Dravet Syndrome Foundation’s Scientific Advisory Board oversees the organization’s research activities. 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 Dravet syndrome and associated epilepsies at DSF’s Research Roundtable
Jack Parent, MD, University of Michigan Medical Center
Jack M. Parent, M.D., is a professor of neurology, director of the Neurodevelopment and Regeneration Laboratory, and co-director of the Comprehensive Epilepsy Center in the University of Michigan Medical School. His current research interests include modeling severe childhood epilepsies with patient-derived cells using induced pluripotent stem cells, neural stem cell transplantation to treat brain injury and neurodegeneration, and the modification of adult neural stem cells to promote brain repair after stroke or to prevent epilepsy.
Dr. Parent earned a Bachelor of Arts degree, with distinction, in human biology from Stanford University and his medical degree from the Yale University School of Medicine. He completed a medical internship and neurology residency at the University of California, San Francisco (UCSF), where he was selected chief resident. He stayed at UCSF for clinical fellowship training in epilepsy and clinical neurophysiology, and postdoctoral training in neuroscience research. An internationally recognized research leader in the fields of neural stem cell biology, regeneration after brain injury and epilepsy, Dr. Parent established the Neurodevelopment and Regeneration Laboratory at the U-M in 2000.
Dr. Parent serves on the Board of Directors of the American Epilepsy Society and as Secretary of the American Neurological Association, and is a member of the Epilepsy Foundation of America Research Council, the Medical Advisory Board of the Global Ischemia Foundation, and the Independent Scienctific Review Panel of the New Jersey Commission on Brain Injury Research. He is also Epilepsy Section Editor of Experimental Neurology. Associate Editor for Basic Science of Epilepsy Currents, Associate Editor of Frontiers in Neurogenesis, and is on the editorial boards of Brain Plasticity and Stem Cells International. He has received several awards for his research, including a Paul Beeson Physician Faculty Scholars in Aging Award, a Dreifuss-Penry Epilepsy Award from the American Academy of Neurology, and a Grass Foundation Award in Neuroscience from the American Neurological Association
Scott Baraban, PhD, University of California San Francisco
Scott Baraban, PhD, is a Professor in Residence of Neurological Surgery at the University of California, San Francisco (UCSF) and a William K Bowes. Jr. Endowed Chair in Neuroscience Research. He is a Faculty Member for the PIBS Graduate Program in Neuroscience; the Biomedical Sciences Graduate program; and the Eli & Edythe Broad Center of Regeneration Medicine and Stem Cell Research. Dr. Baraban’s laboratory has active research projects on epilepsy associated with a malformed brain; epilepsy and drug discovery in pediatric models of epilepsy in zebrafish; and development of cell based epilepsy therapy using inhibitory neural progenitor cells.
Education, Training, and Previous Positions
1987: BA, Johns Hopkins University
1994: PhD, University of Virginia
1994-1997: Postdoctoral Fellow, University of Washington, Department of Neurological Surgery
1996-1997: Postdoctoral Fellow, University of Washington, Howard Hughes Medical Institute
1997-1999: Assistant Professor, Case Western Reserve University, Departments of Pediatrics (primary appointment) and Neuroscience (secondary appointment)
1999-Present: Department of Neurological Surgery, UCSF
Selected Professional Memberships and Appointments
Society for Neuroscience
American Epilepsy Society
Selected Honors and Awards
1995: American Epilepsy Society and Milken Family Foundation, Postdoctoral Research Fellowship
1998: Epilepsy Foundation of America, Junior Investigator Research Award
1999: March of Dimes Foundation, Basil O’Connor Starter Scholar Award
2000: Sandler Family Supporting Foundation, UCSF Innovation in Basic Science Award
2001: Symposium Faculty, 21st Merritt-Putnam Symposium (Epilepsy and Disorders of Brain Development)
2003: Esther and Joseph Klingenstein Fund, Fellowship Award in Neuroscience
Selected Recent Publications
- Cobos I, Calcagnotto ME, Vilaythong AJ, Thwin MT, Noebels JL, Baraban SC, Rubenstein JL (2005) Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy. Nature Neuroscience 8, 1059-1068.
