Rare Disease: Spinal Muscular Atrophy

August 20, 2020

Rare Diseases: Spinal Muscular Atrophy

10:30am – 12:30pm EDT | 4:30pm – 6:30pm CET | August 20, 2020

August is the month each year when special efforts are made to raise awareness of patients suffering from Spinal Muscular Atrophy (SMA), a crippling, degenerative neuromuscular disease. In its most severe form, SMA is the leading genetic cause of infant death. WuXi AppTec welcomes the opportunity to contribute to SMA Awareness Month this year through our next webinar, “Progress in Halting Spinal Muscular Atrophy”, on Aug. 20, 2020.

This is the third webinar in WuXi AppTec’s “Collaborations That Transform” series on rare diseases, where we convene physicians, drug developers, patients, and advocates to critically examine the current state of therapies and the promise of the next generation of treatment approaches and modalities

We would like to thank BioCentury, Children’s Tumor Foundation, CLSA, Informa, New England Hemophilia Association and UK Bioindustry Association for their great support of the “Collaborations That Transform” webinar series. 


10:30 AM


Hui Cai, VP and Head of Content, WuXi AppTec, Program Chair

10:30 AM - 10:50 AM

Session I: Perspective on Global Development and Access to Medicines in Rare Diseases

A conversation with Paulo Fontoura, Global Head and SVP, Neuroscience and Rare Diseases Clinical Development, Roche; moderated by David Chang, CEO, WuXi Advanced Therapies, WuXi AppTec

10:50 AM - 11:35 AM

Session II: Patients at the Center

Kristin Schneeman, Director, FasterCures, a center of the Milken Institute
Mencía de Lemus, President of SMA Europe; President of FundAME, National SMA patient organisation, Spain
Laurent Servais, Professor of Paediatric Neuromuscular Diseases, Neuromuscular Reference Center Disease, Department of Paediatrics, Liège, Belgium; MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, UK
Moderated by Lauren Martz, Senior Editor, Head of Translation & Clinical Development, BioCentury

11:35 AM - 12:30 PM

Session III: Translating Fundamentals into Meaningful Therapeutics

Karen Chen, CEO, Spinal Muscular Atrophy Foundation
Stanley Crooke, Chairman of the Board and CEO, Ionis Pharmaceuticals; Founder, CEO and Chairman of the Board, n-Lorem Foundation
Thomas Crawford, Professor of Neurology and Pediatrics, Johns Hopkins Hospital, Johns Hopkins Children’s Center, Kennedy Krieger Institute
Oscar Henry Mayer, Professor of Clinical Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Division of Pulmonology, Children’s Hospital of Philadelphia
Moderated by Richard Soll, Head of WuXi AppTec’s Boston office; Senior Advisor of Strategic Initiatives

12:30 PM



Karen Chen

CEO, Spinal Muscular Atrophy Foundation

Karen Chen is the Chief Executive Officer of the Spinal Muscular Atrophy Foundation, responsible for overseeing the full range of scientific and drug discovery programs, as well as managing the operations activities. Dr. Chen is a senior research scientist and manager with over 30 years of experience, including 15 years in the pharmaceutical industry, planning, directing, and conducting preclinical research. She has managed departments and groups working on a variety of projects for the discovery and development of novel therapeutics for neurological disorders. Dr. Chen joined the SMA Foundation from Roche Palo Alto where she was Director of Neurosciences and Head of the Alzheimer’s Disease and Neurodegeneration Group. Prior to Roche she was Director of Pharmacology and Head of the In Vivo Neurodegeneration and Behavior Groups at Elan Pharmaceuticals working primarily on therapies for Alzheimer’s Disease and Parkinson’s Disease. Her post-doctoral training was obtained at Genentech investigating neurotrophic factors therapies for neurodegenerative conditions. Dr. Chen holds an A.B. from Harvard University, and obtained her Ph.D. in Neurosciences from the University of California, San Diego working with Dr. Fred (Rusty) Gage on the behavioral and morphological effects of fetal grafts and neurotrophin administration in models of age-related degeneration. She has over 50 scientific publications and several patents. Dr. Chen currently serves on the Board of Directors of the Bluefield Project and the N-Lorem Foundation, and is an advisor to several other non-profit organizations. Dr. Chen has served on the National Institute of Neurological Disorders and Stroke (NINDS) National Advisory Council. She also is the Chief Executive Officer and Cofounder of Imago Pharmaceuticals and on the Board of Directors of Nitrome Biosciences.

