Key Note Speaker: Dr. Jacques P. Tremblay
Presented by PTC Therapeutics and in partnership with Jesse’s Journey and La Force DMD, this unique educational event provides the opportunity for families and caregivers navigating the Duchenne journey, to come together with researchers, like Jacques P. Tremblay, clinicians, and industry professionals for a day of education and inspiration.
Our Key Note Speaker will be Dr. Jacques P. Tremblay
Dr. Jacques P. Tremblay received a Ph.D. in Neuroscience from the University of California at San Diego in 1974. Since that time, he has been at Laval University as a postdoctoral researcher, Professor and Director of the Department of Anatomy. He is currently a full Professor in the Department of Molecular Medicine. He has worked specifically on myoblast transplantation* as a treatment for Duchenne muscular dystrophy. He has conducted a Phase I clinical trial of that potential therapy and he is currently conducting with Dr. Craig Campbell a Phase I/II clinical trial of that therapeutic approach. For the last 3 years, he also worked on gene correction with the CRISPR/Cas9 technology* for Duchenne muscular dystrophy, Friedreich’s Ataxia and Familial Alzheimer’s disease. This new exciting technology permits to correct mutations responsible for many hereditary diseases.
Presentation
Dr. Tremblay will provide an overview of the basics of genes, messenger RNA and proteins and build a gradual understanding of how mutations in the dystrophin gene lead to Duchenne or Becker muscular dystrophy. He will then present the different therapeutic approaches currently investigated around the world: prednisone, deflazacort, myoblast transplantation, exon skipping, micro-dystrophin and correction of the dystrophin gene with the new CRISPR/Cas9 technology.
*Transplanting myoblasts
Consists of transplanting healthy muscle cells, called myoblasts, into forearm muscle in Duchenne patients and measuring muscle strength at 3 and six months posttransplantation. This trial is for patients aged 16 and over.
- Transplanting myoblasts with a normal dystrophin gene can result in healthy muscle cells — a way to treat this devastating disease and alleviate the suffering of patients and their families.
- Clinical Trials, Canadian Institutes of Health Research, Clinical trials simplified
- Transplantation of Myoblasts to Duchenne Muscular Dystrophy (DMD) Patients
*CRISPR / Cas9 technology
CRISPR/cas9 technology is a technology that was first identified in bacteria. Bacteria were using this to cut up the genome of the viruses that were infecting them. About five years ago, researchers noticed that this technology allows not only to cut up virus genes but that it can also cut genes in animals, plants and especially in humans.
- Genetic engineering offers real hope of advancement
- Correcting nonsense mutations with CRISPR / Cas9
- Interview with Jacques Tremblay > Watch the video
