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Zoom link => https://us02web.zoom.us/j/89828059580
Using genomics to advance the field of Maladie de Charcot
Bryan Traynor
Chief, Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National
Institute on Aging (NIA), National Institutes of Health (NIH), Bethesda, MD, USA
Bryan J. Traynor is a neurologist and Senior Investigator at the National Institute on Aging, and adjunct faculty at Johns Hopkins University and Queen Square Institute of Neurology, UCL. He is best known for his work to understand the genetic etiology of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). He led the international consortium that identified pathogenic repeat expansions in C9orf72 as a common cause of ALS and FTD. Other genes discovered by his laboratory as causes of ALS and FTD include VCP, MATR3, KIF5A and HTT. His principal interests are in ALS, FTD, myasthenia gravis, and genomics.
Summary: I will discuss how genomics has advanced our understanding of amyotrophic lateral sclerosis (ALS) by finding new genes and providing us with the tools to unlock the mysteries of this disease first described Charcot all those years ago.
Zoom link => https://us02web.zoom.us/j/88305924930
New insights in DMD pathophysiology and CRISPR therapy
Dongsheng Duan
Margaret Proctor Mulligan Professor in Medical Research, School of Medicine, University of Missouri
Zoom link => https://us02web.zoom.us/j/89588355585
Adeno-associated virus vector-based in vivo gene therapy
– State of the art, challenges and strategies for mitigation
Guangping Gao
Director, Horae Gene Therapy Center
Co-Director, Weibo Li Institute for Rare Diseases Research, University of Massachusetts Medical School
Adeno-associated virus vector-based in vivo gene therapy – State of the art, challenges and strategies for mitigation
Guangping Gao, PhD, Horae Gene Therapy Center & Weibo Li Institute for Rare Diseases Research, University of Massachusetts Medical School.
This presentation will provide an overview on the key principles, state of the art, challenges, and potential strategies to mitigate in AAV in vivo gene therapy. The presentation will also showcase AAV capsid discovery and engineering to modulate target tissue tropism, therapeutic gene expression cassette design and optimization to enhance transduction efficiency, tissue/cell type specify and reduce immunogenicity, and examples of AAV gene therapy development: from proof-of-concept preclinical studies to first-in-human clinical evaluation.
Speaker Short Bio
Guangping Gao, PhD is the Director, Horae Gene Therapy Center and Viral Vector Core, Co-Director, Li Weibo Institute for Rare Diseases Research, Professor of Microbiology and Physiological Systems, Penelope Booth Rockwell Professor in Biomedical Research, University of Massachusetts Medical School; Elected fellows, both the US National Academy of Inventors (NAI) and American Academy of Microbiology; Past president, American Society of Gene and Cell Therapy.
Dr. Gao is an internationally well recognized gene therapy researcher, instrumental in the discovery and characterization of a new family of adeno-associated virus (AAV) serotypes, which revitalized the field of gene therapy. Dr. Gao’s research primarily focuses on gene therapy platform technologies and product development.
Dr. Gao has published more 310+ research papers, 6 book chapters, and 5 edited books. Dr. Gao holds 191 patents with 401 more patent applications pending. He serves as Executive Editor-In-Chief of Human Gene Therapy, Senior Editor of the Gene and Cell Therapy book series, Associate Editor of Signal Transduction and Targeted Therapy, and on Editorial Boards of several other gene therapy and virology journals. Dr. Gao was ranked as the World Top 20 Translational Researchers by Nature Biotechnology.
Novel roles for satellite cells in muscle adaptation and aging
Charlotte A. Peterson
Joseph Hamburg Endowed Professor
Director of the Center for Muscle Biology, UK College of Health Science.
More information on Charlotte A. Peterson and on her laboratory
More information on Charlotte A. Peterson and on her laboratory
Register by email.
Age-dependent Cardiac Dysfunction as a Mechanical Disease
Adam J. Engler
Professor and Vice-Chair of Bioengineering at UC San Diego
Resident scientist at the Sanford Consortium for Regenerative Medicine
Associate Director of the Medical-Scientist Training Program (MSTP)
Adam J. Engler is a Professor and Vice-Chair of Bioengineering at UC San Diego, where he has been on the faculty since 2008. He also is a resident scientist at the Sanford Consortium for Regenerative Medicine and Associate Director of the Medical-Scientist Training Program (MSTP).
