KCNQ2 Cure Alliance today announced that it has entered into a collaboration with Pairnomix, a new genetic research company, to further explore genetic mutations in KCNQ2 epileptic encephalopathy with the goal of identifying more effective and more accurately targeted therapies.
The Pairnomix, KCNQ2 CURE Collaboration
Approximately 200 people worldwide have been diagnosed with KCNQ2 epileptic encephalopathy. However, many more are believed to be affected by this rare genetic mutation, but have not yet been diagnosed due to its relatively recent discovery and availability of testing.
“KCNQ2 epileptic encephalopathy causes seizures, intellectual disabilities, and significant motor delays. There is no cure, but research could help find new and better treatments,” said Jim Johnson, President of KCNQ2 Cure Alliance. “Our hope is that our collaboration with Pairnomix will deliver the most cutting-edge, highly-personalized genetic evaluations possible to our community of people affected by KCNQ2.”
“We are excited about our collaboration with the KCNQ2 Cure Alliance,” said Matthew Fox, CEO, Pairnomix. “We are proud to partner with an organization that has taken an active role in advancing research that may lead to improved treatments or a cure for patients in their community.”
About KCNQ2 Epileptic Encephalopathy
KCNQ2 epileptic encephalopathies are caused by mutations in the KCNQ2 gene (also known as the potassium voltage-gated channel, KQT-like subfamily, member 2 gene). KCNQ2 belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell’s ability to generate and transmit electrical signals. Channels made with the KCNQ2 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells.
The Pairnomix Process
Pairnomix’ high-touch process starts with a review of an individual’s pre-sequenced genetic makeup by its scientific leadership. The purpose of this analysis is to determine if the identified genetic variants are appropriate for additional research. The next step is to perform a comprehensive characterization of the effects of these genetic variants on normal molecular functioning, utilizing laboratory-based models. Finally, testing of various pharmaceutical compounds against these models is conducted. A highly customized final report is then provided to the patient’s physician.
Pairnomix™, a genetic research company, is committed to helping people living with rare diseases understand the genetic roots of their condition. Pairnomix’ initial focus is on advancing personalized research for people living with epilepsy and other disorders of the Central Nervous System. To learn more, please visit www.pairnomix.com.
About KCNQ2 Cure Alliance
The KCNQ2 Cure Alliance strives to educate and to advance research leading to treatments or a cure for patients living with the genetic disorder KCNQ2. The Alliance supports efforts to raise awareness and improve diagnosis of KCNQ2, educate families and medical professionals about the disease, and advance research leading to improved treatments. Please visit www.kcnq2cure.org to learn more about KCNQ2 and how you can get involved with the KCNQ2 Cure Alliance Foundation.
DENVER, December 7, 2015 /PRNewswire/