St. Jude Children's Research Hospital
Memphis, United States
Country
USA
Institution
National Institutes of Health / NINDS
Education summary
I graduated from Medical School at the University of Freiburg in Germany with a Doctorate of Medicine (Dr med). I then trained in paediatrics in Hamburg and Göttingen (where I was awarded the Habilitation in paediatrics), and in neurology/child neurology at Massachusetts General Hospital/Harvard Medical School in Boston. This was followed by postdoctoral research in the genetics of muscular dystrophies with Prof. Louis Kunkel (during which time I identified the beta-sarcoglycan gene) and neuromuscular speciality training both at Boston Children’s Hospital/Harvard Medical School.
Career summary
Starting in 2002 I was Co-Director of the Neuromuscular Programme (Richard Finkel, Director) and Director of the Paediatric Neurogenetics Clinic at Children's Hospital of Philadelphia/University of Pennsylvania School of Medicine, where I continue to be on faculty as Adjunct Full Professor of Neurology. In 2010 I joined the NIH/NINDS as a tenured Senior Investigator and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section (NNDCS) in the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke.
At the NIH my clinical and laboratory groups pursue clinical, genomic and translational work centered in particular around early onset neuromuscular disorders such as the congenital myopathies, congenital muscular dystrophies, and genetic myasthenic syndromes. The focus is on novel gene and variant discovery, the establishment of natural history and outcome measures, and on the development of molecular and gene directed treatment approaches to these conditions. In the clinic this has included the first-in-human intrathecal (for Giant Axonal Neuropathy) as well as intravenous AAV (for XLMTM) mediated gene transfer trials. In the lab we are actively developing AAV, ASO, siRNA, and CRISPR based treatment approaches for specific pathogenic variants and some of the new entities we have identified. A particular focus is on the exploration of platform based treatment approaches in order to make therapy development more cost-effective and attainable. Reaching beyond I have helped implement various initiatives to assess the risks and benefits of AAV mediated gene therapies in neuromuscular disorders, building on trust and data sharing to advance the field. As an important aspect of my work I has also been examining and helping to diagnose patients together with colleagues in many countries around the world.
I was a Pew Fellow in the Biomedical Sciences and received the 2010 Derek Denny-Brown Neurological Scholar Award as well as the 2023 Jacoby Award from the American Neurological Association. In 2022 I received the Legacy Award of the Muscular Dystrophy Association USA, in 2023 the International Duchenne-Erb Price of the German DGM, and the 2025 Honorary Award of the Gesellschaft für Neuropädiatrie (German speaking Society of Pediatric Neurology). I have been elected to the American Association of Physicians (AAP) and am Co-Editor-in-Chief of the Journal of Neuromuscular Diseases (JND).
What is the personal or professional achievement you’re most proud of?
It is the privilege of having being able to guide the training and professional formation of the next generation of neuromuscular physicians and scientists and seeing this supremely talented group of colleagues grow and succeed that I am most proud of. In the same vein I am equally grateful for the opportunities I have had to advance patient care and neuromuscular education around the world.
Why did you first join the WMS?
I joined the WMS in 1995 to join a community of colleagues and friends who are passionate about our field and our mission, and who are excited to share, collaborate, and learn together.
What is your goal in joining the Executive Board?
I have been active in the WMS for many years, including on previous Executive Boards and committees and on the Teaching Course Faculty. My goals for this term are:
- To continue to expand education and training in all aspects necessary for a modern/next generation neuromuscular physician and scientist to be equipped to advance patient care from the most fundamental clinical and diagnostic aspects to the latest in gene-directed therapies.
- To create more room and opportunity to represent the sciences of translation in our activities and congress: the science of understanding the biology of disease and the science of advancing treatments to the clinic.
- To increase active participation and opportunities for younger/early career members
- To explore deepening ties and collaborations with other professional organisations with complementary goals to find synergies and opportunities.
- To build upon our integration and partnership with the patient community.
- To continue to build interaction with industry in a constructive, respectful but independent manner with the sole goal of advancing meaningful therapies.
- To advocate for access to treatments around the world, including advocating for equipoise and fairness in different resource settings.
