Medical and Scientific Advisory Team
L. Felipe Barros, MD, PhDCentro de Estudios Científicos – CECs Valdivia Chile [email protected]
Felipe (MD, 1988; PhD, 1993, University of Chile) has been mystified by Glut1 for a while. His PhD thesis with David Yudilevich was a study of Glut1 in the placenta, followed by a postdoc in Leeds with Steve Baldwin, working on Glut1 & Glut4 regulation. In 2000 he joined the Center for Scientific Studies, a private research institute located on the left bank of the Valdivia river in Patagonia.
Most transporters and enzymes involved in brain energy metabolism are known at the molecular level, but few of them have been characterized functionally. Virtually nothing is known about their acute regulation in situ, and that includes Glut1. Equipped with genetically-encoded sensors and time-lapse fluorescence microscopy, Barros and colleagues are trying to narrow the gap.
Ongoing collaborations are with Bruno Weber (University of Zurich; Mouse), Jimena Sierralta (University of Chile; Drosophila) and Alex Gourine (University College London; pH).
Mackenzie Cervenka MDJohns Hopkins [email protected]
Johns Hopkins Hospital
600 North Wolfe Street
Baltimore, Maryland 21287
Dr. Cervenka is an Associate Professor of Neurology at Johns Hopkins University School of Medicine. She completed her undergraduate studies at the University of Virginia and received her medical degree from the University of Virginia School of Medicine. She then completed her internship in internal medicine and residency in neurology at the University of Maryland Medical Center. Dr. Cervenka completed a 2 year fellowship in epilepsy and clinical neurophysiology at Johns Hopkins and has remained there on faculty in the Epilepsy Division since 2010. She is Medical Director of the Johns Hopkins Adult Epilepsy Diet Center and the Epilepsy Monitoring Unit. The Adult Epilepsy Diet Center is the first of its kind, providing ketogenic diet therapies to adults with intractable epilepsy including Glut1 Deficiency syndrome and smoothly transitioning children from a pediatric to a comprehensive adult diet center. Dr. Cervenka’s research focuses on the efficacy of ketogenic diets in the treatment of adults with epilepsy and refractory status epilepticus.
Darryl De Vivo MDColumbia University [email protected]
Darryl C. De Vivo MD
Founding Director of the Colleen Giblin Research
Laboratories for Pediatric Neurology
The Neurological Institute of New York
Columbia University Irving Medical Center
710 West 168th Street, Suite 201
New York, New York 10032-3784
Dr. De Vivo is the Sidney Carter Professor of Neurology, Professor of Pediatrics, and Director Emeritus (1979-2000) of the Pediatric Neurology Service at Columbia University Medical Center in New York City. Dr. De Vivo received his MD Degree from the University of Virginia Medical School. Residency training in Medicine, Pediatrics, Neurology and Pediatric Neurology followed at Harvard, National Institutes of Health and Washington University. He then joined the Medical School Faculty at Washington University and over the next decade was promoted from Assistant Professor to Professor as he developed his clinical research skills in neurochemistry, metabolic diseases and neuromuscular disorders. He joined the Columbia University Faculty in 1979 as the Sidney Carter Professor of Neurology and Pediatrics and Director of the Pediatric Neurology Service. Currently he continues to fulfill his duties as Founding Director, Colleen Giblin Research Laboratories; Founding Director, Pediatric Neuromuscular Disease Center, Co-Director of the Center for Motor Neuron Biology and Diseases (MNC) and Associate Chairman (Neurology) for Pediatric Neurosciences. Dr. De Vivo was a Director for Neurology and President of the American Board of Psychiatry and Neurology, Secretary of the American Academy of Neurology, and President of the Child Neurology Society. He has published more than 500 original articles and reviews, lectures extensively in the U.S. and abroad, serves on several editorial boards and advisory committees, and is a former associate editor for Rudolph’s Textbook of Pediatrics. He is a current editor of “Neuromuscular Disorders in Infancy, Childhood and Adolescence: A Clinician’s Approach”, recognized as the standard reference in the field. Dr. De Vivo receives funding from the NIH, DOD, SMA Foundation, MDA, Hope for Children Research Foundation, Milestones for Children, Glut1 Deficiency Foundation and the Will Foundation. He serves as the Director for the PNCR Clinical Trials Network for SMA and he oversees several other sponsored clinical trials involving rare diseases such as MELAS, spinal muscular atrophy, muscular dystrophy and Glut1 Deficiency.
