Meet the project partners!
PR CYNTHIA GAGNON
Cynthia Gagnon is a full professor and career award researcher at the Faculty of Medicine and Health Sciences at the Université de Sherbrooke in Québec, Canada. She has served as the Scientific Director of the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) since 2011. Based in the Saguenay–Lac-Saint-Jean region – known for its triple founder effect, which contributes to the prevalence of certain neuromuscular diseases – Professor Gagnon has established a long-standing research program.
Professor Gagnon is internationally recognized for her research, which aims to enhance patient care and accelerate clinical trial readiness for high-prevalence neuromuscular disorders. Her primary research focuses on describing the natural history of these diseases and identifying contributing factors. She works with individuals affected by oculopharyngeal muscular dystrophy, Charlevoix-Saguenay recessive spastic ataxia, and myotonic dystrophy type 1. She is a strong advocate for interdisciplinary research that integrates the active participation of patient partners.
Photo credit : Université de Sherbrooke
CAPUCINE
TROLLET
Capucine TROLLET is Director of research at Inserm and leads a team together with Vincent Mouly within the Center of Research in Myology (CRM), a mixed research unit (UMRS974 – INSERM & Sorbonne University) created in 2014 on the site of La Pitié- Salpétrière Hospital in Paris. Chemist by training, she has a strong expertise in gene and cell therapy approaches.
She studies muscle regeneration, ageing and diseases, and has been working since 15 years on Oculopharyngeal muscular dystrophy (OPMD). The work of the team led to the identification of pathomechanisms of OPMD (splicing defects (NAR 2016), mitochondrial abnormalities (Plos Genet 2015), ER-stress (Hum Mol Genet 2019)) and the development of gene- and cell-based therapy strategies (Mol Ther Nuc Acids 2021; Hum Gene Ther 2020; Nat Com 2017). The team also has a strong expertise in human cellular models (they initiated an immortalization facility; FASEB J 2021), human muscle fibrosis (J Cachexia Sarcopenia and muscle 2022) and xenotransplantation (Plos One 2019).
Since 2018, she is elected board member of the Société Française de Thérapie Cellulaire et Génique and the Société Française de Myologie.
Photo credit : Jean-Yves Séguy
DR HANNS
LOCHMÜLLER
Hanns is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute. He also holds appointments as Professor of Neurology in the University of Ottawa Faculty of Medicine and the Department of Medicine, Division of Neurology at The Ottawa Hospital. He is affiliated with the University of Ottawa Brain and Mind Research Institute and Department of Cellular and Molecular Medicine and with the Ottawa Centre for Neuromuscular Disease.
Hanns trained as a neurologist in Munich, Germany and in Montreal, Canada. From 2007 to 2017, he held the chair of experimental myology at the Institute of Genetic Medicine at Newcastle University in the UK. He continues to hold a scientific appointment at the Department of Neuropediatrics and Muscle Disorders of the Medical Center – University of Freiburg in Germany and as visiting scientist at the Centro Nacional de Análisis Genómico (CNAG), Barcelona in Spain.
DR ANITA
BURGUN
Anita Burgun is Professor of Medical Informatics at the University of Paris Cité and head of the Department of Medical Informatics at Necker Hospital, AP-HP. Dr Burgun is a member of the Executive Committee of Imagine Institute, and a senior fellow of PR[AI]RIE, the Paris Institute for Interdisciplinary Research and Education in AI, where she leads a research program on methods to support diagnosis in rare diseases. She is Associate Professor at Université de Sherbrooke where she holds a chair on Digital Health.
Dr. Burgun has been French representative at the International Medical Informatics Association (IMIA) since 2011 and was named at the International Academy of Health Sciences Informatics (IAHSI) in 2023. She is currently involved in three international research consortia developing AI for rare diseases and published more than 200 articles in peer-reviewed medical journals and about 50 in computer science. Dr. Burgun holds a Medical Doctor degree (MD) from the University of Rennes (France), and a PhD in medical informatics.
PR OLIVIER
LAMBERCY
Olivier Lambercy obtained the PhD degree from the National University of Singapore in 2009 and joined the Rehabilitation Engineering Laboratory at ETH Zurich the same year. Since 2023, he is Adjunct Professor in the Department of Health Sciences and Technology (D-HEST) and the co-director of the Rehabilitation Engineering Laboratory. His research focuses on the development and clinical application of novel technological solutions to improve upper limb assessment, therapy and assistance after neurological injuries.
He is a board member of the International Consortium for Rehabilitation Robotics, a member and principal investigator at the Singapore-ETH Center as part of the Future Health Technologies program, a Scientific Advisor to the ETH spin-off AUXIVO, and serves as Associate Editor for the Journal of Neuroengineering and Rehabilitation since 2017.
DR DANIEL NATERA
DE BENITO
Daniel is a pediatric neurologist and researcher specializing in neuromuscular diseases. Since 2017, he has been a part of the Neuromuscular Unit at the Hospital Sant Joan de Déu in Barcelona.
His professional journey has always intertwined clinical work with biomedical research. He is particularly fascinated by the molecular mechanisms underlying neuromuscular diseases. Currently, his research focuses on discovering new genes, conducting in-depth phenotypic characterization, employing omics techniques to better understand the pathophysiology of these diseases, and developing novel tools to more accurately assess motor function in affected individuals. He firmly believes that collaboration with patients, their families, and their associations is essential for advancing knowledge in this field.
He has authored over 60 articles in scientific journals. Additionally, he is actively engaged as a speaker in courses and workshops about neuromuscular diseases. His ORCID ID is 0000-0001-7764-2085.
PR SANTA
SLOKENBERGA
Santa Slokenberga, LL.D, is an associate professor in medical law and is a senior lecturer in administrative law. Her research, teaching and supervision interests focus on questions pertaining to the human genome and biobanking, technologies in health care, including the use of AI, privacy and personal data protection, and the quality of pediatric health care. She is an EAHL board member and a board member of the Nordic Permed Law association, and is engaged in health policy questions nationally and internationally. In her spare time, Santa finetunes the art of hiding veggies in her toddler’s dish.
PR HEIDI
HOWARD
Heidi Carmen Howard is associate professor at University College Cork (Ireland) working on the policy, ethical, legal, and social issues (PELSI) of new technologies, especially in biomedicine and data driven sciences.
Her research focuses on using trans-, multi- and interdisciplinary approaches with a large emphasis on empirical research to study the challenges and implications of novel technologies (e.g. gene editing, next generation sequencing, AI) and their responsible translation for end users and society. Projects include themes such as PELSI of data-driven life science; informed consent for genomics in the clinic and gene editing in research; stakeholder engagement approaches and meaning in debates on germ line gene editing in humans.
Dr. Howard has an H-index of 38; has co-authored over 90 articles in international peer-reviewed journals, including journals such as Science, Nature, and Nature Genetics. She is an active member of the Policy and Ethic Committee (PEC) of the European Society of Human Genetics and works with a for-profit AI lab on the evaluation of large language models.
