The Medical and Scientific Advisors are distinguished experts from around the world and work closely with the Foundation to help us meet our mission and goals.
The Scientific Advisory Board oversees the organization’s research activities. These experts guarantee the scientific excellence of the projects which the Foundation finances and develop research projects which might benefit those living with NALCN-associated diseases.
They review and approve all research grant applications and meet annually with other interested researchers and scientists to discuss innovative and promising research in the field of NALCN ion channel and related diseases.
Medical Advisory Board is comprised of recognized authorities in the clinical treatment of NALCN channelopathies. Its function is to provide insight, scientific direction and expertise to families and the Foundation.
The scientific advisory Board is led by
Dr. Arnaud Monteil, PhD.
Arnaud Monteil obtained his bachelor’s in biological sciences in 1989 in Montpellier (France). He then studied molecular biology and biochemistry at the University of Montpellier from 1989 to 1996. He started his PhD in 1996 under the supervision of Dr Joël Nargeot (University of Montpellier – Montpellier – France) with the objective to clone and characterize T-type voltage-gated calcium channels, a subtype of calcium channels that was not identified at this time. The thesis was successfully defended in 2000 and led to several publications of importance in the fields of ion channels and cellular excitability. After his thesis defense, Arnaud Monteil joined Prof Richard J. Miller’s laboratory as a post-doctoral fellow at the University of Chicago (Chicago – USA) where he identified and cloned a novel type of four-domain ion channel named NALCN. He went back to France in 2001 as a permanent researcher at the National Center for Scientific Research (CNRS). Since then Arnaud Monteil’s research is concerned with ion channels in Dr Philippe Lory’s team (« Ion channels in neuronal excitability and diseases » – Institut de Génomique Fonctionnelle – Montpellier ; http://www.igf.cnrs.fr). Dr Philippe Lory’s team is part of the Laboratory of Excellence « Ion Channel Science and Therapeutics » (http://www.labex-icst.fr/en). The overall ambition of this laboratory of excellence is to become a world-wide recognized cluster in ion channel studies carrying research and innovation at the interface between biology and medicine. In this context, the research projects headed by Arnaud Monteil focus on the study of ion channels’ mutations involved in complex neurological disorders using molecular and electrophysiological techniques both in vitro (cell lines ; primary cultures) and in vivo (animal models). A special emphasis is to search for new molecules modulating ion channels activity that could be relevant to treat human diseases. Of note, Arnaud Monteil supervised 2-year exchange programs (Hubert-Curien Program 2013-2014 and 2020-2021) with Dr Narawut Pakaprot at Mahidol University (Thailand). In addition to his research activity, Arnaud Monteil is the head of a facility to produce viral vectors for research since 2008 (http://www.biocampus.cnrs.fr) and is the president of the « Ion Channel » society since 2014 (http://www.canaux-ioniques.fr/). Arnaud Monteil is also an elected member of the National Committee of the CNRS (CoNRS, Sub-committee #24 “Aging, Tumorigenesis, Physiology”) since 2016.
University of British Columbia in Victoria – Canada
Dr. Leigh Anne Swayne is an Associate Professor in the Division of Medical Sciences at the University of Victoria in Victoria, British Columbia, Canada. Dr. Swayne received her PhD from the University of Calgary (Calgary, Canada) and postdoctoral training at L’Institut de Génomique Fonctionnelle – Centre national de la recherche scientifique (Montpellier, France) and the University of Ottawa (Ottawa, Canada). Her team studies the fundamental mechanisms of cellular development in the brain and the heart, in particular, how these processes are controlled by ion channel proteins (large regulated ‘doorways’ enabling ion and metabolite flux across cellular membranes) and their interacting partners. The primary focus of her research centres on pannexin channel proteins, including the role(s) of pannexins in regulating the development of nerve cells as well as the mechanisms that govern pannexin localization within cells. The outcomes of this work have important implications for the understanding of neurodevelopmental disorders, as well as other diseases and disorders involving pannexins within and outside the nervous system. Additionally, part of her team is investigating the role(s) of an ion channel anchoring protein, called ankyrin-B, in heart and nerve cell development in collaboration with Dr. Laura Arbour’s group at the University of British Columbia. Dr. Swayne’s research is currently supported by operating grants from the Canadian Institutes of Health Research and the Natural Sciences and Engineering Research Council of Canada.
