Funded Research

Since 2016 the KCNQ2 Cure Alliance has invested over $300,000 in research.

2018

Annapurna Poduri, MD, MPH - currently enrolling
Boston Children's Hospital

KCNQ2 Natural History Study. Natural history studies in patients with KCNQ2-related disease will set the stage for additional investigation into the neurodevelopmental role of KCNQ2 in cellular and animal models. For more information on this study click here.

 

Edward Cooper, MD, Ph.D
Baylor College of Medicine

Early Recognition of Genetic Epilepsy in Neonates: ERGENT is a study being conducted by a multi-institutional research team to learn how to better diagnose babies with seizures very soon after birth, so treatment may be targeted to the specific cause.

Seizures in babies can be the result of a birth injury, but in about 5-10 percent of instances, they are caused by a specific genetic change. Research has allowed doctors to learn features that are common in babies with genetic epilepsy. ERGENT provides comprehensive free-of-charge genetic testing for qualified babies experiencing seizures. 

 

Sarah Weckhuysen, MD, Ph.D
University of Antwerp

In vitro proof of concept study for RNA interference as a treatment for KCNQ2 encephalopathy.

2017

Pairnomix - COMPLETED
Pairnomix

Pairnomix created a laboratory model of a loss of function KCNQ2 genetic mutation and performed experiments to understand the impact of the mutation on cellular function. They then tested 1,300 approved drugs against the modeled mutation to understand their effects on the model.

2016

Edward Cooper, MD, Ph.D - COMPLETED
Baylor College of Medicine

Severe illness related to genetic variants of KCNQ2 was discovered in 2012 in a handful of cases. Recognizing the need to validate and share information, a team of scientists and doctors working with families and supporters of children affected by KCNQ2 and KCNQ3 related illnesses formed the Rational Intervention for KCNQ2/3 Epileptic Encephalopathy Project. The RIKEE project's singular goal is to develop effective therapies for KCNQ2/3 related illness based on scientific understanding of the underlying causes. RIKEE.org

 

Pairnomix - COMPLETED
Pairnomix

Pairnomix created a laboratory model of a gain of function KCNQ2 genetic mutation and performed experiments to understand the impact of the mutation on cellular function. They then tested 1,300 approved drugs against the modeled mutation to understand their effects on the model.