Families Lead Quest for Precision Medicine to Treat Rare Genetic Disorder

DENVER - Oct. 12, 2015 - PRLog -- The summit enables KCNQ2 families to connect and to meet top medical researchers.  In addition to doctors from Children’s Hospital Colorado, leading experts include Dr David Goldstein, director of the Institute for Genomic Medicine at Columbia University; Dr Edward Cooper of Baylor College of Medicine in Houston; and Dr Sarah Weckhuysen of L’Institut du Cerveau et de la Moelle Epiniere in Paris.

KCNQ2 is a rare form of epilepsy that can cause an intellectual disability and autism. While rapid advances in genomic sequencing now provide a growing number of families with a diagnosis for their child’s rare condition, often there is no treatment or cure.   The efforts of the KCNQ2 Cure Alliance Foundation offer an example of an emerging medical trend  – parents spearheading research into treatments for their children’s rare and complex disorders.

Families from Australia, Scandinavia, and the UK will be in Denver for the summit.  They connected on a Facebook page started by Denver mom Scotty Sims for her daughter, Harper.  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. “We collaborate with world-class medical researchers on everything from creating data bases to raising funds for drug trials. We believe family-driven research has the potential to change modern medicine.

“If we can crack the code of KCNQ2, we change our children’s lives and provide vital clues regarding autism and epilepsy.”

The summit will be held at Doubletree by Hilton, 3203 Quebec Street, Denver.

KCNQ2 Cure Alliance Foundation is an organization committed to educating families and advancing research leading to treatments or a cure for patients living with this severe genetic form of epilepsy

Please visit KCNQ2cure.org to learn more about KCNQ2

Contact: Scotty Sims 303.887.9532; scotty@kcnq2cure.org