University of Toronto at Mississauga – Canada
Adriano Senatore obtained his Ph.D. at the University of Waterloo, where he studied the molecular evolution of various ion channels, including voltage-gated calcium channels and the sodium leak channel NALCN. For his postdoctoral studies, Adriano studied the evolution of neural circuits and behavior in marine molluscs at Georgia State University, funded by an NSERC postdoctoral fellowship. Subsequently, Adriano went on to a Grass Fellowship at the Marine Biological Laboratory, to conduct pilot molecular, transcriptomic and behavioral studies on the early-diverging invertebrate Trichoplax adhaerens, a simple animal that is emerging as a key experimental organism for studying the evolution of complex animal traits, including the nervous system. As a principal investigator at the University of Toronto (since 2015), Adriano has combined his interests in ion channel structure and function, with questions about the evolution of electrical and synaptic signalling, using Trichoplax as a central research subject. To this end, he and his team are exploring the functional, proteomic and physiological evolution of a range of important neural signaling genes including voltage-gated calcium channels, NALCN, G-protein coupled receptors, Degenerin/ENaC sodium channels and ionotropic glutamate receptors.
IGF. Institut de Génomique Fonctionnelle – Montpellier. France
Xavier Bonnefont is a permanent CNRS investigator working at the IGF in Montpellier on the interplay between hormonal rhythms and the body 24-hour clock, two vital functions that are altered by mutations of the Nalcn gene. Trained as a physiologist, Xavier Bonnefont obtained his PhD in Neuroscience (University of Montpellier, 2000) under the supervision of Patrice Mollard with whom he characterized cellular calcium dynamics and functional networks in the pituitary gland involved in growth and reproduction. He then joined Bert van der Horst’s team at the Erasmus University of Rotterdam where he received a solid hands-on introduction in mouse genetics, and investigated the molecular and electrophysiological cogwheels of clock neurons, with the support of an Individual Marie Curie Fellowship from the European Community. Now a tenured researcher since 2003, Xavier Bonnefont has been using a combination of molecular tools and state-of-the-art physiological approaches (e.g. cell imaging in vivo) to interrogate how body rhythms are generated and coordinate endocrine secretions. This line of research has attracted funding from national (ANR, ANSES…) and international agencies (European Reintegration Grant). He has also developed a long-standing bilateral collaboration with Prof. Kazuhiro Yagita, now at the Kyoto Prefectural University of Medicine, partly supported by a 2-year joint grant (Sakura Program). All in all, Xavier Bonnefont has supervised the work of a dozen of master and PhD students and post-doctoral fellows.
Besides his research activity, Xavier Bonnefont participated in the Executive Body of French research societies, in Chronobiology (Treasurer) and Neuroendocrinology (Member at large). He has served for 5 years as Scientific Head of the Animal Facility at the IGF, and has been an active member of the Ethics Committee for animal investigation in the Montpellier area since 2009.
Tenured Investigator of the Spanish Council for Scientific Research (CSIC), working at the Instituto de Neurociencias (UMH-CSIC) in Alicante, Spain.
Felix Viana is Tenured Investigator of the Spanish Council for Scientific Research (CSIC), working at the Instituto de Neurociencias (UMH-CSIC) in Alicante, Spain. He studied Medicine at the Universidad de Santiago de Compostela (Spain), obtaining his degree in 1983. He received his PhD in Physiology and Biophysics from the University of Washington (Seattle, USA) and postdoctoral training with Prof. Bertil Hille (University of Washington) and Prof. Bernd Nilius (KULeuven, Belgium).
