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.
R-211, LOEX/ CMDGT
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Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A)Journal Article
Stem Cell Res, 71 , 2023.
Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell linesJournal Article
Stem Cell Res, 67 , 2023.
Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1Journal Article
Int J Mol Sci, 23 (21), 2022.
Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1Journal Article
Hum Gene Ther, 33 (15-16), 2022.
Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1Journal Article
J Neurol, 269 (7), 2022.
Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1Journal Article
Gene Ther, 29 (12), 2022.
Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophyJournal Article
Neurobiol Dis, 160 , 2021.
iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocitiesJournal Article
Sci Rep, 11 (1), 2021.
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 geneJournal Article
Stem Cell Res, 44 , 2020.
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trialJournal Article
PLoS One, 15 (4), 2020.
- 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