Awareness Week: March 1-7, 2015
Second Annual Summit to be held October 15-16, 2015 in Denver
In honor of the first international KCNQ2 Awareness Week, people all over the world will be spreading awareness of the disease and encouraging people to support the mission to educate and advance research leading to treatments or a cure for people living with KCNQ2.
Approximately 140 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 the availability of testing.
“KCNQ2-related epilepsy is a very new disease—so new that most at-risk children haven’t even been tested yet. Increasing awareness, and identifying more patients, are critical next steps that will immediately help make us better, faster diagnoses. Those steps will also enable the research needed for introducing effective treatment,” said Dr. Edward Cooper, MD, PhD, Associate Professor of Neurology, Genetics, and Neuroscience, Baylor College of Medicine.
The KCNQ2 gene codes for the potassium channels that are critical in brain’s transmission of signals throughout the body. Thus, the KCNQ2 mutation causes a range of symptoms, including profound intellectual and/or physical disability, and is characterized by seizures beginning in early infancy.
“Genomics is creating new opportunities to better understand the biology of disease and to provide more effective and more accurately targeted therapies. Capitalizing on these opportunities requires close collaborations among researchers, the clinical community, and patients and their families,” said Dr. David Goldstein, PhD, Professor of Genetics and Development and Director of the Institute of Genomic Medicine, Columbia University.
To help raise awareness and funds for KCNQ2, the global KCNQ2 community will participate in several live and virtual events and social media campaigns. Families kicked off the week leading their states’ rare disease day activities on February 28. The KCNQ2 Cure Alliance is sponsoring the Cruise for a Cure, virtual run/walk in which anyone, anywhere can participate to show their support for KCNQ2 patients (https://www.kcnq2cure.org/event/cruise-for-a-cure-virtual- runwalk/). Numerous events are planned locally to bring the community together in celebration of KCNQ2 Awareness Week.
Second Annual KCNQ2 Cure Summit to be held October 15-16, 2015
KCNQ2 Cure Alliance also announced that their second annual patient and research summit will be held in Denver, October 15th and 16th. Families, along with leading researchers, including Peter De Jonghe, MD, PhD, Edward Cooper, MD, PhD, David Goldstein, PhD, and Sarah Weckhuysen, MD, PhD, will gather to discuss emerging research and potential advancements in treatment options.
About KCNQ2 Epileptic Encephalopathy:
KCNQ2 epileptic encephalopathy is caused by a mutation 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.
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.