Alexandra Durr, Sorbonne Université and Paris Brain Institute, France
Alexandra Durr is a professor and consultant at the Sorbonne University in Paris, France. She has a MD and a PhD in medical genetics, specialises in neurology, and has also been working in translational neurogenetics for many years. Her thorough clinical expertise has allowed her to identify the molecular bases of rare neurogenetic diseases. Since 1992, she has worked with individuals with premanifest mutations (ie, mutation carriers without clinical signs of the disease), pioneering the first presymptomatic testing for neurogenetic diseases in France. Genetic advances are used by her team at the ICM Institute to understand disease pathophysiology and to set up innovative therapies. To prepare for this new era of genetic therapeutics, Professor Durr is developing progression markers for the premanifest phase of neurodegenerative diseases to determine the best therapeutic window and help to ensure that the disease does not develop further. She has created and animated the French national reference center for rare neurogenetic diseases and the international SPATAX network (https://spatax.wordpress.com/the-network-2/). She belongs to the list of highly cited researchers generated by Clarivate Analytics (Web of Science) in 2018.
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