- Calcagnotto ME, Paredes MF, Tihan T, Barbaro NM, Baraban SC (2005) Dysfunction of synaptic inhibition in epilepsy associated with focal cortical dysplasia. Journal of Neuroscience 25, 9649-9657.
- Alvarez-Dolado M, Calcagnotto ME, Karkar KM, Southwell DG, Jones-Davis DM, Estrada RC, Rubenstein JL, Alvarez-Buylla A, Baraban SC (2006) Cortical inhibition modified by embryonic neural precursors grafted into the postnatal brain. Journal of Neuroscience 26, 7380-7389.
- Greenwood JSF, Wang Y, Estrada RC, Ackerman L, Ohara PT, Baraban SC (2009) Seizures, enhanced excitation and increased vesicle number in Lis1 mutant mice. Annals of Neurology 66, 644-653.
- Baraban SC, Southwell DG, Estrada RC, Jones DL, Sebe JY, Verdugo-Garcia JMG, Rubenstein JLR, Alvarez-Buylla A (2009) Reduction of seizures by transplantation of cortical GABAergic precursors into Kv1.1 mutant mice. Proceedings of the National Academy of Sciences USA 106, 15472-15477.
- Hortopan GA, Dinday MT, Baraban SC (2010) Spontaneous seizures and altered gene expression in GABA signaling pathways in a mind bomb mutant zebrafish. Journal of Neuroscience30, 13718-13728.
Dennis Dlugos, MD, MSCE, Children’s Hospital of Pennsylvania
Dennis J. Dlugos, MD, is Professor of Neurology and Pediatrics at the Perelman School of Medicine at the University of Pennsylvania; and Director, Pediatric Regional Epilepsy Program at The Children’s Hospital of Philadelphia (CHOP). He received his MD from Columbia University College of Physicians and Surgeons, New York. He completed an internship in Pediatrics at the National Naval Medical Center, Bethesda, Maryland; a residency in Pediatrics at Thomas Jefferson University, Philadelphia, Pennsylvania, and Alfred I. duPont Institute, Wilmington, Delaware; a residency in Neurology / Child Neurology at the University of Pennsylvania Medical Center and CHOP; and his fellowship in Epilepsy and Clinical Neurophysiology at CHOP.
Articles by Dr. Dlugos have been published in Neurology, Annals of Neurology, Epilepsia, the New England Journal of Medicine, and other journals. His clinical and research interests include pediatric epilepsy, epilepsy surgery, epilepsy genetics and pharmacogenetics, clinical trials, and intensive-care EEG monitoring. Dr. Dlugos is chair of the American Epilepsy Society (AES) Life Long Learning Committee, and former chair of the AES Pediatric Content Committee.
Lori Isom, PhD, University of Michigan Medical Center
Dr. Isom received her PhD in Pharmacology at Vanderbilt University School of Medicine in 1987. She completed a postdoctoral fellowship in the laboratory of Dr. William A. Catterall at the University of Washington Department of Pharmacology in 1993 and was subsequently promoted to Lecturer in Pharmacology.
Dr. Isom’s postdoctoral research included the first cloning, sequencing, and expression of voltage-gated sodium channel SCN1B and SCN2B, encoding β1 and β2 subunits, respectively. Dr. Isom began her independent laboratory research program at the University of Michigan Department of Pharmacology in 1995 as an Assistant Professor. She was promoted to Associate Professor with tenure in 2001 and then to full Professor in 2007. She received a secondary appointment as Professor of Molecular and Integrative Physiology in 2009 and was promoted to Assistant Dean for Graduate Education in 2010.