Kristin Engelstad MS, CGCColumbia University [email protected]
Kristin Engelstad MS, CGC
Genetic Counselor and Clinical Coordinator
Department of Neurology
Columbia University Irving Medical Center
NI 2nd Floor
710 W. 168th St
New York City, NY 10032
Kris is a board certified genetic counselor at Columbia University. She has a long history of involvement with natural history studies and clinical trials for patients with Glut1 Deficiency Syndrome. She is also involved with various clinical studies in mitochondrial disorders. In addition, Kris provides genetic counseling services for the Columbia University Neuromuscular Clinic and for various clinical trials.
Matthew Gentry, PhDUniversity of Florida [email protected]
Matthew S. Gentry, Ph.D. is Chair of Biochemistry and Molecular Biology in the College of Medicine at University of Florida. He is a prominent brain metabolism scientist who has made seminal discoveries in the realm of brain glycogen and glucose metabolism and how perturbations in these pathways impact neuro-centric diseases.
Matt has nearly 20 years of experience working on glycogen storage diseases (GSD). He did research on cell signaling and cell division at Syracuse University for his Ph.D in Molecular Biology (2003) and then worked on the GSD and childhood dementia called Lafora disease as a postdoctoral scholar in the laboratory of Jack Dixon at UC-San Diego where he defined the biochemical properties of the genes mutated in the disease.
Building on this foundational biochemistry, he has been continuously funded by NIH since 2007 via a K99/R00, multiple R01 grants, and a recent R35 that focuses on Brain Glycogen – Metabolism, Mechanisms, and Therapeutic Potential. He has also been continuously funded by NSF since receiving a NSF CAREER award in 2013 to study the enzymology of metabolic enzymes. His lab now works on a number of GSDs and the role of glycogen in cancer, focusing on defining disease mechanisms, pre-clinical drugs and clinical biomarkers.
Matt was awarded the 2014 NIH IDeA Thomas Maciag Award and the 2018 NINDS Landis Award. He serves on multiple NIH, NSF, and foundation study sections. He is a Journal of Biological Chemistry Editorial Board member and a Council Member for the American Society of Biochemistry and Molecular Biology. He is also a science advisor for the Lafora disease patient advocacy group, Glut1 Deficiency Foundation, and Adult Polyglucosan Body Disease Research Foundation in addition to several for-profit companies.
Prof. Dr. Jörg KlepperChildren's Hospital Aschaffenburg [email protected]
Prof. Dr. Jörg Klepper
Children’s Hospital Aschaffenburg
Klinik für Kinder und Jugendmedizin
Am Hasenkopf; D-63739
Dr. Klepper is the Medical Director of Aschaffenburg Children’s Hospital in Aschaffenburg, Germany. Dr. Klepper’s clinical interests include disorders of brain energy metabolism such as Glut1 Deficiency and pyruvate dehydrogenase. His research interests include the mechanisms and adverse effects of the ketogenic diet on these disorders and establishing international protocols for the use of the ketogenic diet for epilepsy and metabolic disorders. Dr. Klepper earned his medical degree at Frankfurt/M and Würzburg University and completed his pediatric training at Würzburg and Essen University in Germany. He then completed his fellowship at Columbia University in New York City. In addition to his role at Aschaffenburg Children’s Hospital, Dr. Klepper serves as a consultant for pediatric neurology at Essen University and a lecturer on pediatrics at Essen University and Würzburg University. He is a board member of the Neuropaedriatric Society and a member of the German Paediatric Society.
Eric Kossoff MDJohns Hopkins [email protected]
Eric H. W. Kossoff MD
Associate Professor, Neurology and Pediatrics
Medical Director, Johns Hopkins Ketogenic Diet Center
Suite 2158 – 200 North Wolfe Street
Johns Hopkins Hospital
Baltimore, Maryland 21287
Dr. Kossoff is a Professor of Neurology and Pediatrics at Johns Hopkins University in Baltimore, Maryland. He received his medical degree from SUNY at Buffalo School of Medicine in New York, followed by a residency in pediatrics at Eastern Virginia Medical School in Norfolk, Virginia. He completed a fellowship in child neurology and then pediatric epilepsy at Johns Hopkins Hospital in Baltimore. He has been at Johns Hopkins for over 20 years, since 1998. His research and clinical practice focuses on the diagnosis and treatment of childhood seizures and epilepsy, particularly treatments other than medications such as diet, neurostimulation and surgery. Currently the Medical Director of the Pediatric Ketogenic Diet Center at Johns Hopkins, Dr. Kossoff is one of the world experts on ketogenic dietary therapy for neurologic disorders and developed the Modified Atkins Diet for children and adults in 2003. He is dedicated to bringing the use of diet therapies for neurologic disorders to the entire world and was recently the leader of a Task Force within the International League Against Epilepsy to help achieve this goal. He is a coauthor of The Ketogenic and Modified Atkins Diets: Treatments for Epilepsy and Other Disorders, now in its 6th edition, and helped organize both the 2008 and 2018 expert consensus guidelines on ketogenic diet management. Dr. Kossoff is also very involved in teaching and mentorship, and is the Director of the Child Neurology Residency Program at Johns Hopkins.
