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Helbig Lab Research Overview
The Helbig lab wants to understand how to better identify and treat childhood brain disorders. View an overview of their research projects below.
Epilepsy Gene Discovery
The Helbig lab is determining the genetic causes of pediatric epilepsy. Genetic testing is integral to their work. This testing allows them to not only gain insights into causes of difficult to treat epilepsies in individuals, but will assist in the discovery of new and wider patterns of the genetic components of epilepsies.
Electronic Medical Record Genomics
The Helbig Lab is collating medical records and genomics to make new discoveries. When studying genes, we must take a holistic approach. Using medical records in combination with genetic analysis, the lab is able to get a more complete and longitudinal picture of each individual’s background to come to comprehensive conclusions about the trajectory of a disease.
It’s not just how we treat patients, but where. Location can be essential to a child’s development, and treatment location is no exception. Several of the lab's projects investigate the potential differences in treatment that may occur between in-person and telemedicine outpatient appointments.
Human Phenotype Ontology
The Helbig Lab is understanding the new language of phenotypes. As of 2017, the cost of a phenome has eclipsed the cost of a genome. This is largely due to the diversity of clinical data. The lab is involved in the ongoing curation of the Human Phenotypic Ontology (HPO) and they develop methods to make sparse and heterogeneous clinical data comparable.
For the last decade, the Helbig Lab has blogged about the genetics of the epilepsies at epilepsygenetics.net. Beyond the Ion Channel has become the official blog of the Genetics Commission of the International League Against Epilepsy (ILAE). The Channelopathist is a frequently used resource that keeps the community informed about current trends and studies in the field of genetic epilepsies.
Epilepsy Precision Medicine
The Helbig Lab does more than research genetic epilepsies. By connecting clinical care directly to their research, not only can they discover causes of genetic epilepsy, but they can help develop new gene-specific treatments.
Epilepsy Family Studies
The Helbig lab is discovering how epilepsy runs in families. Before the exome era, most epilepsy genes were discovered through family studies. However, the art of family studies in the epilepsies has largely been forgotten. The lab is involved in large-scale projects for gene discovery in family epilepsies, and it leads a major project connecting researchers from Germany, Israel, and Palestine.
The FENICS Project
The Helbig Lab is studying the harmonization of functional data in the epilepsies. There is a standardized language for genetics and increasingly for clinical features, but what about the functional results in genetic epilepsies? Electrophysiological studies are increasingly performed at scale, and we are developing controlled dictionaries as part of the lab's involvement in the Epilepsy Center Without Walls (CWOW) for epilepsy-related ion channel disorders.
ClinGen Gene Curation
Members of the Helbig Lab are leaders in the Epilepsy Clinical Domain Working Group of the NIH-funded ClinGen consortium, and their role is to evaluate whether suggested genetic causes for the epilepsies are valid. Make no mistake, in their role as the guardian of the epilepsy genes, experts have already sent several alleged epilepsy genes into early retirement. Epilepsy gene curation is a critical link between the epilepsy sphere and the concepts and frameworks used in laboratory medicine.