Institutions
EpiMVP investigators, synergistically working on three projects supported by two scientific cores, will characterize variants in genes identified in patients with epilepsy using an integrative genes-to-proteins, proteins to cell systems, and cell systems to-pre-clinical models approach. An iterative, machine learning strategy, which incorporates all of the resulting data, will generate a VUS prediction tool for use by healthcare providers, patients and families to predict pathogenicity of patient variants.
Principal Investigators
EpiMVP is co-directed by Drs. Isom and Parent, who also serve as Co-PIs of the Administrative Core and lead the EpiMVP Steering Committee. Drs. Isom and Parent bring a unique set of complementary skills and experiences that will insure the highest standards of scientific and administrative oversight of the overall Center.
Lori Isom, PhD
Lori Isom is the Chair of the Department of Pharmacology, a Maurice H. Seevers Collegiate Professor of Pharmacology, a Professor of Molecular and Integrative Physiology and a Professor of Neurology at the University of Michigan.
Jack Parent, MD
Jack Parent is the William J. Herdman Professor of Neurology, Research Professor of the Michigan Neuroscience Institute, director of the Human Stem Cell and Gene Editing Core and co-director of the Comprehensive Epilepsy Center at the University of Michigan.
Investigators
View all investigatorsEpiMVP includes a multidisciplinary team of leaders in the fields of genetic epilepsy and functional modeling. EpiMVP investigators have specialized expertise in epilepsy genetics, electrophysiological assessment of epilepsy models, genetics of brain development, developmental disorders, computational biology and systems physiology, genome editing, stem cell biology and genetic neuropsychiatric disorders.
Yu Wang, MD, PhD
Dr. Yu Wang is Assistant Professor of Neurology at the University of Michigan Medical School
Scott C. Baraban, PhD
Dr. Scott Baraban is Professor of Neurological Surgery at the UCSF Medical School Weill Institute for Neurosciences
M. Elizabeth Ross, MD, PhD
Dr. M. Elizabeth Ross is the Nathan Cummings Professor of Neurology and Neuroscience, and Professor, Feil Family Brain and Mind Research Institute at Weill Cornell Medical College
Gemma L. Carvill, PhD
Assistant Professor, Department of Neurology at Northwestern University
Michael Uhler, PhD
Professor of Biological Chemistry and Research Professor of the Michigan Neuroscience Institute at the University of Michigan
Santiago Schnell, DPhil
Professor, Department of Molecular & Integrative Physiology at the University of Michigan
Heather Mefford, MD, PhD
Professor, Division of Genetic Medicine at St. Jude Children's Research Hospital
Vanessa Aguiar-Pulido, PhD
Assistant Professor, Department of Computer Science, University of Miami, Adjunct Assistant Professor, Feil Family Brain and Mind Research Institute, Weill Cornell Medical College
External Advisors
The EpiMVP External Scientific Advisory Board includes experts in clinical epilepsy and epilepsy genetics, neurophysiology of neural circuit disorders, identification of epilepsy genes and understanding of molecular mechanisms leading to epilepsy, epilepsy pharmacology, and clinical genetic diagnostic testing.
Dr. Sarah Weckhuysen, PhD
Assistant Professor, Department of Neurology, University of Antwerp
Dr. John Huguenard, PhD
Professor of Neurology, Stanford University
Dr. Dianalee McKnight, PhD, FACMG
PhD, FACMG, Medical Affairs Director, Emerging Clinical Omics, Invitae
Dr. Jozef Gecz, PhD
Head of Neurogenetics, Adelaide Medical School
Dr. Karen Wilcox, PhD
Professor and Chair of Pharmacology and Toxicology, University of Utah
NIH Partners
EpiMVP works in close partnership with NINDS. We also work closely with the NIH initiatives ClinGen and ClinVar to inform our VUS studies and ensure translation of our research outcomes into the clinic and industry, ultimately leading to improved molecular diagnosis for patients with epilepsy and their families.
Vicky Whittemore, PhD
Program Director of the Division of Neuroscience, NIH
Miriam Leenders, PhD
Program Director of the Division of Neuroscience, NIH