The scientific organizing committee of the course involves:
· Prof. Shamima Rahman, UCL Great Ormond Street Institute of Child Health, London
· Prof. Pascal Laforêt, French reference centre for neuromuscular diseases North, East and Paris region - Raymond-Poincaré Hospital, Garches
· Dr Angeles Garcia-Cazorla, Neurometabolic Unit/Synaptic Metabolism Lab, Hospital Sant Joan de Déu, Barcelona
The target audience of this course involves pediatricians, neurologists, neuromuscular specialists, internists, cardiologists, geneticists, biochemists, and other clinicians and scientists willing to improve their knowledge of the diagnosis and treatment of primary mitochondrial disorders.
The learning objectives include:
To describe the pathophysiology, frequency, and clinical symptoms of the main primary mitochondrial disorders presenting in children and adults.
To describe the main diagnostic tools (exercise tests, muscle biopsy, biochemical and molecular analysis) and to discuss their respective positions in the diagnostic work-up.
Familiarizing with the differential diagnosis of mitochondrial disease.
To provide guidance for genetic counselling and reproductive options.
To describe current treatments and recommended surveillance for patients affected by primary mitochondrial disease.Participants will be encouraged to bring challenging and/or informative cases for discussion.
The full course details and and online registration can be accessed on our website: www.rrd-foundation.org. Deadline for registering is 11th of February.
Contact: Cecilia Kellquis, Recordati Rare Diseases foundation: firstname.lastname@example.org