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Katherine Helbig’s research focuses on identifying new genetic causes of epilepsy and understanding how genetic variation leads to seizures. An additional research focus is improving access to genetic services for people with epilepsy and investigating the impact of genetics on health outcomes.
Katherine Helbig is a genetic counselor in the Division of Neurology at Children’s Hospital of Philadelphia and Co-Director of the Epilepsy NeuroGenetics Initiative.
Her research interests include identifying new genetic causes of infantile- and childhood-onset epilepsies and understanding how genetic variation leads to seizure disorders. Through her membership in international research consortia including the Epi25 Collaborative and the EuroEPINOMICS Consortium, she has spearheaded gene-discovery efforts in the epilepsies and related neurological disorders and has been involved in the discovery and characterization of over 30 genetic neurological syndromes, including the characterization of pathogenic variants in CACNA1E, encoding the brain-expressed voltage-gated calcium channel CaV2.3, as a cause of a severe early-onset epileptic encephalopathy, and the discovery of a recurrent pathogenic variant in KCNA2, encoding the voltage-gated potassium channel KV1.2, as a novel disease mechanism for Hereditary Spastic Paraplegia.
Helbig has particular expertise in genomic analysis and variant interpretation in the epilepsies. She is a member of the NHGRI-funded ClinGen Epilepsy Gene Curation Expert Panel, which defines the clinical relevance of genes and variants associated with epilepsy. She serves as a variant curation specialist for the NINDS-Funded Channelopathy-Associated Research Center, prioritizing variants in brain-expressed ion channel encoding genes for further characterization in functional model systems.
An additional area of clinical and research interest is improving access to genetic services for people with epilepsy and understanding how the provision of genetic services can improve health outcomes.
Education and Training
BA, Cornell University (Biological Sciences), 2003
MS, Arcadia University (Genetic Counseling), 2009
Titles and Academic Titles
Licensed Genetic Counselor
Co-Director, Epilepsy NeuroGenetics Initiative
American Epilepsy Society, 2007-
American Society of Human Genetics, 2008-
National Society of Genetic Counselors, 2007-
Cornell University Presidential Research Scholar, 1999-2003
Arcadia University Ellington Beavers Fund for Intellectual Inquiry, 2008
NSGC Jane Engelberg Memorial Fellowship, 2019