On the cutting edge of epilepsy research
Epilepsy Gene Discovery
Determining the genetic causes of pediatric epilepsy. Genetic testing is integral to the work we do. This testing allows us 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.
EMR Genomics
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, we are 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.
Telemedicine Analytics
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 our projects investigate the potential differences in treatment that may occur between in-person and telemedicine outpatient appointments.
Human Phenotype Ontology
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. We are involved in the ongoing curation of the Human Phenotypic Ontology (HPO) and we develop methods to make sparse and heterogeneous clinical data comparable. See our blog post on how we try to have algorithms do what Dr. Rett did more than 60 years ago
The Epilepsiome
Beyond the Ion Channel. For the last decade, we have blogged about the genetics of the epilepsies at epilepsygenetics.net, which 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
Where research becomes treatment. At the Helbig Lab, we do more than research genetic epilepsies. By connecting clinical care directly to our research, not only can we discover causes of genetic epilepsy, but we can help develop new gene-specific treatments.
Epilepsy Family Studies
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. We are involved in large-scale projects for gene discovery in family epilepsies and lead a major project connecting researchers from Germany, Israel, and Palestine.
The FENICS project
Harmonization of functional data in the epilepsies. We have 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 our involvement in the Epilepsy Center Without Walls (CWOW) for epilepsy-related ion channel disorders.
ClinGen Gene Curation
The guardians of the epilepsy genes. We are leaders in the Epilepsy Clinical Domain Working Group of the NIH-funded ClinGen consortium and our role is to evaluate whether suggested genetic causes for the epilepsies are valid. Make no mistake, in our role as the guardian of the epilepsy genes, we 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.