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.


1401, 18 ième Rue
Québec, Québec,, Québec
Canada G1J 1Z4

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Wei C, Stock L, Valanejad L, Zalewski ZA, Karns R, Puymirat J, Nelson D, Witte D, Woodgett J, Timchenko NA, Timchenko L

Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1

Journal Article

FASEB J, 32 (4), 2018.

Abstract | Links:

Hogrel JY, Ollivier G, Ledoux I, Hebert LJ, Eymard B, Puymirat J, Bassez G

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1

Journal Article

Ann Clin Transl Neurol, 4 (12), 2017.

Abstract | Links:

Jauvin D, Chretien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, MacLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

Journal Article

Mol Ther Nucleic Acids, 7 , 2017.

Abstract | Links:

Arandel L, Polay Espinoza M, Matloka M, Bazinet A, De Dea Diniz D, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF, Furling D

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

Journal Article

Dis Model Mech, 10 (4), 2017.

Abstract | Links:

Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Journal Article

PLoS One, 11 (2), 2016.

Abstract | Links:

Bachasson D, Moraux A, Ollivier G, Decostre V, Ledoux I, Gidaro T, Servais L, Behin A, Stojkovic T, Hebert LJ, Puymirat J, Eymard B, Bassez G, Hogrel JY

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1

Journal Article

Neuromuscul Disord, 26 (7), 2016.

Abstract | Links:

Pratte A, Prevost C, Puymirat J, Mathieu J

Anticipation in myotonic dystrophy type 1 parents with small CTG expansions

Journal Article

Am J Med Genet A, 167A (4), 2015.

Abstract | Links:

Dogan C, Puymirat J, Bassez G

[DM-SCOPE, an intermediary appraisal report and benefits of databases in neuromuscular disorders]

Journal Article

Med Sci (Paris), 31 Spec No 3 , 2015.

| Links:

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmuller H

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Journal Article

Eur J Hum Genet, 23 (9), 2015.

Abstract | Links:

Bouchard JP, Cossette L, Bassez G, Puymirat J

Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases

Journal Article

J Neurol, 262 (2), 2015.

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78 entries « 3 of 8 »
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Active projects

  • Recherche clinique visant à identifier les facteurs prédicateurs de la réponse au traitement de la migraine par l'Aimovig , from 2020-04-30 to 2025-03-31

Recently finished projects

  • Human iPSC-derived neurons as a model of congenital myotonic dystrophy type 1, from 2021-05-01 to 2023-04-30
  • Phase I/II clinical trial of myoblast transplantation to Duchenne Muscular Dystrophy patients., from 2013-10-01 to 2022-03-31
Data provided by the Université Laval research projects registery