AFBS Scientific Advisory Board

Dr. Beggs, of Boston Children’s Hospital and Harvard University, focuses on gene discovery and improving methods for identification of pathogenic mutations, with return of these research results to patients in a clinical setting. Current research in the Beggs laboratory utilizes genomic approaches in human patients and animal models to understand the pathophysiology of rare genetic conditions, and to develop animal models for use in creating targeted therapies to treat these devastating childhood disorders.

Gina Ravenscroft leads the Rare Disease Genetics and Functional Genomics Group at the Harry Perkins Institute of Medical Research and is a Principal Research Fellow at the University of Western Australia. She has worked on the genetics of neuromuscular diseases and on exploring mechanisms of disease and therapies in Nemaline Myopathy for over 15 years and was recently made a Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia. She is a member of the Scientific Advisory Board of FSHD Global, a member of the Executive Board of the World Muscle Society (WMS) and Chair of the WMS Scientific Program Committee. In addition, A/Prof Ravenscroft is a member of the Australian NHMRC Women in Health Sciences committee and President of the National Association of Research Fellows. Ravenscroft is supported by a prestigious Australian NHMRC Investigator Grant and her research is also funded by the Australian Medical Research Future Fund (MRFF) and Hearts and Minds Investments (HM1).

Dr. Lindsay Alfano is an Assistant Professor in The Abigail Wexner Research Institute at Nationwide Children’s Hospital and the Department of Pediatrics at The Ohio State University. As a research scientist and physical therapist, her mission is to conduct translational research to advance the development of therapeutics for rare diseases. She leads natural history and clinical trial readiness studies in rare progressive disorders to enable data-driven clinical trial decision-making and to elevate the standard of clinical care for patients.

Dr. A. Reghan Foley is a Senior Research Physician within the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA. She received her M.D. from Georgetown University School of Medicine. Dr. Foley completed her pediatrics training at Miami Children’s Hospital and fellowship training in pediatric neurology, adult neurology and neuromuscular disorders at the Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania. Dr. Foley also completed a neuromuscular clinical research fellowship at the Dubowitz Neuromuscular Centre, UCL Institute of Child Health and the Great Ormond Street Hospital, London (UK) and an MD Research degree [MD(Res)] at the University College London.

At the National Institutes of Health, Dr. Foley sees genetically undiagnosed patients with congenital onset neuromuscular conditions and follows children with congenital myopathies and congenital muscular dystrophies via various natural history studies. Dr. Foley has served as an investigator for Phase 1 clinical trials in the COL6-related dystrophies, LAMA2-related dystrophies, MTM1-related myopathy, and giant axonal neuropathy. She has been involved in gene discovery efforts in congenital and childhood neuromuscular disorders, via the UK10K Consortium and via a collaboration with the Broad Institute’s Center for Mendelian Genomics. Dr. Foley has received a Fulbright Scholar Award for her research aimed at identifying and validating disease-specific biomarkers in patients with COL6-related dystrophies and LAMA2-related dystrophies. This award has enabled her to work at the University College Cork’s INFANT Centre and the Department of Anatomy and Neuroscience, Cork, Ireland.

Adrian’s son was diagnosed with Nemaline Myopathy after a series of biopsies and state of the art genetic testing done by Boston Childrens Hospital. Adrian is the Operations Director in Mexico for one of the largest sustainability consulting companies, Ramboll; is part of Executive Committee of Chapter Zero Mexico, the climate governance forum of the World Economic Forum; is an Advisory Board from Mexico´s most prestigious university, Monterrey Tec, in academic matters associated to sustainability; and is considered a leader of opinion in his field. He holds a Bachelor’s Degree in chemical engineering from Monterrey Tec, a Master of Science in environmental management from the Illinois Institute of Technology and a Master of Philosophy in environmental policy by Cambridge University. Adrian is author of 3 books, one a best seller in its category for environmental regulations.

Lucinda is currently a student at the University of North Carolina in Charlotte, pursuing a Master’s degree in Medical Anthropology. In June 2023, she began a remote internship with the Beggs Research Laboratory at Boston Children’s Hospital and Harvard Medical School where she participated in a project to create a health history update survey for follow-up with their congenital myopathy research participants. In 2023, she became a member of the World Muscle Society and attended the Congress that year where she engaged with leading muscle scientists from around the world. Over the last 10 years, she has participated in various volunteer and paid projects with non-profit organizations serving those in the congenital muscle disease community. As an adult with Nemaline Myopathy (NM), she is an advocate for NM patients and families. She has been an actively engaged member in the global NM community since 2013, frequently attending NM scientific and/or family conferences and social gatherings, and is co-Administrator of the international Facebook resource group Nemaline and Congenital Myopathy Community. Lucinda offers a valuable viewpoint as an individual who has firsthand experience with NM while also having professional training in health outcomes research. 

Dr. Ottenheijm holds a Masters of Science from VU University, Amsterdam, Netherlands, and a PhD from Radboud UMC, Nijmegen, Netherlands. He is currently an Associate Professor at University of Arizona, Tucson, USA and a Full Professor at Amsterdam UMC, Amsterdam, Netherlands. The unifying theme of Dr. Ottenheijm’s research concerns the regulatory and pathogenic role of myofilament proteins in muscle contraction, with special focus on proteins involved in congenital myopathy. Ottenheijm and colleagues use a dual approach to the problem. The first approach makes use of skeletal muscle biopsies of patients, from which they isolate individual myofbers to study their contractile function. The second one makes use of genetically engineered models that harbor patient variants to identify the pathomechanisms underlying myopathy and to test the efficay of therapeutic compounds. 

Wayne is CEO and co-founder of Estuary Biotherapeutics, an early-stage biotechnology startup. Wayne has additionally served as a business advisor to early-stage companies, including Sardona Therapeutics and Opus Genetics. Most recently, Wayne was at MyoKardia, where he joined in 2015 prior to MyoKardia’s IPO. At MyoKardia, Wayne held roles of increasing responsibility, culminating in his position as Head of Business Development and Corporate Strategy until Bristol Myers Squibb’s acquisition in 2020 of MyoKardia for $13.1 billion. In this role, he led licensing, partnering and M&A activities as well as the corporate strategy and competitive intelligence functions. Additionally, at various points during his time at MyoKardia, Wayne led and served as a key contributor to the portfolio strategy, investor relations, corporate communications, capital markets, and finance functions. Prior to MyoKardia, he held operating, investing, or finance roles at Silk Road Medical, American Infrastructure Funds, RBC Capital Markets, and Valero. Wayne is an active volunteer with the Foundation Fighting Blindness. Wayne holds an MBA from Harvard Business School and a B.S. with honors in chemical engineering from the University of California, Berkeley.

Nicol Voermans, MD, PhD, is a Professor of Neurology at Radboud University Medical Center in the Netherlands with a focus on neuromuscular disorders. One of her primary areas of research is congenital myopathy. She is particularly interested in genotype – phenotype coupling, disease course in adult life, optimal symptomatic treatment, clinical trials and clinical trial readiness, as well as natural history studies. Dr. Voermans’ ultimate aim is to reduce the disease burden of inherited myopathies, and in parallel, improve the quality of life of patients. As an experienced and ambitious clinical researcher, physician, and teacher, she is a great asset to the AFBS Scientific Advisory Board.