KCNQ2 Cure Alliance Receives $250,000 Commitment to Fund Vital Research for This Rare Form of Epileptic Encephalopathy
Denver, CO, March 13, 2016 --(PR.com)-- KCNQ2 Cure Alliance is pleased to announce that it has received a $250,000 commitment from the Anthony Gleason Family Foundation to fund vital research into treatments or a cure for KCNQ2 epileptic encephalopathy. This donation will significantly advance the ongoing research and education efforts of the KCNQ2 Cure Alliance.
“We are tremendously grateful to the Tony for his generous support for our efforts to help patients throughout the world affected by KCNQ2 encephalopathy,” said Jim Johnson, President of KCNQ2 Cure Alliance. “There is no cure for KCNQ2 patients’ seizures, intellectual disabilities and motor difficulties, but my hope is that this donation will accelerate programs aimed at finding new and better treatments.”
“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. I'd like to express my sincere thanks to the KCNQ2 Cure Foundation and the Jack Pribaz Foundation for all their outstanding work that has already been accomplished.”
The KCNQ2 Cure Alliance has already made progress in advancing research and education to help patients with this disorder. For the past two years, the foundation has brought together leading experts in neurology and precision medicine with parents and patients at the annual KCNQ2 Cure Family & Medical Summit. The Alliance has organized the global patient community with an active social media network providing information and support for caregivers. It has leveraged grants and corporate support to generate cell lines and mouse models of KCNQ2, which can be broadly accessed by those advancing research or developing treatments.
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.
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. KCNQ2 epileptic encephalopathy is a disease of seizures and significant developmental delay.
Approximately 200 people worldwide have been diagnosed with KCNQ2 epileptic encephalopathy. It is believed that many more people are affected by this rare genetic mutation, but have not yet been diagnosed due to its relatively recent discovery and availability of testing. Depending on the precise nature of the mutation, patients have a broad range of motor and cognitive disabilities, in addition to seizures, and are unable to function independently.
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.
Contact:
KCNQ2 Cure Alliance
info@kcnq2cure.org
303-887-9532
“We are tremendously grateful to the Tony for his generous support for our efforts to help patients throughout the world affected by KCNQ2 encephalopathy,” said Jim Johnson, President of KCNQ2 Cure Alliance. “There is no cure for KCNQ2 patients’ seizures, intellectual disabilities and motor difficulties, but my hope is that this donation will accelerate programs aimed at finding new and better treatments.”
“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. I'd like to express my sincere thanks to the KCNQ2 Cure Foundation and the Jack Pribaz Foundation for all their outstanding work that has already been accomplished.”
The KCNQ2 Cure Alliance has already made progress in advancing research and education to help patients with this disorder. For the past two years, the foundation has brought together leading experts in neurology and precision medicine with parents and patients at the annual KCNQ2 Cure Family & Medical Summit. The Alliance has organized the global patient community with an active social media network providing information and support for caregivers. It has leveraged grants and corporate support to generate cell lines and mouse models of KCNQ2, which can be broadly accessed by those advancing research or developing treatments.
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.
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. KCNQ2 epileptic encephalopathy is a disease of seizures and significant developmental delay.
Approximately 200 people worldwide have been diagnosed with KCNQ2 epileptic encephalopathy. It is believed that many more people are affected by this rare genetic mutation, but have not yet been diagnosed due to its relatively recent discovery and availability of testing. Depending on the precise nature of the mutation, patients have a broad range of motor and cognitive disabilities, in addition to seizures, and are unable to function independently.
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.
Contact:
KCNQ2 Cure Alliance
info@kcnq2cure.org
303-887-9532
Contact
KCNQ2 Cure Alliance
Scotty Sims
303-887-9532
www.KCNQ2cure.org
Scotty Sims
303-887-9532
www.KCNQ2cure.org
Contact
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