Thomas Crawford

Professor of Neurology and Pediatrics, Johns Hopkins Hospital, Johns Hopkins Children’s Center, Kennedy Krieger Institute

Dr. Tom Crawford has been a member of the Department of Neurology since 1987. He is co-director of the MDA clinic for Neuromuscular Disorders and Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins. His practice involves general child neurology with a principal interest in caring for children with neuromuscular, neuromotor, and ataxic disorders. Primary research interests involve the basic science and clinical characterization of two important neurologic disorders that affect children: Spinal Muscular Atrophy and Ataxia Telangiectasia. He is also actively involved in the Biology of neurofilaments by characterization of transgenic animal models. He is on the Medical and Scientific Advisory Boards of Families of Spinal Muscular Atrophy, and the Medical Advisory Committee for the Muscular Dystrophy Association. He is the Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins, which has evaluated almost half of the known patients with this disorder in the United States. Additional specific clinical interests include evaluation and treatment of children with brachial plexus palsies.
Dr. Crawford received his medical degree from the University of Southern California. He completed a pediatric internship and residency at the Pediatric Pavilion of the Los Angeles County / University of Southern California Medical Center, followed by a pediatric chief residency. He completed his training in Neurology with Special Qualification in Child Neurology at the Los Angeles Childrens Hospital. He then traveled east to the laboratory of Dr John Griffin at Johns Hopkins for a fellowship in Neuromuscular Disorders. Prior to medical training and Neurology residency, he majored in Psychology and Religion at Yale College.
Dr. Crawford has published extensively and presented nationally and internationally. He has an active role in teaching medical students and residents in neurology. In addition, Dr. Crawford has special interest and experience in EMG studies of children and adults.

Stanley Crooke

Chairman of the Board and CEO, Ionis Pharmaceuticals; Founder, CEO and Chairman of the Board, n-Lorem Foundation

Dr. Crooke is the founder and former chief executive officer of Ionis Pharmaceuticals. In 2020, Dr. Crooke assumed the executive chairman role at Ionis Pharmaceuticals, continuing to lead research into the molecular mechanisms of antisense oligonucleotides and lead n-Lorem, a charitable foundation he has founded to create and supply antisense oligonucleotide medicines for patients with ultra-rare diseases. During his tenure at Ionis, he has led the scientific development of a new platform for drug discovery, antisense technology and engineered the creation of one of the largest and more advanced development pipelines in the biotechnology industry. Early in Dr. Crooke’s career, he led the creation of the first broad anticancer program in the industry at Bristol-Myers, bringing numerous anticancer drugs to the market in the first five years of his career. He then assumed responsibility for worldwide R&D at SmithKline Beckman. Dr. Crooke has received a number of awards, most recently, the American Chemical Society’s E.B. Hershberg Award for Important Discoveries in Medicinally Active Substances, the Lifetime Achievement Award presented by the Oligonucleotide Therapeutics Society, the Scrip Lifetime Achievement Award and the 2019 Massry Prize. Dr. Crooke received his M.D. and Ph.D. degrees and house staff training at Baylor College of Medicine and has been an active scientist throughout his career. He has published more than 500 scientific publications, edited more than 20 books, has numerous patents, and led the development of more than 23 drugs that have been commercialized.

