Bringing CNS Members Together to Make Children’s Lives Better



CNS Research Committee

Daniel Calame, MD, PhD
Baylor College of Medicine


Dr. Helbig will discuss his lab’s efforts to better identify and treat childhood brain disorders through data science approaches leveraging large-scale genomic and clinical phenotyping data to understand natural histories and treatment responses of childhood epilepsy. He will also discuss Epilepsy Gene Curation through ClinGen, a NHGRI-funded clinical genetics resource to define the clinical relevance of genes and variants for use in Precision Medicine.

About the Speakers

Ingo Helbig, MD

Dr. Helbig is a pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia. Dr. Helbig went to medical school in Heidelberg and Mannheim, Germany, and Lexington, Kentucky, USA. He trained at the Epilepsy Research Centre, Melbourne, Australia, and was Assistant Professor at the Department of Neuropediatics, Kiel, Germany. Between 2011 and 2015, he co-headed the EuroEPINOMICS-RES Consortium, the European counterpart of the NIH-funded Epi4K consortium involved in collaborative genomic studies to identify genes for human epilepsies. He was part of the Genetics Commission of the International League Against Epilepsy (ILAE) from 2014-2017 and currently leads the Epilepsiome Task Force of the ILAE Genetics Commission, which aims at increasing genetic literacy in the epilepsy community. After heading the epilepsy genetics group at the University of Kiel, Germany, he transferred to the Children’s Hospital of Philadelphia (CHOP) in 2014 and became faculty in the Division of Neurology in July 2017. The main focus of his prior work was to understand how genetic changes lead to severe epilepsies in both children and adults, contributing to several new gene findings in the field in the last seven years including GRIN2A, CHD2, KCNA2, HCN1, and DNM1. Dr. Helbig uses clinical and research expertise to curate epilepsy-related genes in variants within his leadership role of the Epilepsy Clinical Domain Working Group.