Carsten Bonnemann, MD
Dr. Bonnemann received his MD from Freiburg University, Germany. He completed pediatric training and venia legendi (Habilitation) in Germany. Residency in pediatric neurology at MGH/Harvard was followed by postdoctoral work with Dr. Louis Kunkel at Children's Hospital Boston working on the molecular genetics of muscular dystrophy. In 2002 he joined the Children's Hospital of Philadelphia/University of Pennsylvania as Assistant Professor, Co-Director of the Neuromuscular Program, and Director of the Neurogenetics Clinic. He joined NINDS in 2010 as Senior Investigator and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section. Dr. Bonnemann was a Pew Fellow in the Biomedical Sciences. He received the 2009 Derek Denny Brown Neurological Scholar Award. Research in Dr. Bonnemann's laboratory revolves around molecular mechanisms underlying early onset muscle disease (congenital muscular dystrophies, congenital myopathies, and reducing body myopathy). The laboratory's goal is to identify the genetic and cellular mechanisms in these conditions in order to develop strategies for molecular-based treatments.
Anne M. Connolly, MD
Nationwide Children’s Hospital (USA)
Anne M. Connolly MD is chief of the Division of Neurology at Nationwide Children’s Hospital, professor of Pediatrics at The Ohio State University College of Medicine, and a member of the Center for Gene Therapy in the Abigail Wexner Research Institute. An internationally recognized expert in pediatric neuromuscular disease and neuroimmunology, Dr. Connolly’s early research examined the relationship between auto-antibodies and childhood neurological and neuromuscular disorders. She completed fellowship training in neuromuscular disorders and neuromuscular pathology and is board certified in Neurology with special qualification in pediatric neurology, electrodiagnostic medicine and neuromuscular pathology. As a neuromuscular physician, Dr. Connolly has mentored and trained more than 100 adult and child neuromuscular fellows over 30 years. She has also helped develop outcome measures for infants and boys and men with Duchenne muscular dystrophy (DMD), and has led or been a collaborator in numerous pivotal clinical trials in children with neuromuscular disorders. She has served as a national thought leader to improve outcomes in children with neuromuscular disorders. She is an American Academy of Neurology Fellow, and a member of the Child Neurology and World Muscle Societies.
Sweta Girgenrath, PhD
Entrada Therapeutics, Boston (USA)
Sweta has over 20 years of experience spanning academia and the pharmaceutical industry, working at the interface of the complex pathophysiology of rare and ultra-rare muscle/cardiac disease and therapy. During her academic career, Sweta was a Professor at Boston University (2007-2016), where she served as a faculty member in the Human Physiology department and established a Neuromuscular program and laboratory researching rare muscle degenerative diseases with a specific focus on Laminin-deficient muscular dystrophy. Sweta transitioned to the pharma sector in 2016 by joining the Rare Disease Unit at Pfizer Inc. as an associate research fellow in the neuromuscular therapeutic area. Presently Sweta is heading the Neuromuscular and Cardiac therapeutics department at Entrada Therapeutics (Boston, USA).
Andrea Klein, MD
Inselspital Bern (Switzerland)
Francesco Muntoni, MD
University College London (UK)
Francesco Muntoni is a Professor of Paediatric Neurologist, trained in Italy and working in UK since 1993. He is the Director of the Dubowitz Neuromuscular Centre, at the UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK. In the Institute he is Theme Lead in the Novel Therapies of the Biomedical Research Centre in the Great Ormond Street Hospital and between 2008 and 2017 led the Developmental Neuroscience Programme. Since 2008, in close collaboration with the team at the UCL Institute of Neurology, he has co-directed the MRC Centre for Neuromuscular Diseases at UCL.
Dr. Muntoni has an interest in pathogenesis, deep phenotyping, gene identification for rare neuromuscular conditions and translational research in DMD, SMA and congenital myopathies. He is involved in several natural history studies and clinical trials. His research funded by the Department of Health, MRC and the European commission lead to the development and early clinical trials of 2 morpholino antisense oligonucleotides, now approved by FDA, that induce partial correction of the processing defect of the DMD gene in boys with Duchenne muscular dystrophy. He is the UK chief investigator for clinical trials on DMD and SMA, including AAV trials.
Peter D. Yurchenco, MD, PhD
Rutgers University (USA)
Peter D. Yurchenco received his Ph.D. and M.D. from the Albert Einstein College of Medicine (New York City) in 1975 and 1976 and is currently a tenured Professor at the Robert Wood Johnson Medical School of Rutgers University (Piscataway, NJ, USA). His laboratory has been studying the assembly, structure and functions of basement membranes (BMs) since 1984 in projects supported by N.I.H. funding. Discoveries of his lab, integrating with findings of colleagues, has led to a general model of BM assembly and structure. The model, for example, explains how laminins bind to cell surface receptors, polymerize and bind to BM nidogens, proteoglycans and collagen to form a functional matrix. Of note, the assembly model has created testable hypotheses allowing development of potential treatments for LAMA2-related dystrophies using in vitro and mouse models. Recently the Yurchenco laboratory developed laminin-binding linker proteins that enable polymerization in defective laminins. A collaboration with Prof. Rüegg, utilizing his discovery of miniagrin, led to a dual laminin-binding linker protein strategy for treatment of the dystrophy.