Dr. Isom’s research program focuses on voltage-gated sodium channel structure, function, and role in inherited disease. Her laboratory employs a variety of techniques, including cellular and molecular biology, genetics, and electrophysiology. Highlights of Dr. Isom’s research program at the University of Michigan include the discovery that sodium channel β subunits, in addition to functioning as ion channel modulators, are multifunctional cell adhesion molecules of the immunoglobulin superfamily that regulate neuronal migration, pathfinding, and fasciculation. She reported the first mutation in SCN1B linked to Dravet Syndrome in 2009 and is currently collaborating with Dr. Jack Parent and Dr. Miriam Meisler to investigate SCN1A and SCN1B Dravet Syndrome mutations in human induced pluripotent stem cell (iPSC) neurons and cardiac myocytes.
In addition to her research activities, Dr. Isom has served as the Director of the University of Michigan Program in Biomedical Sciences since 2008. She was recently promoted to Assistant Dean of Graduate Recruitment and Pre-candidate Education in the Medical School. Dr. Isom has served on a number of grant study sections and external review committees and is currently a member of the editorial board of the Journal of Biological Chemistry.
Sookyong Koh, MD, PhD, Emory University
Dr. Koh is a pediatric neurologist with a clinical and research specialization in epilepsy at Children’s Healthcare Atlanta. She is a Marcus Professor in Neurology and Associate Professor, Division of Neurology, Department of Pediatrics at Emory University School of Medicine. Her research is focused on understanding the progressive disease processes and brain damage that devastate many children with epilepsy.
American Epilepsy Society, Child Neurology Society, American Academy of Neurology, Society for Neuroscience
Miriam Meisler, PhD, University of Michigan Medical Center
Dr Meisler’s laboratory is studying neurological disease mutations in genes encoding human voltage- gated sodium channels and phosphoinositide metabolism. To examine the molecular mechanisms of pathogenesis, we generate mouse models of specific human mutations. We are screening patient populations to identify new disease mutations. In related projects, we are cloning several new mouse mutants, using genomic tools including human/mouse genomic sequence comparisons to identify noncoding regulatory sequences.
1968: Ph. D. Ohio State University, Biological Chemistry
1963: B. A. Queens College, CUNY. B. A., Chemistry and Biology
Honors and Awards
2005: Distinguished Biomedical Faculty Lectureship, University of Michigan
2001: AAAS Fellow
1997-99: President, International Mammalian Genetics Society
1995: Sarah Goddard Power Award, University of Michigan
1993: Distinguished Faculty Achievement Award, University of Michigan
1975: Basil O Connor Scholar Award, March of Dimes
2011: Distinguished University Professor, University of Michigan
- Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS and Meisler MH (2011) Rescue of neurodegeneration by transgenic expression of a pathogenic variant of FIG4 responsible for Charcot-Marie-Tooth Disease, PLOS Genetics, 7(6):e1002104162.
- Freilich ER, Jones JM*, Reyes C, Meisler MH* and Pearl PL (2011) Novel SCN1A mutation in a patient with Malignant Migrating Partial Seizures of Infancy, Arch. Neurol. 68:665-671.
- Nicholson G, Lenk GM, Reddel S, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG for the NIH Intramural Sequencing Center, Batish SD and Meisler MH (2011) Distinctive genetic and clinical features of CMT4J, a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4. Brain 134: 1959-1971.
- Ferguson C., Lenk G, Meisler MH (2009) Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 Human Molecular Genetics 18: 4868-4878.
- Sharkey LM, Xiaoyang Cheng, Valerie Drews, David A. Buchner, Julie M. Jones,Monica J. Justice, Stephen G. Waxman, Sulayman D. Dib-Hajj, and Miriam H. Meisler (2009). The ataxia3 Mutation in N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking. J. Neurosci.29:2733-2741.
- Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, and Meisler MH (2009) Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am. J. Hum.Genet. 84:85-88.
- Jin N, Chow CY, Liu L, Zolov SN, Bronson R, Davisson M, Petersen JL, Zhang Y, Park S, Duex JE, Goldowitz D, Meisler MH* and Weisman LS* (2008) VAC14 nucleates a protein complex that is essential for the regulation of PI(3,5)P2 levels in yeast and mouse. EMBO J. 27:3221-34. (*co-senior authors).
- Drews VL, Shi K, de Haan G and Meisler MH (2007) Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A. Mammalian Genome 18:723-31.
