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.

University of Michigan Weill Cornell Medical College Northwestern University University of California, San Francisco St. Jude Children's Research Hospital University of Miami

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's headshot

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's headshot

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.

EpiMVP 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's Headshot

Yu Wang, MD, PhD

Dr. Yu Wang is Assistant Professor of Neurology at the University of Michigan Medical School

Scott Baraban's headshot

Scott C. Baraban, PhD

Dr. Scott Baraban is Professor of Neurological Surgery at the UCSF Medical School Weill Institute for Neurosciences

Margaret Ross' headshot

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 Carville's Headshot

Gemma L. Carvill, PhD

Assistant Professor, Department of Neurology at Northwestern University

Michael Uhler's headshot

Michael Uhler, PhD

Professor of Biological Chemistry and Research Professor of the Michigan Neuroscience Institute at the University of Michigan

Santiago Schnell's Headshot

Santiago Schnell, DPhil

Professor, Department of Molecular & Integrative Physiology at the University of Michigan

Heather Mefford's Headshot

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.

Sarah Weckhuyusen's headshot

Dr. Sarah Weckhuysen, PhD

Assistant Professor, Department of Neurology, University of Antwerp

John Huguenard's headshot

Dr. John Huguenard, PhD

Professor of Neurology, Stanford University

Dianalee McKnight's headshot

Dr. Dianalee McKnight, PhD, FACMG

PhD, FACMG, Medical Affairs Director, Emerging Clinical Omics, Invitae

Josef Gecz's headshot

Dr. Jozef Gecz, PhD

Head of Neurogenetics, Adelaide Medical School

Karen Wilcox's headshot

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's headshot

Vicky Whittemore, PhD

Program Director of the Division of Neuroscience, NIH

Miriam Leender's headshot

Miriam Leenders, PhD

Program Director of the Division of Neuroscience, NIH

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