3 April 2016

Rare Diseases: Sherbrooke Biochemist Receives Support from Shire

Professor and researcher Christiane Auray-Blais has been granted more than $920 000 in financial support by the biopharmaceutical company Shire for her research on rare genetic diseases.

The three studies led by the biochemist, on Fabry, Gaucher, and mucopolysaccharidosis diseases, are related to preventive genetic medicine, i.e. they are aimed at providing faster diagnoses and better patient management.

To achieve these goals, Dr. Auray-Blais’ team is working to discover effective biomarkers for these diseases, particularly using mass spectrometry.

Centre de recherche du CHUS - Shire

André Larocque (Fondation du CHUS), Dr William D. Fraser (CRCHUS), Dr Pierre Cossette (Université de Sherbrooke), Christiane Auray-Blais (CRCHUS et UdeS), Dr Hartmann Wellhoefer (Shire), Dr Bruno Maranda (CIUSSS de l’Estrie – CHUS), and Sylvain Bernier (CIUSS de l’Estrie – CHUS)

The three diseases studied are related to lysosomes, which are considered to be a cell’s digestive tract. The diseases present as a variety of severe problems—cardiac, renal, skeletal, blood abnormalities, increased liver and spleen volume, etc.

Next, Dr. Auray-Blais, who is associated with the Centre de recherche du CHUS (CRCHUS – Research Centre) and the Université de Sherbrooke’s Faculty of Medicine and Health Sciences, aims to develop dosing methods to ensure proper cell function.

Sources: CRCHUS and La Tribune
Crédit photo : CRCHUS

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