The Helbig lab wants to understand how to better identify and treat childhood brain disorders. Gene discovery has already transformed the way we understand rare neurological disorders in children. However, while genetic studies can be performed at scale, the analysis of clinical data often needs to be performed manually. The lab's goal is to expand the data science approaches established for analyzing genomic data and clinical information so that they can leverage large-scale data to better understand natural histories and treatment responses.
Links of Interest
- Discovery of several new genes related to childhood epilepsies
- Ongoing exploration of phenotypic data to improve precision medicine, including new ways to observe phenotypic traits such as “phenograms” and “phenotrees”
- Development of controlled dictionaries for functional genetic epilepsy results, standardizing results for large-scale studies
- Epilepsy gene curation, leading to more accurate and precise genetic research