We are supported by a Scientific Advisory Board (SAB), composed of an international group of neuroscientists and neurologists with particular expertise in Spinal Muscular Atrophy research. The SAB advises us on research grant applications and clinical trials initiatives which aim to:
increase our understanding of the mechanisms of spinal muscular atrophy, in particular, understanding the SMN complex as it relates to the natural history of the disease,
increase our understanding of the natural history of SMA,
develop potential new therapies,
address bottlenecks which impair rapid transition from Basic Research to the Clinics (e.g.: Outcome measures, biomarkers, administration route of potential therapeutics)”
SMA Europe SAB & scientific administrators
Position & affiliation: Chair and full professor at the Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University of Cologne, Germany Specialist areas: Human Genetics/Neurobiology/Skeletal Disorders SMA research/ clinical interest: Neurobiology of SMA/Protective SMA Modifiers /Disease gene identification of neuromuscular diseases/ Development of therapies for SMA/Pathophysiology of osteoporosis caused by PLS3 Educational background: Dipl.-Biology: University of Bukarest, PhD & Habilitation at the Institute of Human Genetics Bonn,University of Bonn Website:https://humangenetik.uk-koeln.de/en
MD, PhD (vice-Chair)
Professor Servais graduated from Louvain Medical School (Belgium) in 1999. He obtained a PhD in Neuroscience in 2005 from the Free University of Brussels (ULB), Belgium. He became a Child Neurologist in 2006 at the Free University of Brussels (ULB) then a Resident in child neurology in the Robert Debré Hospital in Paris, until 2008 when he was appointed as a Child Neurologist at the Institut de Myologie in November 2008. Laurent is now Professor of Paediatric Neuromuscular Diseases at the University of Oxford and Invited Professor of Child Neurology at the University of Liège in Belgium.
Position & affiliations: Head, Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, and Contract Professor in Paediatrics at the School of Medicine, University of Genova, Italy Specialist areas: Motor neuron disease/Muscular dystrophies/Congenital myopathies/Metabolic myopathies SMA research/clinical interest: Natural history/Bone mass analysis/Bioenergetics Educational background: School of Medicine and Residency in Paediatrics at the University of Genova, Italy; PhD in Developmental Neurology at the University of Siena, Italy; Postdoctoral training at Columbia University, New York, USA Link to personal/ institutional webpage: https://www.gaslini.org/reparti/centro-miologia-traslazionale-e-sperimentale/
Dr. Stefania Corti is a neurologist in Milan, Italy. She is an Associate Professor of Neurology and PI of Neural Stem Cell Lab at the University of Milan. She is the co-supervisor of the motor neuron out-patient service and member of neuromuscular team at the IRCCS Foundation Ca’ Granda University of Milan. Corti’s main research interests are stem cell/molecular therapies for the treatment of motor neurons diseases, in particular, Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy with respiratory distress type I (SMARD1), and Amyotrophic Lateral Sclerosis (ALS).
After Board Certification in Neurology, she obtained a PhD in Molecular Medicine at the University of Milan. Since 2004, up to now, she has worked first as research collaborator, then as Assistant Professor and from 2015 as Associate Professor at the University of Milan. In 2014 she obtained the habilitation as Associate Professor and as Full Professor of Neurology. She is a member of the Board of the PhD School of Molecular Medicine and of the Dino Ferrari Center Scientific Committee. The scientific results of Dr. Corti, basic and clinical research have been published in high citation rating peer reviewed journals (>130 articles).
Paediatric Neurologist and Director of the
Center for Experimental Neurotherapeutics at St. Jude Children’s Research Hospital in Memphis, Tennessee, USA
Professor Gillingwater is Professor of Neuroanatomy at the University of Edinburgh and Editor-in-Chief of the Journal of Anatomy and Academic Editor of PLoS One. He also teaches gross human anatomy and neuronanatomy to medical students and MSc students.
