Neurodevelopmental disorders, EEG, Data Science, Computational Phenotyping, Bioinformatics
BA, Cognitive Science & History, Vassar College
MSc, Informatics, University of Edinburgh
PhD Candidate, Bioengineering, University of Pennsylvania
West Chester, Pennsylvania
History, furniture making, exercise and race training
Dr Helbig is the Director of Clinical Research at ENDD, an attending Pediatric Neurologist in the Division of Neurology and the Director of Genomic Science at Children’s Hospital of Philadelphia (CHOP), and an Assistant Professor of Neurology at the Perelman School of Medicine, University of Pennsylvania.
Dr Helbig 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) and the Epilepsiome Task Force of the ILAE Genetics Commission, which aims to increase genetic literacy in the epilepsy community. He is an expert in clinical genetics and clinical care for several monogenic neurodevelopmental disorders. His work has led to greater understanding of how genetic changes lead to severe epilepsies including STXBP1, SYNGAP1, GRIN2A, CHD2, KCNA2, HCN1, and DNM1. Recently, his focus has shifted to development of clinical outcome measures and biomarkers for clinical trials.
He received an MD at Ruprechts-Karl University Heidelberg, Medical Faculty Mannheim, Mannheim, Germany. He completed a fellowship in Pediatric Epileptology at the Epilepsy Research Centre, Melbourne, Australia, and did residencies in Pediatrics and Neuropediatrics at the University Hospital Schleswig-Holstein, Germany, and Child Neurology at CHOP.
SYNGAP1-related neurodevelopmental disorder, clinical trial readiness, EEG biomarkers, electronic medical data, machine learning/AI, seizure prediction
BS, Honours Physiology, McGill University
PhD, Computational Neuroscience, University of Chicago
MD, University of Chicago, Pritzker School of Medicine
Toronto, Canada
Further defining the phenotypes of known epilepsy genes, New gene discovery and description in the epilepsies, Caregiver experiences and resiliency factors in caring for neurodiverse children and children with epilepsy
BS with Distinction, Neuroscience, University of Delaware
BA, English, University of Delaware
MS, Genetic Counseling, Arcadia University (now the program at the University of Pennsylvania)
Lenni, PA
Hiking, books, and music (playing and listening)