In 1997 he moved back to Spain, to the Instituto de Neurociencias (Alicante), one of the leading centers for neuroscience research in the country. Currently, he is Co-director of the Sensory Transduction and Nociception Group. His laboratory studies the fundamental events involved in the detection of thermal, mechanical and noxious stimuli by the peripheral nervous system, in particular, the roles of different Transient Receptor Potential (TRP) channels and potassium channels, using a combination of experimental approaches, from behavioral studies in transgenic animals to molecular and biophysical characterization of ion channels. These studies are relevant for understanding the mechanisms of chronic pain, the identification of novel analgesic targets and the characterization of new drugs for the treatment of chronic pain syndromes.
Félix Viana has a life-long interest in the physiology on ion channels, and has researched in multiple topics in this area, including motoneuron excitability, amygdala neuromodulation, epilepsy, regulation of ion channels by G protein coupled receptors, endothelial calcium signaling, cellular volume regulation and the role of ion channels in energy homeoestasis.
He has been actively involved in the organization of different ion channel related events, including workshops, networks and courses, at the national and international level. He was founding member of the Red Española de Canales Iónicos (RECI http://www.reci-ionchannel.org) and is now part of the Spanish Ion Channel Initiative (SICI).
Félix Viana served as Treasurer (2007-09) and Vice-President (2009-11) of the Spanish Neuroscience Society (SENC). He sits on the advisory board of Labex ICTS (https://www.labex-icst.fr), a French multilaboratory consortium devoted to advance ion channel research.
He holds editorial roles in several leading journals, including Channels, The Journal of Neuroscience, Frontiers in Molecular Neuroscience, PAIN and Pain Neurobiology.
Head of the Epilepsy Program at the Neurology Department of the Ruber International Hospital. Madrid, Spain
Dr. Gil-Nagel studied medicine and completed his PhD at Complutense University of Madrid. After completing his residency in neurology at the University Hospital 12 de Octubre he specialized in childhood and adult epilepsy at the Minnesota Comprehensive Epilepsy Program. Since then he has worked at epilepsy centers at the University of Minnesota, Gillette Children’s Hospital, St Paul Ramsey Medical Center, and Rush Medical Center in Minneapolis and Chicago. Since 1998, he has been the head of the Epilepsy Program at the Neurology Service of the Ruber International Hospital. This Center is composed of professionals educated in the best national and international centers, who are committed to the development of neurosciences at the highest level. The Center has educated numerous epilepsy specialists, many of whom are currently in charge of Spanish and international epilepsy centers.
Dr. Gil-Nagel is an international leader in the field of epilepsy care and research, especially in the diagnosis and identification of the epileptic focus, the selection of candidates for refractory epilepsy surgery, the diagnosis and treatment of epileptic encephalopathies and the development of new drugs. Ruber International Hospital’s Epilepsy Program holds research partnerships with numerous international centers and patient associations. It also collaborates in research and teaching with national centers, such as the Center for Biomedical Technology at the Polytechnic University of Madrid, Francisco Vitoria University and IE University, among others. He has been one of the founders of the European Reference Network in Epilepsy (E-Pilepsy), the European Epilepsy Monitoring Association and the Spanish Epilepsy Society, maintaining an active collaboration with these associations, as well as with other ones, such as the European Epilepsy Brain Bank. He was also the director of the Epilepsy Group of the European Federation of Neurological Societies (EFNS) and a member of the Epilepsy Group of the World Federation of Neurology (WFN). Through these activities, Dr. Gil-Nagel actively participates in the research and development in the knowledge of epilepsy, which allows him early access to new therapies, which he can then apply to the treatment of patients, something essential in these days in which neurosciences evolve with great speed. He has also worked as an expert in national organizations, such as the Spanish Agency of Medicine, and international organizations, such as the International League against Epilepsy.
