"On behalf of my granddaughter Lucy and all of the families affected by KCNQ2, it is my goal to raise awareness, and to assist researchers continue their crucial work to find treatments, and ultimately a cure, for this devastating disorder," said Tony Gleason "I'm inspired to be working with such passionate families and their outstanding organizations.
The KCNQ2 Cure Alliance has already made progress in advancing research and education to help patients with this disorder.
With the additional resources now available, the KCNQ2 Cure Alliance intends to fund leading scientists, promote KCNQ2 Cure Awareness Week, beginning March 6, and support the annual Summit planned for Washington DC in October 2016.
Moreover, it has been proposed that a part of lithium efficacy could be due to the block of the GSK3-related phosphorylation of the potassium channel KCNQ2
These diseases include KCNQ2
neonatal epileptic encephalopathy, which is caused by mutations in the KCNQ2
gene and loss of function in nerve-cell potassium channels.
KCNQ2 is a rare form of epilepsy that can cause an intellectual disability and autism.
Scotty and husband Jim Johnson launched the KCNQ2 Cure Alliance Foundation with Caroline Loewy, a Silicon Valley bio-medical executive and Sara James, an Emmy award-winning television reporter who now lives in Australia.
"In the quest for precision medicine, families have moved from the sidelines to the front lines," says Jim Johnson, President of the KCNQ2 Cure Alliance Foundation.
- US-based genetic evaluations company Pairnomix, LLC, with KCNQ2 Cure Alliance, has presented findings from a new case study for a patient with KCNQ2 epilepsy at the 71st annual meeting of the American Epilepsy Society in Washington, DC, December 1-5, 2017, the company said.
Using comprehensive drug repurposing screening, the company identified on-market compounds that mitigated the functional deficit conferred by a specific gain-of-function KCNQ2 mutation.
- 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.