Umrao Monani, PhDColumbia University [email protected]
Umrao R. Monani, PhD
Professor of Neurology (in Pathology & Cell Biology)
Endowed Chair, Pediatric Neurological Sciences
Center for Motor Neuron Biology & Disease
Columbia University Irving Medical Center
New York, New York 10032
Dr. Umrao Monani is Professor of Neurology (in Pathology & Cell Biology) at the Columbia University Medical Center and a founding member of the Center for Motor Neuron Biology & Disease there. He received his PhD at the Ohio State University and has spent many years engaged in the study of the neuromuscular disorder, spinal muscular atrophy (SMA). He was amongst the first to develop viable SMA model mice and his work has informed SMN repletion treatments for the human disease. More recently, Dr. Monani has turned his attention to Glut1 deficiency syndrome (Glut1 DS) and shown, withDarryl De Vivo, that gene replacement strategies are highly effective in treating a mouse model of the human disease. Currently, Dr. Monani’s lab is engaged in exploring the feasibility of translating the
pre-clinical findings on Glut1 DS into a viable treatment for the human condition.
Dr. Monani has received several awards including the American Academy of Neurology Young Investigator Award, the Sanofi Innovator Award and the Pediatric Neurology Professorship at Columbia University. His lab is dedicated to the study of rare pediatric neurological diseases with a view to eventually treating them.
Juan Pascual MD, PhDUTSouthwestern [email protected]
Juan Pascual MD, PhD
Director and Principal Investigator
Rare Brain Disorders Program
UT Southwestern Medical Center
5323 Harry Hines Boulevard
Dallas, Texas 75390-8813
Dr. Pascual is the inaugural Once Upon a Time Foundation Professor in Pediatric Neurologic Diseases and the Ed and Sue Rose Distinguished Professor in Neurology. He is a tenured professor in four Departments at the University of Texas Southwestern Medical Center at Dallas: Neurology and Neurotherapeutics, Physiology, Pediatrics and the Eugene McDermott Center for Human Growth & Development /Center for Human Genetics, and is Director of the Rare Brain Disorders Program (Clinic and Laboratory). He is also a member of the Division of Pediatric Neurology, of the graduate PhD programs in Neuroscience and Integrative Biology, and of the postgraduate clinical training programs in Neurology, Pediatric Neurology, Pediatrics and Medical Genetics. He also teaches at the UT Southwestern Medical School. In addition, Dr. Pascual is an adjunct professor in the Department of Biological Sciences at the School of Natural Sciences and Mathematics, The University of Texas at Dallas. Dr. Pascual directs a highly collaborative research laboratory and is credentialed campus-wide at Children’s Medical Center Dallas, UT Southwestern University Hospitals and Clinics and Parkland Memorial Hospital, where he consults on inpatients and outpatients with particularly complex or severe diseases. Much of his research is funded by the National Institutes of Health. Dr. Pascual received his MD degree from the Universidad de Granada, Spain. He received his PhD in Molecular Physiology and Biophysics from Baylor College of Medicine in Houston, Texas, under Arthur M. Brown, MD, PhD, McCollum Professor and Chair. His postdoctoral research was conducted under Arthur Karlin, PhD, Higgins Professor and Director of the Center for Molecular Recognition, College of Physicians and Surgeons of Columbia University and, later, at the Colleen Giblin Research Laboratories for Pediatric Neurology at the same institution under a Neurological Sciences Academic Development Award from the National Institute of Neurological Disorders and Stroke. He also received residency training in Pediatrics at Washington University School of Medicine – St. Louis Children’s Hospital and in Neurology and Pediatric Neurology at the Neurological Institute of New York – Columbia University Medical Center. He received certification in Neurology with Special Qualification in Child Neurology from the American Board of Psychiatry and Neurology. As one of few actively practicing pediatric neurologists in the nation who is also a laboratory scientist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance (MRI) both in human subjects and in models of human diseases. His laboratory is located in the newest biomedical research building (NL) at UT Southwestern and is an integral part of the Department of Neurology and Neurotherapeutics. The laboratory is home to scientists from very broad backgrounds and levels of training and expertise who have joined efforts to endow both pediatric