Findings Presented at the 70th Annual Meeting of the American Epilepsy Society
HOUSTON, Dec. 3, 2016 /PRNewswire/ — Pairnomix, LLC, a genetic research company and member of the Patient-Empowered Precision Medicine Alliance (PEPMA) recognized by the White House, today announced that findings from its first case study of an individualized approach to the identification of candidate therapies for a patient with epileptic encephalopathy caused by a mutation in the SCN8A gene were presented at the 70th Annual Meeting of the American Epilepsy Society in Houston, TX, December 2-6, 2016.
Pairnomix’ unique process involves creating a model of a patient’s genetic mutation, learning about the functional consequences of that mutation, and testing approved drugs against the model to identify potential new treatment options. Findings are provided to the patient’s physician so together they can make better-informed healthcare decisions.
“We are very pleased to share these findings with the epilepsy community, and are gratified to be able to illustrate that it is possible to take a comprehensive approach to exploring opportunities for potentially repurposing approved drugs in the treatment of severe genetic epilepsies,” said David Goldstein, PhD, Founding Scientist.
Pairnomix is working on additional cases and is proud of its ongoing collaboration with the KCNQ2 Cure Alliance to bring its highly personalized genetic evaluations to physicians for individuals living with KCNQ2 epileptic encephalopathy.
What is SCN8A?
SCN8A is a gene encoding the alpha-8 subunit of the Nav1.6 sodium channel. For more information, please reach out to the Cute Syndrome Foundation.
About the Case Study
The individual was diagnosed with early infantile epileptic encephalopathy combined with global developmental delay and experienced lack of seizure control even after being prescribed many common anti-epileptic drugs (AEDs). The patient’s physician ordered next-generation sequencing services, and a de novo mutation in the SCN8A gene was identified.
High throughput screening with more than 1,300 approved drugs identified 90 which significantly inhibited the gain-of-function phenotype conferred by the patient’s mutation. These drugs may be potential therapeutic options for physicians to consider when evaluating patients with this specific mutation.
Pairnomix™, a genetic research company, is committed to helping people living with rare diseases understand the genetic cause of their condition. Pairnomix’ initial focus is to provide personalized research for people living with epilepsy and other disorders of the Central Nervous System. To learn more, please visit www.pairnomix.com.