Pairnomix today announced that CEO Matthew Fox will present at KCNQ2 Cure’s 2017 Family and Professional Summit, October 22-24, 2016 in Boston, MA. This three-day event is designed to unite all groups committed to improving the lives of those with KCNQ2 Epilepsy.
About the Presentation
Fox will deliver a talk entitled Personalized Genetic Evaluations for KCNQ2 Mutations, on Tuesday, October 24th at the Boston Marriott Peabody.
“We value our partnership with the KCNQ2 Cure Alliance and look forward to presenting data from our first case study together,” said Matthew Fox, CEO, Pairnomix. “We are eager to share our learnings on a mutation that affects multiple members of the KCNQ2 community.”
Pairnomix’s KCNQ2 Research
Pairnomix offers personalized genetic evaluations that provide physicians with data on a patient’s rare genetic mutation and on potential treatment options that are available today.
Pairnomix and the KCNQ2 Cure Alliance first entered into a collaboration to explore a genetic mutation in KCNQ2 epileptic encephalopathy in 2015 and recently renewed their partnership with a second case study together. They will be presenting data from their first project investigating a gain-of-function mutation. It is estimated that 500 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 been diagnosed due to its relatively recent discovery and availability of genetic testing.
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.
Pairnomix™, a personalized genetic evaluations company, is committed to helping people living with rare diseases understand the genetic cause of their condition and explore potential treatment options that are available today. 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.
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.
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PLYMOUTH, Minn., October 23, 2017 /PRNewswire/