neurology and human developmental neuroscience with a strong scientific basis. As a clinician, Dr. Pascual specializes in genetic and metabolic diseases of the nervous and neuromuscular systems of infants, children and adults with a particular emphasis on complex diagnostic problems, second opinions for patients visiting from the rest of the U.S. and abroad, and in clinical trials. Dr. Pascual has special clinical research expertise in rare diseases, glucose metabolism, mitochondrial, degenerative, and multi-organ disorders. Dr. Pascual has co-authored over three dozen scientific, medical and philosophical textbooks. He is the editor, together with Dr. Roger Rosenberg of Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease (5th edition, Academic Press, 2015; 6th edition in preparation). His textbook Progressive Brain Disorders in Childhood (Cambridge University Press) was published in 2017. An avid reader, speaker and humanist, Dr. Pascual is also interested in the philosophy of mind. He is particularly concerned with the proper study of the unique concepts that define the human condition. He is a member of the North Texas Bioethics Network, tasked with enhancing community service, promoting public and professional education and increasing collaborative opportunities for research, teaching and contributions to the literature in the field of bioethics. Dr. Pascual has no interest in – nor is he sponsored by – any business that conducts medical research or lobbies for financial gain.
Toni Pearson MBBS, MDWashington University St. Louis [email protected]
Toni Pearson MBBS, MD
Associate Professor, Neurology
Medical Director, Cerebral Palsy Center
Washington University School of Medicine
660 South Euclid Avenue
Campus Box 8111
Saint Louis, MO 63110
Dr. Pearson is a pediatric neurologist who specializes in movement disorders. She obtained her medical degree from the University of Adelaide Medical School in Australia, and then pursued postgraduate residency and fellowship training in child neurology and movement disorders at Columbia University in New York. She currently directs the program for Pediatric Movement Disorders and Cerebral Palsy at Washington University and St. Louis Children’s Hospital where she also serves as an Associate Professor in Neurology.
Prof. Dr. Michél WillemsenRadboud University [email protected]
Prof. Dr. Michèl Willemsen
Radboud University Medical Center
Amalia Children’s Hospital
Expert Centre for Genetic Movement Disorders
Department of Pediatric Neurology
PO Box 9101 6500 HB
Nijmegen, The Netherlands
Dr. Willemsen completed medical school and his residencies in pediatrics, pediatric neurology, and adult neurology at Radboud University Medical Center in Nijmegen, The Netherlands. He has been a professor of Pediatric Neurology at Radboud since 2012 where he also serves as the head of the Pediatric Neurology Department and the head of Radboud UMC Expert Centre for Genetic Movement Disorders. His fields of clinical and research interest include pediatric movement disorders, neurometabolic and neurodegenerative disorders, especially Sjögren-Larsson syndrome, Ataxia Telangiectasia, Glut1 Deficiency Syndrome, and neurotransmitter biosynthesis defects. Academic teaching contributions include international courses and research focused on the same disorders, leading to numerous publications. Dr. Willemsen is a member of the board of the Dutch Society of Pediatric Neurology, the European Pediatric Neurology Society, and the International Child Neurology Congress. He is a member of many other international organizations on pediatrics, neurology and inborn errors of metabolism; local and national committees on health issues linked to pediatrics and pediatric neurology; and scientific boards of international congresses. He is a member of the editorial boards of the European Journal of Pediatric Neurology, Neuropediatrics, and Developmental Medicine and Child Neurology.
Beth Zupec-Kania RDN, CDThe Charlie Foundation [email protected]
Beth Zupec-Kania RDN, CD
Ketogenic Therapies, LLC
Consultant to The Charlie Foundation for Ketogenic Therapies
Beth is a world-renowned ketogenic expert, clinician, and speaker. She is a registered and certified dietitian and nutritionist. For over 25 years, she has coached medical professionals, patients and families through safe and effective use of nutritional ketosis for neurological disorders, certain cancers and other metabolic based conditions that require careful formulation and laboratory surveillance. Alongside her private practice, she is the primary consultant for the Charlie Foundation. Her work is about health and hope.