- Howell VM, Jones JM, Bergren S, Li L, Billi AC, Avenarius MR and Meisler MH (2007) Evidence for a direct role of the disease modifier SCNM1 in splicing. Human Molecular Genetics 16:2506-2516.
- Chow CY, ZhangY, Dowling J, Jin N, Adamska M, Shiga K, Szigeta K, Shy M, Li J, Zhang X, Lupski JR, Weisman L, Meisler MH (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT type 4G. Nature 448:68-72.
- Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. (2006) Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric Neurol. 34:116-120.
- Levin SI, Aman TK, Khaliq ZM, Grieco TM, Woodruff-Pak DS, Raman IM and Meisler MH. (2006) Impaired motor function and learning in mice with conditional knockout of the Na channel Scn8a (NaV1.6) in cerebellar Purkinje neurons and granule cells. J. Neurophysiology 96:785-93. Epub 2006 May 10.
- Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. (2006) Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia and mental retardation. J Med Genet. 43:527-30. Epub 2005 Oct 19.
- Schmitt-JohnT, Drepper C, Mumann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H (2005) Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics 37:1213-1215.
Ann Poduri, MD, Boston Children’s Hospital
Dr. Ann Poduri is a clinician-scientist at Boston Children’s Hospital. Her research program is focused on understanding the genetic causes of human epilepsy with a long-term goal of creating models of human epilepsy and developing novel therapies. She serves on the faculty of Boston Children’s Hospital’s Department of Neurology, co-directs the Department’s Program in Neurogenetics, and runs the Epilepsy Genetics Program, a clinical consultation service for known or suspected cases of genetic epilepsy coupled with Dr. Poduri’s basic science laboratory. Dr. Poduri’s group studies genetic causes of early onset epilepsy—including inherited and de novo mutations in patients with severe early onset epilepsy and de novo somatic mutations in epileptic brain malformations. She is the Boston Children’s PI of the NINDS-supported Epilepsy Phenome/Genome Project and a Co-Investigator in the NINDS-supported Epi4K sequencing project studying the genetic causes of epileptic encephalopathies and brain malformations. While continuing work on gene discovery, Dr. Poduri’s group has begun modeling candidate epilepsy genes in the zebrafish model with the long-term goal of developing novel therapies for epilepsy that can be translated back to the clinic.
Ingrid Scheffer, AO MB BS PhD FRACP FAHMS FAA
Laureate Professor Ingrid Scheffer is a physician-scientist whose work as a paediatric neurologist and epileptologist has led the field of epilepsy genetics over 25 years, in collaboration with Professor Samuel Berkovic and molecular geneticists. This resulted in identification of the first epilepsy gene and many more genes subsequently. Professor Scheffer has described many novel epilepsy syndromes and refines genotype–phenotype correlation. Her major interests are in the genetics of the epilepsies, epilepsy syndromology and translational research. She has research projects in genetics of speech disorders, autism and intellectual disability. She led the first major reclassification of the epilepsies in two decades as Chair of the International League Against Epilepsy Commission for Classification and Terminology. Awards include American Epilepsy Society Clinical Research Recognition Award, 2013 GSK Award for Research Excellence, ILAE Ambassador for Epilepsy Award, 2013 Emil Becker Prize for child neurology and Asia-Pacific L’Oréal-UNESCO Women in Science Laureate for 2012. She is a Fellow of the Australian Academy of Science and Vice-President of Australian Academy of Health and Medical Sciences. She was co-recipient of 2014 Prime Minister’s Prize for Science and received the Order of Australia in 2014.
Jokūbas Žiburkus, PhD, University of Houston
Jokūbas Žiburkus, PhD, is an Associate Professor of Biology and Biochemistry at the University of Houston. Dr. Žiburkus’ expertise is in neurophysiology, neuroanatomy, neuropharmacology, and live cell imaging. The primary goal of his research is to improve the understanding and treatment options for drug-resistant pediatric epilepsies with an emphasis on Dravet syndrome. “I‘m honored to serve on the DSF Scientific Advisory Board, as we are collectively dedicated to developing new knowledge and through it, an effective therapy for catastrophic epilepsies, a challenging task that requires an open-minded, multidisciplinary and collaborative approach”, said Žiburkus.
