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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Bchetnia M, Martineau L, Racine V, Powell J, McCuaig C, Puymirat J, Laprise C

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene.

Journal Article

Stem Cell Res, 44 , pp. 101748, 2020, ISSN: 1873-5061.

Abstract | Links:

Kurkiewicz A, Cooper A, McIlwaine E, Cumming SA, Adam B, Krahe R, Puymirat J, Schoser B, Timchenko L, Ashizawa T, Thornton CA, Rogers S, McClure JD, Monckton DG

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.

Journal Article

PLoS ONE, 15 (4), pp. e0231000, 2020.

Abstract | Links:

Klein AF, Varela MA, Arandel L, Holland A, Naouar N, Arzumanov A, Seoane D, Revillod L, Bassez G, Ferry A, Jauvin D, Gourdon G, Puymirat J, Gait MJ, Furling D, Wood MJA

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice.

Journal Article

J Clin Invest, 129 (11), pp. 4739-4744, 2019, ISSN: 0021-9738.

Abstract | Links:

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Diaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmuller H

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Journal Article

Orphanet J Rare Dis, 14 (1), pp. 199, 2019.

Abstract | Links:

Poulin H, Martineau L, Racine V, Puymirat J, Chahine M

Differentiation of lymphoblastoid-derived iPSCs into functional cardiomyocytes, neurons and myoblasts.

Journal Article

Biochem Biophys Res Commun, 516 (1), pp. 222-228, 2019, ISSN: 0006-291X.

Abstract | Links:

De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S, Filnemus Myotonic Dystrophy Study Group, Hamroun D, Bassez G

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.

Journal Article

Orphanet J Rare Dis, 14 (1), pp. 122, 2019.

Abstract | Links:

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Journal Article

Neurol Clin Pract, 8 (6), pp. 507-520, 2018, ISSN: 2163-0402.

Abstract | Links:

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmuller H

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Journal Article

Orphanet J Rare Dis, 13 (1), pp. 155, 2018.

Abstract | Links:

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Journal Article

Nat Commun, 9 (1), pp. 2009, 2018, ISSN: 2041-1723.

Abstract | Links:

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), pp. 2073-2085, 2018, ISSN: 0892-6638.

Abstract | Links:

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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