Paulo Fontoura

Global Head and SVP, Neuroscience and Rare Diseases Clinical Development, Roche

Paulo Fontoura is the Senior Vice President and Global Head of Neuroscience and Rare Diseases Clinical Development at Roche, in charge of late stage development programs. In this role, he manages one of the industry-leading pipelines in this area, including the development and launch of ocrelizumab (Ocrevus) in Relapsing and Primary Progressive Multiple Sclerosis, plus several projects in Alzheimer disease, Neuromyelitis Optica, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Huntington disease and Autism Spectrum Disorders.
He joined Roche in 2008 and became VP and Global Head of Neuroscience Translational Medicine in 2010, responsible for the early development of new medicines for neurological and psychiatric diseases, including Multiple Sclerosis, Alzheimer disease, schizophrenia, depression and autism. Later his group pioneered projects in genetically caused Rare Diseases such as fragile X syndrome, Down syndrome, Spinal Muscular Atrophy and Huntington disease. In 2015 he moved to his current position in late stage development.
Paulo received his MD and PhD in Neuroimmunology from the New University of Lisbon, and performed his neurology residency at the Egas Moniz Hospital in Lisbon. He did a postdoctoral fellowship at Stanford University where he made significant contributions to research on antigen-specific therapies such as DNA vaccines for Multiple Sclerosis and spinal cord injury. After graduating, he worked as a neurologist and Assistant Professor of Immunology at the New University of Lisbon, focusing on MS research, in collaboration with the Gulbenkian Foundation, was a Visiting Professor Neurology at Stanford University, and consulted with pharmaceutical and biotechnology companies. More recently, he was a Visiting Professor to the University of Basel and University of Aveiro.
Paulo is a Fulbright Fellow, and has received several awards throughout his career, including a European Charcot Foundation Young Investigator Award, Gulbenkian Investigator and Christopher Reeve Foundation Awards. Since being at Roche he has received the pRED STAR leadership award and the RMM Award of Excellence for his work on Autism.

Mencía de Lemus

President of SMA Europe; President of FundAME, National SMA patient organisation, Spain

Mencía de Lemus is President of the European SMA patient organisation, SMA Europe. Her background on International Relations and International Politics has provided her with the adequate experience to lead the effort to bring a united patient voice to the decision making environment related to the drug development process for SMA. She has been involved in patient organisations since the SMA diagnosis of her two children.
Mencía is convinced that building solid partnerships with all stakeholders that are participating on shaping a better future for people living with SMA is the best way to contribute to the ultimate goal of SMA Europe, which is to bring effective therapies to people living with SMA in a timely and sustainable way, and to ensure optimal care. For this reason, Mencía is leading the efforts to create and consolidate a succesful cooperation with researchers, HCPs, regulators, patient organisations across the globe, and pharmaceutical industry.

Oscar Henry Mayer

Professor of Clinical Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Division of Pulmonology, Children’s Hospital of Philadelphia

Dr. Oscar Henry Mayer is a Professor of Clinical Pediatrics at The Perelman School of Medicine at the University of Pennsylvania, and an Attending Pulmonologist within the Division of Pulmonology at the Children’s Hospital of Philadelphia (CHOP), where he is the medical director of the CHOP Pulmonary Function Testing (PFT) laboratory. For the last 17 years he has been the pulmonologist in the Neuromuscular Center and in the Center for Thoracic Insufficiency Syndrome since its inception 10 years ago and directs much of the outpatient and inpatient management of these patients. He has broad clinical interests including managing patients with chronic respiratory failure, the pulmonary manifestations of neuromuscular disease, and assessing and managing patients with complex chest wall and spine disease. He is on a number of national committees and study groups involved in pediatric pulmonary function testing, the assessment and management of children with complex thoracospinal disorders and neuromuscular disorders, on which he has lectured nationally and internationally and has published a variety of journal articles and book chapters.

Kristin Schneeman

Director, FasterCures, a center of the Milken Institute

Kristin Schneeman joined FasterCures in April 2005 as director of programs, with
primary responsibility for its innovation portfolio of projects and activities, focused on best practices in the funding and conduct of medical research and innovative collaborations among players in the research enterprise. Among other initiatives, she runs the TRAIN (The Research Acceleration and Innovation Network) program, which provides a platform for knowledge sharing and relationship building to support the growth of venture philanthropy in medical research.
Kristin brings to FasterCures more than 25 years’ experience in public policy, politics,
academia, and the media. Schneeman served for three years as a senior adviser and policy director to a gubernatorial candidate in Massachusetts, as a policy aide to a U.S. Congressman, and for four years as the front-line manager and chief-of-staff for a senior adviser to Vice President Al Gore. At Harvard University she directed research projects on future challenges facing governments, and on complex negotiations in business, politics, and international relations. Schneeman began her career as a producer of documentary films, for which she was the recipient of an Emmy Award in 1990.

