University of Pennsylvania
Philadelphia, United States
Country
United States (and Canada)
Institution
University of Pennsylvania (Professor of Neurology and Genetics, Director of the Penn Neurogenetics Therapy Center)
Children's Hospital of Philadelphia (staff clinician, neuromuscular division)
Hospital for Sick Children (emeritus Professor, Department of Paediatrics; adjunct senior scientist)
Education summary
Yale University, BS, MS (1993)
University of Chicago, PhD (1998)
University of Chicago, MD (2001)
University of Chicago (pediatrics internship, 2002)
University of Pennsylvania/Children's Hospital of Philadelphia (child neurology residency, 2005)
University of Michigan (Neurogenetics and Neuromuscular Fellowship, 2006)
Career summary
I am a clinician-scientist focused on gene discovery and therapy development for childhood muscle diseases. I am currently a Professor of Genetics and Neurology at the University of Pennsylvania and Director of the Penn Neurogenetics Therapy Center. I am also a staff clinician at the Children's Hospital of Philadelphia. I continue to hold adjunct positions at the University of Toronto and the Hospital for Sick Children, where I was a staff clinician, senior scientist, and Mogford Campbell Family Chair of Paediatric Neuroscience for 12 years before assuming my new roles at the University of Pennsylvania.
My clinical expertise is in childhood and adult genetic neuromuscular disorders. My research is focused on congenital myopathies and spans pre-clinical, translational, and clinical arenas. My research programme has had sustained funding since its inception in 2009, and I have authored/co-authored more than 200 manuscripts. I have also been fortunate to receive several awards, including the WMS Young Myologist Award (2008) and the Muscular Dystrophy Canada Researcher of the Year (2022).
In addition to my research programme, I am proud to currently serve as a WMS Executive Board member. I have held additional leadership positions related to neuromuscular diseases, including serving as chair of the TREAT NMD Board of Trustees and chair of the Canadian Paediatric Neuromuscular Group, and I am additionally on the medical advisory committees of both MDA and Muscular Dystrophy Canada. Along with Jiri Vajsar and our amazing Local Organising Committee, I was co-organiser of WMS 2023 in Halifax, Canada.
What is the personal or professional achievement you’re most proud of?
I am most proud of the work my team has done related to X-linked myotubular myopathy, the condition that has been the focus of my research programme for more than 15 years. My lab has helped define critical aspects of the disease process, including the first discovery of T-tubule abnormalities. We have identified and translated therapies from the bench to the bedside. We have both led and participated in international natural history studies, and been key participants in XLMTM interventional trials. Most recently, we have a new focus on understanding non-muscle manifestations of XLMTM, with a particular emphasis on the relationship with AAV gene therapy.
Why did you first join the WMS?
I attended my first WMS Congress in 2006 in Bruges. I was blown away by the mix of clinical and translational work presented at the meeting, and more importantly, at the opportunity to meet and talk with leading clinicians and scientists in the field. I have been a member since, drawn to the great content at the meetings and the to the unparalleled opportunities to network and to learn.
What is your goal in joining the Executive Board?
My experience as a WMS member has been an amazing one. It has helped shape my career, improve and expand my research, provide life-long learning, and introduce me to some of my favourite people. My goal as a member of the executive board has been, and will continue to be, to work to see the WMS provide that experience for all of its members. In other words, my goal is to help WMS become the academic, intellectual, scientific, and clinical home for all myologists, regardless of background, field of training, geography, gender, and experience.
I also believe strongly in advancing care for patients with neuromuscular disorders, and I see the WMS as serving a pivotal role in this. As such, a second goal is to continue working to advance the educational, clinical care, and research missions of the society.