In the Epilepsy Program that he leads, there have been developed pioneering techniques in the treatment of epilepsy, such as deep electrodes, thermocoagulation, gamma radio surgery, clinical trials with new drugs, and repositioning of drugs, which have been applied to adults and children with refractory epilepsy. He is also actively involved in research projects, with a particular focus on the diagnosis and treatment of difficult-to-control epilepsy (refractory epilepsy) in children and adults. Some of these projects have already provided relevant information on the understanding of symptoms and electroencephalogram during seizures, the use of magnetoencephalography (MEG), as well as genetic and metabolic study in epilepsy. Thanks to this research it has been possible to develop new drugs and make changes that have increased the accuracy of the surgical treatment.
The Epilepsy Program’s work has transformed the Center into an international reference point for the recruitment of patients for clinical trials and observational studies. Dr. Gil-Nagel is a regular speaker at national and international scientific meetings, and has over 100 articles published in international scientific journals. He is also the author of several books on neurology, epilepsy and electroencephalography.
Dr. Gil-Nagel’s team members are:
- Dr. Ángel Aledo Serrano
- Dra. Carla Anciones Martín
- Dra. Irene García Morales
- Dr. Rafael Toledano Delgado
- Degree in Medicine and Surgery
Complutense University of Madrid, 1985
- Neurology Specialist
Hospital 12 Octubre, Madrid 1986-1989
- Epilepsy Specialist
Minnesota Comprehensive Epilepsy Program
University of Minesotta, Minneapolis, USA, 1991-1993
- American Board of Clinical Neurophysiology, 1997
- Assistant Professor
Epilepsy Program and Department of Neurology
University of Minesotta, Minneapolis, USA, 1993-1995
- Assistant Professor
Epilepsy Program and Department of Neurological Sciences
Rush-Presbyterian-St. Luke’s Medical Center, Chicago, USA, 1995-1998
- Head of the Epilepsy Program
Neurology Service, Hospital Ruber Internacional, Madrid, 1998
- PhD in Medicine
Complutense University of Madrid, 2014
Thesis: Clinical and neurophysiological study in the pre-surgical screening of epilepsy.
Since 2009- Member of the Committee on the Educational Course: “European Federation of Neurological Societies”.
2009-2011 Member of the Scientific Committee, World Congress of Neurology, “World Federation of Neurology”, Marrakesh 2011
From 2008-2011: Director of the Epilepsy Group of the European Federation of Neurological Societies.
Since 2006-2011 Representative of Spain, “World Federation of Neurology”
Since 2006-2011 Member of the Editorial Board of “World Federation of Neurology”
Since 1996 Member “American Clinical Neurophysiology Society”
Since 1991 Member, “American Academy of Neurology”
Since 1991 Member, “American Epilepsy Society”
Since 1988 Member “Spanish Society of Neurology”
2007-09: Member of the Scientific Committee of the European Federation of Neurological Societies.
2007-08 Vice-President of the Scientific Committee, “12th Congress of the European Federation of Neurological Societies”, Madrid, August 2008
2004-07: Delegates for Spain in “European Federation of Neurological Societies”.
Member of the European Neurological Society since 2011
Honorary Member of the Madrid Epilepsy Association
2011 Epilepsy Group Scientific Award from the Spanish Society of Neurology
Department of Drug Design and Pharmacology at the University of Copenhagen, Denmark
Dr Stephan Pless is a Professor at the Department of Drug Design and Pharmacology at the University of Copenhagen, Denmark. He studied biochemistry and molecular biology at the University of Hamburg, Germany. He then obtained his PhD from the Queensland Brain Institute at the University of Queensland, Australia, after working on the function of glycine receptors using electrophysiology and fluorescence. This was followed by postdoctoral training at the University of British Columbia, Canada, where he utilized chemical biology to manipulate voltage-gated ion channels to study their function and pharmacology. His team at the University of Copenhagen works on a variety of approaches, including electrophysiology, fluorescence and chemical biology to study structure, function and pharmacology of ion channels and ion channels complexes, with a particular focus on the sodium leak channel NALCN and trimeric ligand-gated channels (ASIC and P2X).
