Dr. Jack Puymirat M.D., Ph.D., is a neurologist, clinician-scientist at the CHU Research Centre of Quebec, and professor in the Department of Medicine at Laval University. His work focuses on the study of neuromuscular diseases, headaches, as well as the development of a platform for the production of induced pluripotent human stem cells. Recently, his work on stem cell production was featured on Radio-Canada’s Découverte program. He has received several nominations, including the 2006 Researcher of the Year Award from Muscular Dystrophy Canada and the 2011 Hans Steinert Award from international myotonic dystrophy (Steinert’s disease) consortium.

Research on neuromuscular diseases

Steinert myotonic dystrophy is a muscular dystrophy that is 20 times more prevalent in the Saguenay-Lac-Saint-Jean region than anywhere else in the world. In 2000, it was established that the disease was due to the accumulation of mutated RNAs in the cell nucleus. Dr. Puymirat’s research has focused on the development of gene therapy, based on the destruction of toxic RNAs by antisense oligonucleotides. In 2016, his work led to the first Phase 1 clinical trial in the United States. In parallel with his research, Dr. Puymirat and his team have a clinical research program focusing on: 1) The establishment of a provincial registry for this disease to facilitate research and patient participation in clinical trials. 2) The development and validation of protocols for the quantification of muscle strength, the study of muscle imaging and the search for biomarkers of the disease for future clinical trials. 3) The development of genetic tests for various neuromuscular diseases, tests which are now used clinically and offered to the population of Quebec.

The induced pluripotent stem cells production platform (iPSC)

Thanks to the financial support of Brain Canada, Dr. Puymirat and his team have developed a platform for the production of induced pluripotent human stem cells. These cells can be derived from skin, blood, urine and immortalized lymphoblastic cell lines. These cells can differentiate into various cell types, particularly neurons, muscle cells and heart cells. They are used to model neurodegenerative, neuromuscular and psychiatric diseases, screen drugs, and develop cell therapies.

Pharmacogenomics in migraine

This research aims to identify blood molecular markers that are predictive of the response to different drugs used in the treatment of migraine. As a first step, Dr. Puymirat and his team are developing a migraine patient registry, which is essential for genomics studies. This registry contains information on the response to different drugs and will be extended to the CHUM as well as the Montreal Neurological Institute.

 

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Furling D, Marette A, Puymirat J

Insulin-like growth factor I circumvents defective insulin action in human myotonic dystrophy skeletal muscle cells.

Journal Article

Endocrinology, 140 (9), pp. 4244-50, 1999, ISSN: 0013-7227.

Abstract | Links:

Skuk D, Furling D, Bouchard JP, Goulet M, Roy B, Lacroix Y, Vilquin JT, Tremblay JP, Puymirat J

Transplantation of human myoblasts in SCID mice as a potential muscular model for myotonic dystrophy.

Journal Article

J Neuropathol Exp Neurol, 58 (9), pp. 921-31, 1999, ISSN: 0022-3069.

Abstract | Links:

Denver RJ, Ouellet L, Furling D, Kobayashi A, Fujii-Kuriyama Y, Puymirat J

Basic transcription element-binding protein (BTEB) is a thyroid hormone-regulated gene in the developing central nervous system. Evidence for a role in neurite outgrowth.

Journal Article

J Biol Chem, 274 (33), pp. 23128-34, 1999, ISSN: 0021-9258.

Abstract | Links:

Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication.

Journal Article

Can J Neurol Sci, 26 (3), pp. 196-200, 1999, ISSN: 0317-1671.

Abstract | Links:

Vilquin JT, Guérette B, Puymirat J, Yaffe D, Tomé FM, Fardeau M, Fiszman M, Schwartz K, Tremblay JP

Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles.

Journal Article

Gene Ther, 6 (5), pp. 792-800, 1999, ISSN: 0969-7128.

Abstract | Links:

Baas D, Puymirat J, Sarliève LL

Posttranscriptional regulation of oligodendroglial thyroid hormone (T3) receptor beta 1 by T3.

Journal Article

Int J Dev Neurosci, 16 (6), pp. 461-7, 1998, ISSN: 0736-5748.

Abstract | Links:

Etongué-Mayer P, Faure R, Bouchard JP, Puymirat J

Characterization of a 54-kilodalton human protein kinase recognized by an antiserum raised against the myotonin kinase.

Journal Article

Muscle Nerve, 21 (1), pp. 8-17, 1998, ISSN: 0148-639X.

Abstract | Links:

Deschênes I, Chahine M, Tremblay J, Paulin D, Puymirat J

Increase in the proliferative capacity of human myoblasts by using the T antigen under the vimentin promoter control.

Journal Article

Muscle Nerve, 20 (4), pp. 437-45, 1997, ISSN: 0148-639X.

Abstract | Links:

Trépanier G, Furling D, Puymirat J, Mirault ME

Immunocytochemical localization of seleno-glutathione peroxidase in the adult mouse brain.

Journal Article

Neuroscience, 75 (1), pp. 231-43, 1996, ISSN: 0306-4522.

Abstract | Links:

Guérette B, Roy R, Tremblay M, Asselin I, Kinoshita I, Puymirat J, Tremblay JP

Increased granzyme B mRNA after alloincompatible myoblast transplantation.

Journal Article

Transplantation, 60 (9), pp. 1011-6, 1995, ISSN: 0041-1337.

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70 entries « 7 of 7 »
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Active projects

  • Centre de recherche du CHU de Québec - Université Laval, Subvention, Centre hospitalier universitaire de Québec - Université Laval, Centres de recherche affiliés, from 2017-01-01 to 2099-12-31
  • Centre de recherche en organogenèse expérimentale, Subvention, Institutionnel - BDR, BDR - Centres de recherche reconnus, from 2011-05-01 to 2020-09-22
  • Centre thématique de recherche en neurosciences, Subvention, Institutionnel - BDR, BDR - Centres de recherche reconnus, from 1999-06-01 to 2023-05-01
  • Optimizing nickase-induced contraction of CTG repeats in vivo, Subvention, Myotonic Dystrophy Foundation, from 2019-02-15 to 2021-02-28
  • Phase I/II clinical trial of myoblast transplantation to Duchenne Muscular Dystrophy patients., Subvention, Instituts de recherche en santé du Canada, Subvention de fonctionnement, from 2013-10-01 to 2022-03-31
  • Roles of exercise-induced gene, SPARC, against sarcopenia: Link between extracellular matrix and mitochondria., Subvention, Instituts de recherche en santé du Canada, Subvention de fonctionnement, from 2014-04-01 to 2021-03-31

Recently finished projects

  • Consortium Franco-Québécois. Base de données Steinert, Subvention, Association française contre les myopathies, from 2016-06-22 to 2020-03-31
  • Human iPSC-derived cerebral organoids as a brain model of congenital myotonic dystrophy type 1, Subvention, Association française contre les myopathies, from 2018-04-01 to 2020-03-31
  • iDM-scope Registre, Subvention, Association française contre les myopathies, from 2018-09-06 to 2020-03-31
  • Réseau de médecine génétique appliquée: Epidémiologie génétique (axe 5), Subvention, Fonds de recherche du Québec - Santé, Réseaux thématiques de recherche, from 2000-07-01 to 2019-06-30
Data provided by the Université Laval research projects registery