Dr. Engler previously trained with Dr. Dennis Discher at the University of Pennsylvania, where he earned his PhD studying how ECM stiffness regulated stem cell fate. He also trained as a postdoc with Dr. Jean Schwarzbauer at Princeton University’s Department of Molecular Biology where he studied the mechanics of extracellular matrix assembly.
Dr. Engler’s current research focuses on how physical and chemical properties of the niche influence or misregulate cell function and modify genetic mechanisms of disease. In particular, his lab studies this phenomenon in the context of cardiovascular diseases and cancer. To accomplish this, his lab makes natural and synthetic matrices with unique spatiotemporal properties to mimic niche conditions, improve stem cell behavior and commitment in vitro, or direct them for therapeutic use in vivo. He currently has published over 100 manuscripts with an H-index of 52, holds 3 patents, and has a start-up company focused on stem cell research products.
Dr. Engler has received numerous awards in recognition of this research, including young investigator or mid-career awards from International Society for Matrix Biology (2008), Biomedical Engineering Society (2008), American Society of Matrix Biology (2014), American Society of Mechanical Engineering (2015), and American Society for Engineering Education (2018). Dr. Engler is a 2018 fellow of the American Institute for Biomedical Engineering and recipient of an NIH New Innovator Award grant (2009).
More information on Adam J. Engler’CV.
Register by email.
Facioscapulohumeral muscular dystrophy: a monogenic disease with marked clinical, genetic and nuclear heterogeneity
Silvère M van der Maarel, PHD
Professor of Medical Epigenetics
Chair Department of Human Genetics
Board Member Division 4
Leiden University Medical Center
Read more about the Silvère M van der Maarel
Exercise-induced myokines against muscle wasting during cancer
Rosanna Piccirillo
Head of the “Neuromuscular Dysfunctions Unit” at Mario Negri Institute for Pharmacological Research IRCCS in Milan (IRFMN), Department of Neurosciences
Read more information on Rosanna Piccirillo’s CV.
The dynamic roles of regulatory T cells in murine skeletal muscle regeneration
Diane Mathis
Professor of Immunobiology at Harvard Medical School and holder of the Morton Grove-Rasmussen chair of Immunohematology.
American National Academy of Sciences
German National Academy of Sciences
American Academy of Arts and Sciences
More information on Diane Mathis’CV.
Muscle stem cells and regenerative medicine
Shin’ichi Takeda
Director General Emeritus of Department Molecular Therapy, National Institute of Neuroscience.
National Centre of Neurology and Psychiatry.
Guest Professor in Tokushima University.
More information on Shin’Ichi Takeda’s biosktech.
Mechanistic insights from modeling cardiac features of Myotonic Dystrophy, Type 1 in mice
Tom Cooper
Professor, Baylor College of Medicine, Houston, Texas, USA, Pathology and Immunology – Molecular and Cellular Biology – Molecular Physiology and Biophysics
R. Clarence and Irene H. Fulbright Chair in Pathology
S. Donald Greenberg Chair in Pathology
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease caused by a CTG microsatellite repeat expansion in the DMPK gene, leading to the expression of pathogenic expanded CUG-repeat (CUGexp) containing RNA. The toxic CUGexp RNA causes disease by disrupting the activities of RNA binding proteins that regulate postnatal RNA processing ultimately resulting in expression of fetal protein isoforms of a subset of genes in adult tissues. Cardiac involvement affects 50% of individuals with DM1 primarily due to conduction abnormalities and arrhythmias causing 25% of disease-related deaths. We developed a transgenic mouse model for tetracycline-inducible and heart-specific expression of human DMPK mRNA containing 960 CUG repeats. CUGexp RNA is expressed in atria and ventricles and induced mice exhibit electrophysiological and molecular features of DM1 disease including cardiac conduction delays, spontaneous and inducible supraventricular arrhythmias, nuclear RNA foci with colocalization of the muscleblind RNA binding protein and alternative splicing defects. Importantly, both electrophysiological and molecular features were reversible upon loss of CUGexp RNA expression. The results identify potential mechanisms contributing to cardiac pathogenesis and demonstrate the utility of a reversible cardiac DM1 mouse model to facilitate development of targeted therapeutic approaches.
More information on Tom Cooper Lab’s webpage