Laurent Servais

Professor of Pediatric Neuromuscular Disease, MDUK Oxford Neuromuscular Centre; Head of Specialized Translational Research Oxford Neuromuscular Group: Invited Professor of Child Neurology, Liège University

Lauren Martz

Senior Editor, Head of Translation & Clinical Development, BioCentury

Lauren has written on emerging technologies and therapeutics since joining BioCentury in 2007. As Senior Editor, she guides BioCentury’s coverage of translation and clinical development and has written extensively on technologies including CRISPR, cell and gene therapies, the microbiome and gene control, as well as IP issues affecting the industry. Lauren holds a B.S.E. in Bioengineering from the University of Pennsylvania and an MBA from Temple University.

David Chang

CEO, WuXi Advanced Therapies, WuXi AppTec

Dr. David Chang has 30-year industrial experience, and is currently the CEO of Wuxi AppTec Advanced Therapies Business Unit located in Philadelphia, PA. Prior to current role, he was Corporate VP and Head of Cell Therapy Global Manufacturing, of Celgene Corporation; the Global Head of Engineering and Strategy at Roche based in Basel, Switzerland; the VP/Site Head of Roche Shanghai Technical Operations in China. Earlier in his career Dr. David Chang worked at Genentech as the Senior Director of Global Manufacturing Science and Technology, and as the Director of Process Development in its Oceanside, CA site. He was also formerly at Biogen Idec as Director of cell culture R&D, at BASF Bioresearch as a cell culture group leader, and at Schering-Plough Research Institute as a process development engineer.
Dr. David Chang obtained his Bachelor’s degree in Chemical Engineering from National Taiwan University in Taiwan, and the Master’s and PhD degrees in Biochemcial Engineering from MIT in Massachusetts, USA.

Richard Soll

Head of WuXi AppTec’s Boston office; Senior Advisor of Strategic Initiatives

Dr. Richard Soll is presently Senior Advisor, Strategic Initiatives for the Research Service Division at WuXi AppTec and Head of the WuXi office in Boston, Massachusetts. He has held various leadership roles at WuXi as Senior Vice President including head of the medicinal chemistry unit known as the International Discovery Service Unit, business development, and corporate alliances.
Dr. Soll’s contributions led to the discovery of the HCV NS5A inhibitor elbasvir (a component of Zepatier®) in the Merck-WuXi partnership, the JAK2 inhibitor fedratinib at TargeGen which formed the basis of the $7B partnership between Celgene and Impact Biomedicines, and more than 10 other clinical stage drugs throughout his career.
Dr. Soll is currently a board member at Simcha Therapeutics, an board observer at the Accelerator Life Science Parnters, and an advisory board member with the Blavatnik Center for Drug Discovery at Tel Aviv University, the Children’s Tumor Foundation, and the Pistoia Alliance.
Dr. Soll was CSO / VP of R&D at TargeGen and was VP of Chemistry at 3-Dimensional Pharmaceuticals. He started his career at Ayerst Research Labs and was trained as a synthetic chemist at Dartmouth and Harvard.

Hui Cai

VP and Head of Content Division, WuXi AppTec

Dr. Hui Cai joined WuXi AppTec in 2009 as Vice President of Business Development, and is currently Vice President and Head of Content Division.
Prior to WuXi, Dr. Cai spent 10 years at Johnson & Johnson Pharmaceutical Research and Development leading multiple drug discovery programs in the therapeutic areas of inflammation and autoimmune diseases. She is a co-author and co-inventor to over 50 scientific publications and issued or pending patents. Dr. Cai is a Councilor of the American Chemical Society (ACS), a member of BayHelix, and a member of the UCSD Alumni Board. In her past capacity, she served as a Commissioner at the City of San Diego Science and Technology Commission, Chair of SABPA, and President of SDCA. Dr. Cai received her BS and MS in Chemistry from Peking University, PhD from The Scripps Research Institute, and MBA from UCSD Rady School of Management as a DLA Piper – Athena Scholar.

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