A team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner workings of gene mutations that result in an ultra-rare syndrome with fewer than 100 reported cases since its first description in the early 1960s.
Mar 18 2024University of Ottawa A team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner workings of gene mutations that result in an ultra-rare syndrome with fewer than 100 reported cases since its first description in the early 1960s.
The study of rare diseases of neurodevelopmental disorders and cognitive impairments advances our understanding of underlying mechanisms of disease pathogenesis and lays the foundation for the design of novel therapeutics." First author Dilan Rasool, a visiting scholar at uOttawa who is a member of Dr. Jahani-Asl's lab and a PhD candidate at McGill, says she used several different mouse models of the disease and established that they exhibited altered neural stem cells and progenitor populations, as well as deregulation of ephrin receptors, which are proteins involved in wide range of processes in developing human embryos.
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