Los miembros que componen el comité científico son distinguidos expertos mundiales, que trabajan en estrecha colaboración con la Fundación para ayudarnos a cumplir nuestra misión y objetivos.
El Comité de Investigación constituye la Junta Asesora Científica que aprueba, supervisa y garantiza la excelencia científica de los proyectos de INVESTIGACIÓN que la Fundación financia.
Su función es proporcionar información, dirección científica y experiencia a la Fundación y a las familias.
El Comité de Investigación de la Fundación está compuesto por autoridades de reconocido prestigio en el campo de la neurología y la neurociencia.
Los miembros del comité son referentes internacionales en el campo de la investigación del canal iónico NALCN y su implicación en la salud y enfermedad.
El comité está dirigido por el Dr. Arnaud Monteil, PhD.
El Dr. Monteil tiene un historial científico consolidado en la caracterización de la función
NALCN. Sus numerosas contribuciones al campo y la
generación de herramientas moleculares y genéticas enfocadas en la función NALCN lo han
posicionado como referente científico para abordar cuestiones urgentes tanto en los síndromes de IHPRF1&2
como en el síndrome CLIFHADD
La Junta Asesora Científica está dirigida por el
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.
Contacta Arnaud Monteil: arnaud.monteil@igf.cnrs.fr
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.
Website: https://www.uvic.ca/medsci/people/faculty/swayneleigh-anne.php
Twitter: @dr_swayne
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.
Website: https://www.igf.cnrs.fr/index.php/en/h-teams-en/h-mollard-en
Investigador Titular del Consejo Español de Investigación Científica (CSIC), trabajando en el Instituto de Neurociencias (UMH-CSIC) en Alicante, España.
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.
Website: http://in.umh-csic.es/curriculum.aspx?personal=54
Twitter: @neuroviana
Director del Programa de Epilepsia en el Servicio de Neurología del Hospital Ruber Internacional. Madrid, España.
El Doctor Gil-Nagel estudió medicina y realizó su doctorado en la Universidad Complutense de Madrid. Tras finalizar su residencia en neurología en el Hospital Universitario 12 de Octubre se especializó en epilepsia infantil y de adultos en el Minnesota Comprehensive Epilepsy Program. A partir de entonces ha trabajado en centros de epilepsia de la Universidad de Minnesota, Gillette Children´s Hospital, St Paul Ramsey Medical Center, y Rush Medical Center, en Minneapolis y Chicago. Desde 1998 dirige el Programa de Epilepsia, en el Servicio de Neurología del Hospital Ruber Internacional. Este Centro cuenta con profesionales formados en los mejores centros nacionales e internacionales, que están comprometidos con el desarrollo de las neurociencias al más alto nivel, y en él se han formado numerosos especialistas en epilepsia, muchos de ellos actualmente a cargo de centros de epilepsia españoles e internacionales.
El Dr. Gil-Nagel es una referencia internacional en la atención e investigación de la epilepsia, especialmente en el diagnóstico y la localización del foco epiléptico, la determinación de candidatos para la cirugía de epilepsia refractaria, el diagnóstico y tratamiento de encefalopatías epilépticas y del desarrollo, y el desarrollo de nuevos fármacos. El Programa de Epilepsia del Hospital Ruber Internacional mantiene colaboración en investigación con numerosos centros internacionales, y asociaciones de pacientes. También colabora en investigación y docencia con centros nacionales, como el Centro de Tecnología Biomédica de la Universidad Politécnica de Madrid, la Universidad Francisco Vitoria y IE University, entre otros. Ha sido uno de los fundadores de la European Reference Network in Epilepsy (E-Pilepsy), la European Epilepsy Monitoring Association y la Sociedad Española de Epilesia (SEEP), manteniendo una colaboración activa con estas asociaciones, además de otras como la European Epilepsy Brain Bank. Además fue director del grupo de Epilepsia de la European Federation of Neurological Societies (EFNS) y miembro del grupo de epilepsia de la World Federation of Neurology (WFN). A través de estas actividades el Dr. Gil-Nagel participa activamente en la investigación y desarrollo del conocimiento de la epilepsia, lo cual le permite el acceso precoz a nuevas terapias, que a continuación puede trasladar al tratamiento de los pacientes, algo fundamental en estos tiempos en que las neurociencias evolucionan con gran velocidad. También ha actuado como experto en organizaciones nacionales, como la Agencia Española del Medicamento, e internacionales, como la Liga Internacional contra la Epilepsia.
