Comprendre l'histoire naturelle pour mieux orienter les interventions et services et la planification des essais thérapeutiques pour les personnes atteintes de maladies neuromusculaires

 

Cynthia Gagnon

Université de Sherbrooke

 

Domaine : génétique humaine

Programme chercheurs-boursiers - Junior 2

Concours 2015-2016

This research program focuses on patient affected by the most common neuromuscular diseases in Quebec. It aims to document the progression of impairments and disabilities and their impact on social participation among two specific neuromuscular diseases: myotonic dystrophy type 1 and autosomal recessive spastic ataxia of Charlevoix-Saguenay. These diseases affect the ability to work, to drive a car, to make the home maintenance and progressively to walk independently. A better understanding of the rate of progression will allow healthcare professionals to anticipate upcoming lost therefore providing better services and care. Also, this program aims to provide health professionals with knowledge about best practices for both diseases. This will be achieved with the development of innovative products designed to effectively transfer knowledge and to specifically address the needs of the health professionals while taking into account their clinical reality. These products will provide to know what to assess, how to evaluate it and how to interpret the results.