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Hosted by Professor Laurent Servais



This seminar is intended for the personnel and students at the University of Oxford and the Oxford University Hospitals Foundation Trust.

Online Seminar – please register for this Zoom event.


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.


Dr. Ciafaloni is the Robert C. and Rosalyne H. Griggs Professor in Experimental Therapeutics of Neurologic Disease, Professor of Neurology and Pediatrics at the University of Rochester, in Rochester, NY where she is the Director of the Pediatric Neuromuscular Medicine Program and the Neuromuscular NBS Clinic. She graduated from Medical School at the Universita’ Statale di Milano, in Milano, Italy, did a post-doc fellowship at Columbia University in mitochondrial diseases in the lab of Prof. Di Mauro, and a Neurology Residency and Neuromuscular Fellowship at Duke University. She has devoted her 25-year career to the diagnosis and treatment of adult and pediatric patients with neuromuscular diseases, particularly patients with muscular dystrophies, SMA, Duchenne, and myasthenia gravis.

As Program Director of the Neuromuscular Medicine Fellowship for the past 17 years, she has trained and mentored many neuromuscular physicians. Her research interests have focused on experimental therapeutics in neuromuscular disease and she has been involved in clinical trials in pediatric and adult neuromuscular diseases. She is a PI in the surveillance for muscular dystrophies CDC funded MD STARnet network, and has done studies on pregnancy outcome in women with neuromuscular diseases. She is Principal Investigator for several multi-center national and international clinical trials in neuromuscular diseases in adults and children. She is currently in Oxford on an academic sabbatical. 


Seminar series