En el Programa de Epilepsia que dirige, se han desarrollado técnicas pioneras en el tratamiento de la epilepsia, como electrodos profundos, termocoagulación, radiocirugía gamma, ensayos clínicos con nuevos medicamentos, y reposicionamiento de fármacos, que se han aplicado a adultos y niños con epilepsia refractaria. También participa activamente en proyectos de investigación, con un enfoque particular en el diagnóstico y tratamiento de la epilepsia difícil de controlar (epilepsia refractaria) de niños y adultos. Algunos de estos proyectos ya han proporcionado información relevante sobre la interpretación de los síntomas y el electroencefalograma durante las crisis, el uso de la magnetoencefalografía (MEG), así como el estudio genético y metabólico en la epilepsia. Gracias a esta investigación ha sido posible el desarrollo de nuevos fármacos y realizar modificaciones que han aumentado la precisión del tratamiento quirúrgico.
La labor del Programa de Epilepsia ha convertido el Centro en una referencia internacional para el reclutamiento de pacientes para ensayos clínicos y estudios observacionales. El Dr. Gil-Nagel es un conferenciante frecuente en reuniones científicas nacionales e internacionales, y ha publicado más de 100 artículos en revistas científicas internacionales. Además, es autor de varios libros sobre neurología, epilepsia y electroencefalografía.
El equipo del Doctor Gil-Nagel está formado por:
- Dr. Ángel Aledo Serrano
- Dra. Carla Anciones Martín
- Dra. Irene García Morales
- Dr. Rafael Toledano Delgado
CV:
- Licenciado en Medicina y Cirugía
Universidad Complutense de Madrid, 1985 - Especialista en Neurología
Hospital 12 Octubre, Madrid 1986-1989 - Especialista en Epilepsia
Minnesota Comprehensive Epilepsy Program
University of Minesotta, Minneapolis, EEUU, 1991-1993 - American Board of Clinical Neurophysiology, 1997
- Assistant Professor
Epilepsy Program y Department of Neurology
University of Minesotta, Minneapolis, EEUU, 1993-1995 - Assistant Professor
Epilepsy Program y Department of Neurological Sciences
Rush-Presbyterian-St. Luke’s Medical Center, Chicago, EEUU, 1995-1998 - Director del Programa de Epilepsia
Servicio de Neurología, Hospital Ruber Internacional, Madrid, 1998 - Doctor en Medicina
Universidad Complutense de Madrid, 2014
Tesis: Estudio clínico y neurofisiológico en la evaluación prequirúrgica de la epilepsia.
SOCIEDADES
Desde 2009- Miembro del Comité del Curso Educativo: “European Federation of Neurological Societies”.
2009-2011 Miembro del Comité Científico, World Congress of Neurology, “World Federation of Neurology”, Marrakesh 2011
Desde 2008-2011 Director del Grupo de Epilepsia de “European Federation of Neurological Societies”.
Desde 2006-2011 Representante de España, “World Federation of Neurology”
Desde 2006-2011 Miembro del Comité Editorial de “World Federation of Neurology”
Desde 1996 Miembro “American Clinical Neurophysiology Society”
Desde 1991 Miembro, “American Academy of Neurology”
Desde 1991 Miembro, “American Epilepsy Society”
Desde 1988 Miembro “Sociedad Española de Neurología”
2007-09 Miembro del Comité Científico de la “European Federation of Neurological Societies”.
2007-08 Vice-presidente del Comité Científico, “12th Congress of the European Federation of Neurological Societies”, Madrid, Agosto 2008
2004-07 Delegado de España en “European Federation of Neurological Societies”.
Miembro de la European Neurological Society desde 2011
PREMIOS
Miembro de Honor de la Asociación Madrileña de Epilepsia
2011 Premio Científico del Grupo de Epilepsia de la Sociedad Española de Neurología