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Dr Jack Puymirat biography

          Dr. Jack Puymirat is the director of  Human Genetics Unit located in the CHUL Research Center. He is a Professor at Laval University (Department of Medicine) and scientific director of the Molecular Diagnosis Laboratory, CHUL, Quebec. He is a Neurologist member of the clinic of neuromuscular diseases at IRDPQ and CHUL.

          Dr. Jack Puymirat is also member of the World Muscle Society and International Committee of Myotonic Dystrophy Consortium.

Click to obtain Dr Jack Puymirat 's full CV 

 

Lab activities

             The major aim of the Puymirat lab is to develop a genetic therapy for Steinert dystrophy. During the last few years, the Puymirat lab developed a genetic approach capable of restoring normal functions of the affected human muscle cell. Indeed, Steinert dystrophy is caused by an abnormal accumulation of RNA in the nucleus of muscle cells. The therapy developed by the Puymirat lab is based on the specific destruction of RNA using antisense RNA and ribozymes. The research group showed in vitro that specific destruction of mRNA restored normal functions of the cell. In vivo, intramuscular injection of vectors producing antisense RNA or ribozymes reduced the levels of mutated RNA by 80%. The team is currently studying the effectiveness of this therapy in mice carrying the pathology.

             The Puymirat laboratory is also interested in the study of mechanisms responsible for this pathology, particularly on the identification of abnormally produced proteins. Dr Puymirat's research group is also studying mechanisms responsible for congenital forms of the disease. 

              In addition, Dr Puymirat's team is interested in developing tools in order to quantify the deficit caused by this pathology and on the use of muscle imagery (MRI and PET scan) to quantify muscle functions. Researchers of the Puymirat lab also conduct clinical trials aimed at reducing the symptoms of the disease. Finally, Dr Jack Puymirat is responsible for the Provincial Network of Neurogenetics and for the clinical diagnosis laboratory.

 

The Jack Puymirat Lab. is supported by:

French Association against Myopathies (AFM)

Canadian Institutes of Health Research (CIHR)

Muscular Dystrophy Association (MDA)

Muscular Dystrophy Canada

ALS society of Canada

Human genetic department

2705,  Laurier Boulevard. RC-9300. Quebec (Quebec) Canada. G1V 4G2. Phone: +1 (418) 654-2186. Fax: +1 (418) 654-2207.

E-mail: sec.genetique@crchul.ulaval.ca

Institut de Réadaptation en Déficience Physique de Québec

525, Hamel Boulevard . Quebec (Quebec) G1M 2S8

Phone : 418-529-9141

 

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