24 October 2017 - - CEO Matthew Fox, of US-based genetic evaluations company Pairnomix, LLC, will present data from a new case study investigating a gain-of-function mutation at the 2017 KCNQ2 Cure Family and Professional Summit, in Boston, MA, the company said.
Pairnomix and the KCNQ2 Cure Alliance first entered into a collaboration to explore a genetic mutation in KCNQ2 epileptic encephalopathy in 2015. They will be presenting data from their first project.
KCNQ2 epileptic encephalopathies are caused by mutations in the KCNQ2 gene (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 that transport positively charged atoms of potassium into and out of cells, 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.
Pairnomix is committed to helping people living with rare diseases understand the genetic cause of their condition and explore currently available potential treatment options. The company's initial focus is on advancing personalized research for people living with epilepsy and other central nervous system disorders.
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.