A new study has been initiated by a digital health company in the United Kingdom called Congenica Ltd. This study focuses on re-annotating genes that may be associated with epileptic encephalopathies, which are neurodevelopmental disorders. People with one of the disorders within this rare and severe group of conditions often go without a molecular diagnosis. Even the most in-depth studies focused on sequencing cannot find the genes that cause them. Researchers have been examining the SCN1A gene, which holds “poison exons” that could result in these disorders. They have also been examining many other epilepsy-related genes. They hope that their research will lead to better diagnoses of these conditions, along with better treatment.
Congenica is re-annotating genes that are associated with epileptic encephalopathies and have significant clinical implications. For a long time, the causes of many of these neurodevelopmental disorders were unknown. Recently many genes associated with these conditions have been discovered, and research of these genes has indicated that as many as 40% of early-onset epileptic encephalopathy patients have a pathogenic variant that disrupts many of the brain’s pathways. But it was not until Congenica’s work that the cause of brain dysfunction for the other 60% of people with these disorders was understood.
This research, with Dr. Charles Steward as the lead, uses genetic annotation to improve the diagnosis process and patient outcomes. His team has found that the brain dysfunction and seizures that characterize many of these disorders may be caused by low levels of critical proteins in the central nervous system, which may be a result of disrupted poison exons. Along with this information, Steward and his team have annotated exons in other genes that relate to epilepsy, such as SCN2A, SCN8A, and CDKL5.
The data from the study can be found within Congenica’s clinical decision support platform. This platform helps clinicians find mutations that are the result of poison exons in epilepsy-associated genes. These exons are also included in Congenica’s exome capture kit called ExomeCG. Both of these new developments are meant to help healthcare professionals successfully diagnose patients.
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