A new Yale study identifies a drug that can prevent and reverse brain malformations associated with lissencephaly, a rare genetic disorder.
Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and currently there are no available treatments.
A new Yale study, however, has identified a molecular mechanism that underlies some lissencephaly disorders -- and a drug that prevents and reverses lissencephaly malformations in organoids (small, three-dimensional replicas of developing brains that allow scientists to study early brain development). Lissencephaly belongs to a group of disorders we call malformations of cortical development, meaning the normal development and structure of the brain is disrupted,' said Angeliki Louvi, professor of neurosurgery and of neuroscience at Yale School of Medicine (YSM) and co-senior author of the study.'They come about because certain genes that are very important for brain development are affected by rare mutations.' The new study builds on gene discovery research conducted by the Yale Program in Neurogenetics and pioneered by co-senior author Murat Gunel, Sterling Professor of Neurosurgery and professor of genetics and of neuroscience at YSM. For years, the program has collected blood samples from patients affected by brain malformations in order to identify genetic mutations associated with their disorder
Lissencephaly Brain Malformations Genetic Disorders Drug Discovery Organoids
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