Philadelphia, May 16, 2019 - A team of researchers at Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) discovered a new gene associated with severe childhood epilepsy using a novel computational approach.
The team systematically compared phenotypes, or clinical data, of patients with severe childhood epilepsies through a novel analysis strategy and looked for common genetic causes in patients who had similar clinical presentations.
This is the first time that such an analysis of clinical data has been used to identify novel genetic causes of neurological disorders, and this new computational method has the potential to help patients with a variety of complex and difficult-to-diagnose conditions.
"Genetic data are incredibly valuable, but when we do whole exome sequencing, this is really only half of the story," said Ingo Helbig, MD, a pediatric neurologist in the Division of Neurology at CHOP who directs the Genomics and Datascience Core of the CHOP Epilepsy Neurogenetics Initiative.
These disorders can cause aggressive seizures, cognitive and neurological deficits and, in some cases, early death.
While new gene sequencing technologies can generate genomic data more thoroughly and quickly, clinical data must be entered by hand, which results in a "phenotypic bottleneck" where clinical data cannot be processed at the same level as genetic data.