Meet Our Advisors

Dr. Bearden is a board-certified pediatric neurologist with a focus on neurogenetic disorders affecting the central nervous system, including epilepsy and autism. In addition, Dr. Bearden has expertise in neurologic problems associated with immunodeficiencies and central nervous system infections. Dr. Bearden’s research focuses on the epidemiology and optimal treatments of genetic epilepsies, with a particular interest in channelopathies. Dr. Bearden did his residency and fellowship at the Children’s Hospital of Philadelphia, and is currently an Associate Professor at the University of Rochester. Dr. Bearden is the Principal Investigator of several studies evaluating KCNT1-related epilepsy.

Dr. Nabbout is Professor of Paediatric Neurology at University Paris cité and Director of the French reference centre for Rare Epilepsies at Necker Enfants Malades, Paris, France.

She is a member of the steering committee of EPICARE (European reference network on rare and complex epilepsies), chair of ILAE transition task force (TF) and member of nosology, medical therapies and Snomed TF. She is member of the European joint program on rare diseases and of IRDIRC and president of the scientific committee of the French National Data Bank for Rare Diseases. She is member of the scientific committees of numerous French, EU and international patients’ groups.

Professor Nabbout is holder of a Chair on genetic epilepsies at Imagine Institute (INSERM U1163) where she is leading in the group “Translational Research for Neurological Diseases” and coordinating the funded Innov4ePiK, a private-public research program on K-related epilepsies.

Her research focus on childhood epilepsies natural history and mechanisms biomarkers, orphan drugs in epilepsies emphasizing the need of patients’ centred and innovative end points and on transition from childhood into adulthood. She has authored over 300 peer-reviewed articles and received H2020, FP7 grants and research budget from FAMA funds and other philanthropic foundations.

Mark P. Fitzgerald, MD, PhD, is an attending pediatric epileptologist in the Division of Neurology and the Medical Director of the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP). He has a special interest in treating infants and very young children with epilepsy.

Dr. Fitzgerald’s philosophy of care is centered on listening closely to families’ needs and concerns and providing the information and resources to help them make the best decisions for their child. Along with his work at CHOP, Dr. Fitzgerald is an Assistant Professor of Clinical Neurology at the Perelman School of Medicine at the University of Pennsylvania. His research focuses on neurodevelopmental and epilepsy outcomes in children who experienced a lack of oxygen to the brain as newborns. He also studies responses to treatments in a variety of genetic epilepsies. Dr. Fitzgerald is particularly excited about expanding access to genetic testing for children with epilepsy and customizing treatment for children with difficult to control epilepsy.

Sarah M. Ruggiero, MS, LCGC, is a licensed genetic counselor with the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia. She specializes in the genetics of epilepsy and related neurodevelopmental disorders, and worked as a research scientist within multiple laboratories exploring the pathobiology of neurodevelopmental disorders before becoming a Genetic Counselor. Within the Helbig laboratory at the Children’s Hospital of Philadelphia (CHOP), she serves as a link between the clinical and research efforts of the Epilepsy Genetics Research Project. She has an MS in Genetic Counseling from Arcadia University, as well as a BS in Neuroscience and BA in English from the University of Delaware.

Dr. Kaczmarek is a Professor of Pharmacology and of Cellular and Molecular Physiology at Yale University School of Medicine. He carried out his undergraduate and graduate work at the University of London. He continued his research career at UCLA, the University of Brussels, and Caltech before joining the Yale faculty. His laboratory studies biochemical changes in neurons that result in prolonged changes in behavior or sensory processing, and, as part of this work, discovered several new ion channel genes. His group discovered and characterized the KCNT1 (also called Slack) gene which encodes a potassium channel that is activated by sodium ions during neuronal firing, and found that human disease-causing mutations in KCNT1 make these channel hyperactive. He has made animal models of KCNT1 epilepsy and has collaborated with neurologists, geneticists, and clinicians to develop pharmacological and genetic treatments for this condition. One current effort in the laboratory is to discover and correct the way mutations in KCNT1 affect the ability of neurons to make new proteins in response to stimulation, a process that is absolutely required for all learning and that, when perturbed, contributes to severe intellectual disability. He is honored to have had numerous outstanding graduate students and postdocs in his laboratory, thirty-two of whom have gone on to hold tenure-track faculty positions at major institutions.

Dr. Møller is a geneticist, professor of epilepsy genetics and Head of Department of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia/University of Southern Denmark. Her expertise is in the genetic diagnosis of epilepsy, as well as in exploring the possibility of targeted therapies for patients with genetic epilepsies. A major aspect of her research has been to apply research results in clinical practice and her research fields of interest includes 1) identification of novel genes involved in neurodevelopmental disorders and epilepsy by the use of next generation sequencing techniques, 2) functional characterization of genetic defects to understand their pathomechanisms 3) genotype-phenotype correlations including electro-clinical characterization of genetic epilepsy syndromes and 4) improvement of existing or development of new personalized therapies.

Dr. McTague earned her Bachelor of Medicine, Bachelor of Surgery at the University of Edinburgh in 2000. She is a clinician scientist with a research group including a post-doctoral fellow and masters students at the Zayed Centre for Rare Disease Research in Children . Her research vision is to move from precision diagnosis to precision treatment in childhood epilepsy. She is an honorary consultant paediatric neurologist at Great Ormond Street specialising in paediatric epilepsy, in particular early onset epilepsies. As a consultant in the Complex Epilepsy team she sees regional and national referrals and provides expert opinions on children with genetic epilepsies. She undertakes Epilepsy Genomics clinics and has established an Epilepsy Genomics MDT for phenotypic and variant classification.

As an Associate Clinical Professor of Neuroscience at UC San Diego and Director of Batten’s Disease Precision Therapeutics Neuro-Interventional Program at Rady Children’s Hospital, my work bridges advanced medical research and clinical care. My educational background includes a B.A. in Neurobiology and Neurosciences from Columbia University, an M.S. in Physiology and Biophysics from Georgetown University, and an M.D. from The George Washington University School of Medicine and Health Sciences. My expertise lies in clinical neurophysiology, intracranial EEG, clinical trials, and antisense oligonucleotides, with a focus on rare genetic and metabolic epilepsy, epilepsy surgery, and neurodegenerative diseases. As the principal investigator of a CIRM CLIN2 Award for ASOs in developmental epileptic encephalopathies, DISC0 investigator for haploinsufficiencies, NCATS PI for natural history of rare neurodegenerative disorders, and Care & Cure Institute Epilepsy grantee, I contribute to innovative therapeutics and treatments that aim to enhance the lives of children with complex neurological conditions.