Wayne Frankel, PhD
- Professor of Genetics and Development (in the Institute for Genomic Medicine) at CUMC
- Director of Preclinical Disease Models, Institute for Genomic Medicine
My research is devoted to understanding the genetic basis of neurological disorders with an emphasis on epilepsy and a growing interest in closely related synaptic disorders that include seizures, such as autism and intellectual disability.
My focus is on better modeling epilepsy at the physiological and molecular level using a multidisciplinary approach - genetics, genomics, cell biology and biochemistry - in genes encoding ion channels, synaptic molecules, RNA binding proteins and others. We are currently modeling severe pediatric epileptic encephalopathies in laboratory mice. Much of our research is part of a multi-platform close collaboration with other members of the Institute for Genomic Medicine (IGM), towards development of precision medicine-based novel therapies. I also provide oversight in mouse genetics, genomics and biology for the IGM as its director of preclinical models, and am the program director of the Mouse Neurobehavioral Core (MNBC), to open in 2017
MODELING GENE-SPECIFIC THERAPY OF INTRACTABLE CHILDHOOD EPILEPTIC ENCEPHALOPATHY (Federal Gov)
Sep 3 2019 - Sep 2 2022
GENETIC DETERMINANTS OF EPILEPSY IN MURINE SYSTEMS (Federal Gov)
Jul 1 2018 - Jun 30 2021
RNA BINDING PROTEINS IN COMPLEX NEUROLOGICAL DISEASE (Federal Gov)
Feb 1 2015 - Jul 31 2020
THE JACKSON LABORATORY CENTER FOR PRECISION GENETICS: FROM NEW MODELS TO NOVEL THERAPEUTICS (Federal Gov)
Aug 15 2015 - Jun 30 2020
Asinof S, Mahaffey C, Beyer B, Frankel WN, Boumil R. Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy. Neurobiol Dis. 2016 June 27.pil: S0969-9961(16)30154-1.
Dhindsa RS, Bradrick SS, Yao X, Heinzen EL, Petrovski S, Krueger BJ, Johnson MR, Frankel WN, Petrou S, Boumil RM, Goldstein DB. Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.
Neurol Genet. 2015, Apr 17;1(1):e4.
Asinof SK, Sukoff Rizzo SJ, Buckley AR, Beyer BJ, Letts VA, Frankel WN, Boumil RM. Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy. PLoS Genet. 2015, Jun 30;11(6):e1005347.
Letts VA, Beyer BJ, Frankel WN. Hidden in plain sight: spike-wave discharges in mouse inbred strains. Genes Brain Behav. 2014, Jul;13(6):519-26.
Oliva MK, McGarr TC, Beyer BJ, Gazina E, Kaplan DI, Cordeiro L, Thomas E, Dib-Hajj SD, Waxman SG, Frankel WN, Petrou S. Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy. Neurobiol Dis. 2014, Jul;67:180-90.
Wagnon JL, Briese M, Sun W, Mahaffey CL, Curk T, Rot G, Ule J, Frankel WN. CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function. PLoS Genet. 2012, 8(11):e1003067.
Sun W, Wagnon JL, Mahaffey CL, Briese M, Ule J, Frankel WN. Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. J Physiol. 2013, Jan 1;591(1):241-55.
Tokuda S, Mahaffey CL, Monks B, Faulkner CR, Birnbaum MJ, Danzer SC, Frankel WN. A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice. Hum Mol Genet. 2011, Mar 1;20(5):988-99.
Boumil RM, Letts VA, Roberts MC, Lenz C, Mahaffey CL, Zhang ZW, Moser T, Frankel WN. A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. PLoS Genet. 2010, Aug 5;6(8).
Tokuda S, Beyer BJ, Frankel WN. Genetic complexity of absence seizures in substrains of C3H mice. Genes Brain Behav. 2009, Apr;8(3):283-9.
Beyer B, Deleuze C, Letts VA, Mahaffey CL, Boumil RM, Lew TA, Huguenard JR, Frankel WN. Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4. Hum Mol Genet. 2008, Jun 15;17(12):1738-49.
Yang Y, Mahaffey CL, Bérubé N, Maddatu TP, Cox GA, Frankel WN. Complex seizure disorder caused by Brunol4 deficiency in mice. PLoS Genet. 2007, Jul;3(7):e124.