Genomics and the Way Forward for Paediatrics: Focus on Neuroscience and Rare Diseases

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Abstract Description

Professor David Rowitch MD PhD ScD FMedSci FRS is a developmental neuroscientist and Head of Paediatrics at the University of Cambridge. His laboratory in the Wellcome-MRC Cambridge Stem Cell Institute investigates genetic factors that determine diversity of glia, which comprise 90% of cells in the human brain.  


He has applied a developmental neuroscience perspective to better understand white matter injury in premature infants and multiple sclerosis, and he uses genomic technologies to better diagnose and treat serious neurogenetic disorders in children. An example of his pioneering work is on the rare, fatal leukodystrophy Pelizaeus-Merzbacher disease (PMD), which affects young boys, where conducted the first human clinical trial of direct neural stem cell transplantation. 


In this talk, Professor Rowitch will cover how advances in genomic technologies over 70 years in Cambridge are providing new opportunities for diagnosis new treatments to improve children’s health. He will describe new efforts in the UK National Health Services to bring cutting-edge genomic tools to the bedside for better diagnosis and precision medicine with a focus on neurological conditions such as epilepsy and cerebral palsy.

Abstract ID :
HAC1420
Submission Type
University of Cambridge

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