Position & affiliation: Senior Researcher, SMA Center of Expertise, UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, The Netherlands Specialist areas: Molecular biology and molecular genetics of motor neuron diseases SMA research/ clinical interest: : Molecular mechanisms of SMA / Genetic variation and SMN protein expression / Biomarkers for SMA Educational background: BSc Biomedical Sciences, MSc Neuroscience and Cognition, PhD Biomedical Sciences all at Utrecht University Personal/ institution website:http://www.smaonderzoek.nl/
Dr. Martinat obtained her PhD in 2001 at the Pasteur Institute in the laboratory of Michel Brahic on the cellular mechanisms involved in the persistence of Theiler’s virus within the central nervous system. For her post-doctoral formation, she joined in 2001 the laboratory of Pr. A. Abeliovich at Columbia University to evaluate the potential offered by mouse and human pluripotent stem cells to explore the mechanisms involved in Parkinson Disease. They identified two transcription factors that play a key role in the specification of dopamine neurons and present consequently a therapeutic potential for this neurodegenerative disease. For her return to France in 2005, she naturally decided to join the first institute in France, I-STEM, created by Marc Peschanki, dedicated to the use of human pluripotent stem cells to study and treat monogenic diseases. After two years dedicated to the use of human embryonic stem cells to model neuromuscular diseases, she was appointed by INSERM as a permanent researcher and obtained from the Genopole an ATIGE program to further develop her research in I-STEM. Research projects developed by her group mainly focus on the use of human pluripotent stem cells for pathological modeling of neuromuscular diseases and consequently the development of adapted drug screenings. In particular, her group recently demonstrated that human embryonic stem cells carrying the causal mutation for Myotonic Dystrophy type 1 (DM1) can be used to identify new pathological mechanisms, and discover new therapeutic strategies. In parallel to DM1, they recently developed a new protocol to efficiently and rapidly convert human pluripotent stem cells into synchronous populations of spinal motoneurons and use this development to expend our research on other neuromuscular diseases characterised by the specific death of motoneurons. In 2005, she also took the head of INSERM/UEVE UMR 861 in I-STEM.
Position & affiliation: Group Leader, Carl-Ludwig Institute for Physiology, Leipzig University, Germany Specialist areas: Motor neuron diseases/ motor circuits in health and disease SMA research/ clinical interest: Dysfunction and death of SMA sensory-motor circuits/ cerebellar pathology in SMA Educational background: Dipl.-Biology and PhD: University of Wuerzburg, Germany; Postdoctoral training: Columbia University, USA Website:https://physiologie.medizin.uni-leipzig.de/mobile.php?en,id141
Professor Ulrika Kreicbergs holds a professorship in palliative care for children and youth at Ersta Sköndal University College and is also associated to the Karolinska Institutet in Stockholm, Sweden.
Her research on families affected by cancer has been acknowledged worldwide. She received the prestigious Schweisguth Prize – SIOP, the International Society of Paediatric Oncology in 2004. Dr Kreicbergs did her postdoc at Dana Farber Cancer Institute and Boston Children’s Hospital in Boston, US. Dr Kreicbergs has continued her research on the child and family in palliative care. Her work is focused on factors in the health care that can be modified or avoided to reduce suffering and thereby enhance quality of life for the child and their families.
The SAB is supported by 2 scientific administrators, who jointly manage the Call for Research Proposals as well as other scientific initiatives:
Alexandre Méjat, AFM, France – PhD in molecular and cellular biology by training, Alexandre has been working on neuromuscular junction defects and Emery Dreifuss muscular dystrophy in France and USA. He led a research group in Lyon for 8 years before becoming Scientific International Affairs manager for AFM Telethon.
Vanessa Christie-Brown – SMA Europe Coordinator – Vanessa read Experimental Psychology and later Immunology at University. She worked as a research scientist in the field of immunology, initially at The Royal Postgraduate Medical School (Hammersmith Hospital) and later at Imperial College. Vanessa then worked for The SMA Trust in the UK for 7 years as Research Coordinator and became SMA Europe Coordinator in May 2014.