The organiser
Laurent Servais
Laurent Servais, MD, PhD is professor of paediatrics neuromuscular diseases at the University of Oxford and invited Professor at the University of Liege, Belgium. He graduated from the University of Louvain (Medicine) and Brussels (Paediatrics), and trained as a child neurologist in Robert Debré Hospital (Paris) and as a myologist in the Institute of Myology, in La Pitié Salpétrière (Paris). His main research interests cover innovative outcome measures and clinical trials design and newborn screening. He has been involved as PI in several clinical trials in spinal muscular atrophy, X-Myotubular Myopathy and Duchenne Muscular Dystrophy, and in leading the pioneering newborn screening program for spinal muscular atrophy newborn screening in Belgium.
The speakers
Danilo Tiziano
Danilo Tiziano is associate professor of medical genetics at Catholic University of Sacred Heart in Roma, Dr. Tiziano has been involved in research and diagnosis of SMA for over 25 years, in collaboration with Prof. Christina Brahe and then as Laboratory responsible. Dr. Tiziano has collaborated with Prof. Judith Melki to the development of a mouse model of SMA and has been involved in the identification of the first treatments for SMA. From 2019 to 2021 Dr. Tiziano has been responsible of the pilot NBS project for SMA in two Italian Regions and is now responsible for genetic confirmation of SMA patients identified in Lazio and Tuscany.
Liesbeth de Waele
Liesbeth De Waele is a child neurologist with certification in rehabilitation medicine working as Deputy Head of Clinics in the Department of Paediatric Neurology in the University Hospitals Leuven in Belgium. She has an academic position at the University of Leuven (KU Leuven) as Assistant Professor at the Faculty of Medicine, Department of Development and Regeneration.
Prof. De Waele is Head of the Neuromuscular Reference Center (NMRC) for children at UZ Leuven. Since more than 10 years she is involved in the clinical care for patients with neuromuscular disorders, and she participated as PI and Sub-I in multiple international clinical trials (natural history and therapy development) in Spinal Muscular Atrophy (SMA), Duchenne muscular dystrophy (DMD) and Limb Girdle Muscular Dystrophy (LGMD).
Her main research interests include translational research in neuromuscular disorders, neurocognition and behavioral aspects and brain imaging in DMD, evaluation of novel therapies for neuromuscular disorders, and registries in neuromuscular disorders.
Prof. De Waele is trained in Medicine at the KU Leuven and obtained a PhD degree in the field of gene therapy for bleeding disorders. She completed her training in paediatrics and child neurology at the University Hospitals Leuven, with a clinical and research fellowship at the University of Newcastle upon Tyne (UK), focusing on neuromuscular disorders.
Tamara Dangouloff
Tamara Dangouloff has a PhD in health economics on the Medico-economic analysis of newborn screening for SMA under the supervision of Laurent Servais and Michael Hiligsmann. She has been involved in several projects in the field of SMA including an ENMC on NBS of SMA, the evolution of NBS of SMA in the world, systematic review of economic evaluations and cost studies, the assessment of patients' costs and quality of life, the cost-effectiveness analysis of newborn screening for SMA in Belgium and she is project manager of the NBS program for genetic disease in Belgium : Baby Detect.
Renske Wadman
Renske Wadman is a neurologist and pediatric and adult neuromuscular specialist at the University Medical Center (UMC) and Spieren voor Spieren Kindercentrum in Utrecht in the Netherlands. Her neuromuscular training included a 6- months fellowship at the Dubowitz Neuromuscular Centre at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK. This fellowship was supported by a personal grant from the Prinses Beatrix Spierfonds.
Her previous research focused on the natural history in infants to adults with SMA creating valuable reference data for current SMN-modulating treatments, and is now focussing on finding diagnostic and prognostic biomarkers for disease severity and treatment effects. In 2023 she received a VENI grant (funding awarded to promising young scientists) from the Dutch Organization for Scientific Research Organization (NWO) for her research to investigate biomarkers to evaluate and predict disease severity and treatment efficacy in babies diagnosed with SMA though newborn screening.
Renske Wadman is one of the two Utrecht representatives for the European Reference Network for Neuromuscular Diseases (EURO-NMD) and a member of the Dutch Scientific Research Committee for Newborn screening.