Instituto de Neurociencias CSIC-UMH, San Juan de Alicante, Alicante, Sp
Isabel is a CIDEGENT, Young IBRO and Ramón y Cajal distinguished researcher. She studied biological sciences at the University of Valencia. She moved to the Max-Planck-Institute for Brain Research (Frankfurt am Main, Germany) to study new molecular regulators of synaptic function in the central nervous system under the supervision of Prof. Dr. Heinrich Betz. After obtaining her PhD in Biochemistry in 2011 from the Goethe University Frankfurt, she moved to the laboratories of Prof. Beatriz Rico and Prof. Oscar Marín at the Instituto de Neurociencias CSIC-UMH (Alicante, Spain) and later at King’s college London (UK). During her postdoctoral training she investigated the impact of synaptic regulators on GABAergic interneuron development and function in the cerebral cortex. Subsequently, she performed a second postdoctoral training at the Neurocentre Magendie in Bordeaux (France) to study neural allocation mechanisms of learning and memory. In 2019, Isabel became principal investigator of the Neural Plasticity Team of the Centro de Investigación Príncipe Felipe (Valencia, Spain) to study plasticity mechanisms underlying cognitive function. Since then, her lab employs behavioural, electrophysiological, molecular and neural circuit tracing approaches to understand how the structural and functional properties of specific neurons supports the emergence of cognitive functions such as learning and memory or attention.
Besides her research activity, since 2020 Isabel is involved in the Young IBRO committee, in Committee for Ethics of Animal experimentation and welfare (CEBA, CIPF) and is a founding member of the ACCENT association (Association of Researchers of the Scientific Excellence Program PlaGenT in the Valencia Community).
University of Sydney / Children’s Medical Research Institute (CMRI)
Associate Professor Leszek Lisowski is a mid-career researcher with research interest is in genetic engineering of viral vectors and genome engineering for use in gene therapy approaches. Trained as a molecular biologist in graduate school, he developed and performed safety evaluation of lentiviral vectors for the treatment of β-thalassemia. During that time, he gained expertise in all aspects of vector design, production, transduction, transgene expression and analysis in vitro and in vivo. During postdoctoral training in the laboratory of Prof Mark A. Kay, one of the leaders in the field of adeno-associated virus (AAV) vectorology and liver diseases, he expanded his knowledge and skills in the field of vectorology, including recombinant AAV vector design, production, and evolution via multispecies interbreeding. He developed novel rAAV vectors capable of specific integration and transgene expression from safe genomic loci. He demonstrated successful gene editing in induced pluripotent stem cells (iPS) and embryonic stem cells using zinc finger nucleases. In the Kay lab he also improved AAV shuffling technology and used this technology to perform AAV selection in vivo using animals repopulated with human hepatocytes. This led to the identification of the first human-specific rAAV vector with improved resistance to neutralization by human IgG antibodies. Following his postdoctoral training, A/Prof. Lisowski was recruited by the Salk Institute for Biological Studies to run Gene Transfer, Targeting and Therapeutic (GT3) facility that specialized in viral vector development and manufacturing in support of wide range of research activities at the Salk and other academic institutions. In 2015 he was recruited by the University of Sydney / Children’s Medical Research Institute (CMRI) to establish his independent research team, Translational Vectorology Research Unit (TVRU) and to establish and manage Vector and Genome Engineering Facility (VGEF). His research concentrates on the studies of liver and CNS biology, AAV biology and vectorology, development of novel bioengineered AAV variants using techniques such as Directed Evolution, in silico design, or directed genetic drift. His team is also developing novel AAV vectors for in vitro and in vivo genome engineering without the use of endonucleases. In addition, his group specializes also in development and improvement of viral vector manufacturing technologies, including upstream production and downstream purification, with special interest in clinical vector manufacturing.
Currently, A/Prof. Lisowski is working closely with the NSW Government and key decision makers at the Westmead Research Precinct to establish an Advanced Therapeutics Translational Program (ATTP), which will specialize in the development and clinical implementation of gene therapies for paediatric and adult disorders.