab
The “Chromosome Segregation in Disease” Lab studies how the processes involved in chromosome segregation contribute to the etiology of human diseases, particularly rare syndromes.
Several studies, including our own, unraveledthat many genes identified in developmental disorders with clinical manifestations in the brain (e.g. microcephaly) encode proteins involved in mitotic machinery or functions related to the cell cycle regulation. We aim to understand the reasons that renders brain development more susceptible to defects in the mitotic machinery.
Also, age-associated neurodegenerative diseases are associated with aneuploidy. Yet, remains unclear the routes to aneuploidy that underlie these pathologies, including neurodegenerative rare syndromes.
See more about the lab here.