Pr Michaël Hiligsmann
Mickaël Hiligsmann is Associate Professor in Health Economics and Health Technology Assessment (HTA) at the Department of Health Services Research, CAPHRI Care and Public Health Research Institute, Maastricht University (the Netherlands). His research expertise includes health technology assessment, economic evaluation, decision-analytic modelling, patients’ preferences and patient involvement in decision-making. He has been co-promotor of about 20 PhD students and is author of about 225 peer-reviewed articles. He has been involved in several projects in the field of Spinal Muscular Atrophy (SMA) including a systematic review of economic evaluations and cost studies, the assessment of patients’ costs and quality of life, the cost-effectiveness analysis of newborn screening for SMA in Belgium, and he is member of the steering committee of the newborn screening for SMA in Belgium.
Janbernd Kirschner
Professor Janbernd Kirschner is pediatric neurologist and Director of the Department of Pediatric Neurology at Bonn University Hospital. After studying medicine at the Universities of Bonn and Newcastle-upon-Tyne (UK), he completed his specialist training in paediatrics and adolescent medicine with a focus on neuropaediatrics at the University Hospital Freiburg. He performed a post-doc fellowship at the Children's Hospital of Philadelphia. His research focuses on neuromuscular diseases in childhood and adolescence and the exploration of innovative therapeutic approaches. Jan Kirschner is a board member of the European Reference Network for Neuromuscular Diseases (EURO-NMD) and head of the SMArtCARE network for the collection of real-world data in spinal muscular atrophy. Awards: Felix-Jerusalem Prize of the German Muscular Dystrophy Society and the Research Prize of the German Duchenne Foundation.
François Boemer
François BOEMER, PharmD, EuSpLM, PhD, heads of the newborn screening center and the biochemical genetics laboratory at the University Hospital of Liège, Belgium. He is assistant lecturer at the University of Liège. He authored more than 50 papers in international peer-reviewed journals. Dr BOEMER is recognized as European Specialist in Laboratory Medicine (EuSpLM), Laboratory Supervisor of Medical Genetics by the BeSHG and Clinical Laboratory Geneticist by the European Council of Medical Genetics. He is a founding member of Metabolics.be (Belgian Society for the Study of Inborn Errors of Metabolism), member of ISNS (International Society for Neonatal Screening) and of RBSLM (Royal Belgian Society of Laboratory Medicine). He has been leader in the development of innovative methods related to the screening of Sickle cell diseases. He has also been at the forefront of the implementation of a newborn screening program for Spinal Muscular Atrophy in Southern Belgium. For several years, he has also been actively involved in the development of sequencing approaches dedicated to neonatal screening.
Francesco Muntoni
Francesco Muntoni is a Professor of Paediatric Neurologist and the Director of the Dubowitz Neuromuscular Centre, at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK. In the Institute and hospital, he is Theme Lead in the Novel Therapies of the Biomedical Research Centre and between 2008 and 2017 led the Developmental Neuroscience Programme. Since 2008 he is the co-directed the MRC Centre for Neuromuscular Diseases at UCL.
Muntoni has an interest in pathogenesis, deep phenotyping, gene identification for rare neuromuscular conditions and translational research in DMD, SMA and congenital myopathies. He is involved in several natural history studies and clinical trials. His research funded by the Department of Health, MRC and the European commission lead to the development and early clinical trials of 2 morpholino antisense oligonucleotides, now approved by FDA, that induce partial correction of the processing defect of the DMD gene in boys with Duchenne muscular dystrophy. He is the UK chief investigator for clinical trials on DMD and SMA, including AAV trials.
Monika Gos
Monika Gos, PhD, Associate Professor at the Institute of Mother and Child, laboratory diagnostician, specialist in medical laboratory genetics, registered with the ErCLG.
Head of the Developmental Genetics Laboratory in the Department of Medical Genetics; since 2009, she has been involved in studies on the genetic background of spinal muscular atrophy, including the implementation of MLPA and Sanger sequencing for the analysis of the SMN1 gene. In cooperation with the Metabolic Diagnostics and Screening Department, she is involved in the neonatal screening programme for spinal muscular atrophy in the Polish population.
