Today families of children with KCNQ2, together with leading scientists, launched the KCNQ2 Cure Alliance Foundation. The organization will educate and inform families and support research into treatments or a cure for patients living with this severe genetic form of epilepsy.
KCNQ2 encephalopathy, which only recently has been characterized, is a disease of seizures and significant developmental delays caused by a rare mutation in the KCNQ2 gene. Children with KCNQ2 encephalopathy have a broad range of motor and cognitive disabilities, in addition to seizures, and most are unable to function independently.
“KCNQ2 is a recently-discovered and rare form of epileptic encephalopathy diagnosed in fewer than 200 patients to date. Improved awareness, identification of patients, and increased support for research are important factors in our efforts to improve treatments and outcomes for patients affected by KCNQ2 encephalopathy,” said Dr. Sarah Weckhuysen, MD, PhD of the Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Belgium.
The KCNQ2 Cure Alliance plans to advance research in two ways: first by raising awareness and identifying and connecting all patients throughout the world affected by KCNQ2 encephalopathy; and second, by raising funds to accelerate research at prominent institutions worldwide.
We seek to raise awareness of KCNQ2 mutations in order to facilitate diagnosis and treatment efforts. As part of our focus to raise awareness, we have designated the first week in March 2015 as KCNQ2 Awareness Week. Our registry will allow data on patients worldwide to be included on a single platform accessible to all experts internationally.
The foundation will hold the second annual KCNQ2 Cure Alliance Summit in September 2015 in Denver, Colorado. The summit provides support, information, and networking opportunities for families. It also gives leading scientists the opportunity to share research, collaborate with peers and meet patients and their families.
“Research is already underway at several top-tier medical centers, but because KCNQ2 encephalopathy is so rare and only recently characterized, the field is severely underfunded. Multi- year research funding aimed at advancing multiple treatment approaches is needed to identify treatments to benefit our children in their lifetimes,” said James Johnson, President of the foundation.
The KCNQ2 Cure Alliance Foundation has assembled an initial board of directors that includes Sara James, Emmy Award-winning correspondent and author; James Johnson, digital media and software executive and entrepreneur; Caroline Loewy, biotechnology industry executive and rare disease advocate, and Scotty Sims, crisis therapist for patients with severe and persistent mental illness.
Our initial scientific advisory board includes thought leaders in neurology and genetic disorders: Dr. Edward Cooper, MD, PhD, is a laboratory physiologist and clinical neurologist with a research focus on the brain’s action potential as it relates to disorders like KCNQ2 and is Associate Professor of Neurology and Neuroscience at Baylor College of Medicine; Dr. David Goldstein, PhD, is an expert in medical genetics and Director of the Center for Human Genome Variation and The Richard and Pat Johnson Distinguished University Professor at the Duke University School of Medicine; Dr. Ingrid Scheffer, MD, is a leading expert in pediatric epilepsy and Professor of Neurology at the University of Melbourne and Florey Institute of Neuroscience and Mental Health; and Dr. Sarah Weckhuysen, MD, PhD, is the lead author on the first publication characterizing the KCNQ2 genetic mutation and neurologist in the Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Belgium.