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Diagnostic delay in Duchenne muscular dystrophy and the case for newborn screening
Over the last 30 years, there has been very little improvement in the age of diagnosis of Duchenne muscular dystrophy. Despite numerous advocacy organizations’ efforts and high profile campaigns to raise public and professional awareness of this condition, a persistent diagnostic odyssey remains.
In recent years, new therapeutic approaches aimed at restoring dystrophin expression have been developed and approved, while others are in clinical trials, including gene therapy.
Newborn screening for DMD has been piloted in a number of centers around the world. There is a renewed interest and support for the case of NBS for DMD as demonstrated by the recent submission of a nomination package to add Duchenne to the Recommended Uniform Screening Panel (RUSP) in the USA.
Date:
8 December 2022, 13:00
Venue:
Online via Zoom
Speaker:
Prof. Emma Ciafaloni (University of Rochester, NY)
Organising department:
Department of Paediatrics
Organiser:
MDUK Oxford Neuromuscular Centre (University of Oxford)
Organiser contact email address:
strong@paediatrics.ox.ac.uk
Host:
Prof Laurent Servais (University of Oxford)
Booking required?:
Required
Booking url:
https://medsci.zoom.us/meeting/register/tJ0vcOqrpzMpH9cdzPbyVQ8xjmfXWkjLdTXn
Audience:
Oxford University and OUH
Editor:
Dominic Tromans