Education, Training, and Positions:
1996: B.S., Hillsdale College, Hillsdale, MI
2001: Ph.D., Louisiana State University Health Sciences Center, New Orleans, LA
2001-2003: Postdoctoral Fellow, Johns Hopkins University, Mind/Brain Institute, Baltimore, MD
2003-2006: Research Assistant Professor,
2006-2007: Research Associate, Pennsylvania State University, State College, PA
2007-2014: Assistant Professor, University of Houston, Houston, TX
2014-present: Associate Professor, University of Houston, Houston, TX
Selected Professional memberships:
Federation of European Neuroscience Societies
Society for Neuroscience
American Epilepsy Society
1991-1996: International Academic Scholarship Tuition Award, Hillsdale College, MI.
2001: LSU HSC, Graduate School, Dean’s Award for an Outstanding Dissertation
2004-2005: Epilepsy Foundation of America, Post-Doctoral Fellowship
2008: Epilepsy Foundation of America, Junior Investigator Award
2012: Alzheimer Association, New Investigator Research Award
2014: University of Houston, Teaching Excellence Award
2014: Visiting International Scholar Award, Lithuania’s Ministry of Education and Science and Vilnius Gediminas Technical University, Vilnius, Lithuania
Selected Recent Publications
Epilepsy, seizure models, and ictogenesis.
ö Gu F, Hazra A, Aulakh A and Žiburkus J. (2014) Purinergic control of hippocampal circuit hyperexcitability in Dravet syndrome. Epilepsia.
ö Ingram J, Zhang C, Cressman JR, Hazra A, Wei Y, Koo YE, Žiburkus J, Kopelman R, Xu J, Schiff SJ. (2014) Oxygen and Seizure Dynamics: I. Experiments. Journal of Neurophysiology.
ö Žiburkus J, Cressman JR, Schiff SJ. (2013) Seizures as imbalanced up states: excitatory and inhibitory conductances during seizure-like events. Journal of Neurophysiology.
ö Hazra, A., Rosenbaum, R. Cao, S. Bodmann, B., Josic, K., Žiburkus, J. (2012) Beta adrenergic modulation of spontaneous spatiotemporal activity patterns and synchrony in hyper-excitable hippocampal circuits. Journal of Neurophysiology.
ö Cressman JR, Ullah G, Žiburkus, J., Schiff SJ, Barreto E (2009) The Influence of Sodium and Potassium Dynamics on Excitability, Seizures, and the Stability of Persistent States: I. Single Neuron Dynamics. Journal of Computational Neuroscience
ö Schiff, SJ, Cressman, JR, Barreto E, and Žiburkus, J. (2008) Towards a Dynamics of Seizure Mechanics: Chapter in “Computational Neuroscience in Epilepsy”, Edited by Drs. Soltesz I and Staley K. Elsevier Academic Press.
ö Žiburkus, J., Cressman, J.R., Barreto, E. and Schiff, S.J. (2006) Interneuron and pyramidal cell interplay during in vitro seizure-like events. Journal of Neurophysiology.
Synaptic plasticity: development and aging.
ö Hazra A, Gu F, Berridge C, Aulakh A, Eriksen J* and Žiburkus J. (2013) “Inhibitory neuron and hippocampal circuit dysfunction in an aged mouse model of Alzheimer’s disease” PLoS ONE.
ö Žiburkus J, Dilger E, Lo F-S, Guido W. (2009) “LTD and LTP at the developing retinogeniculate synapse” Journal of Neurophysiology.
ö Seol GH†, Žiburkus J†, Huang SY, Song L, Kim IT, Takamiya K, Huganir RL, Lee H-K, and Kirkwood A. † Equally contributing authors. (2007) Neuromodulators control the polarity of spike-timing dependent synaptic plasticity. Neuron.