title: A Model Program for Translational Medicine in Epilepsy Genetics.
abstract: Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical genetic testing may lead to a specific molecular diagnosis for some patients, test results often lead to more questions than answers. As the field begins to focus on therapeutic applications of genetic diagnoses using precision medicine, developing processes that offer more than equivocal test results is essential. The success of precision medicine in epilepsy relies on establishing a correct genetic diagnosis, analyzing functional consequences of genetic variants, screening potential therapeutics in the preclinical laboratory setting, and initiating targeted therapy trials for patients. The authors describe the structure of a comprehensive, pediatric Epilepsy Genetics Program that can serve as a model for translational medicine in epilepsy.
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Lacey A
authors.initials: LA
authors.lastname: Smith
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.|2 F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Jeremy F P
authors.initials: JF
authors.lastname: Ullmann
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.|3 Department of Neurology, Harvard Medical School, Boston, MA, USA.
authors.forename: Heather E
authors.initials: HE
authors.lastname: Olson
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.|3 Department of Neurology, Harvard Medical School, Boston, MA, USA.
authors.forename: Christelle M El
authors.initials: CM
authors.lastname: Achkar
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.|2 F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Gessica
authors.initials: G
authors.lastname: Truglio
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: McKenna
authors.initials: M
authors.lastname: Kelly
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Beth
authors.initials: B
authors.lastname: Rosen-Sheidley
authors.affiliation: 1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.|2 F. M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.|3 Department of Neurology, Harvard Medical School, Boston, MA, USA.
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
mesh_terms: D000818:Animals; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D057285:Precision Medicine; D057170:Translational Research, Biomedical
keywords: epilepsy genetics; precision medicine; translational medicine