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Research
Building Momentum: Insights from the KCNQ2 Research Roundtable
At this year’s KCNQ2 Cure Alliance Family and Professional Summit, Drs. Brooke Babineau and Alfred George brought together leaders from the scientific, clinical, and patient advocacy communities for a Research Roundtable. The goal was to shed light on emerging discoveries in KCNQ2-related disorders while underscoring the ongoing challenges in identifying effective treatments. We left the…
The Power of a CRID for Every KCNQ2 Family
Living with KCNQ2-related disorders means navigating a world of challenges-seizures, developmental hurdles, motor difficulties, behavioral complexities, and more. For those of us in the KCNQ2 community, the urgency for better treatments and brighter futures is personal. We want answers, and we want them now. But one major roadblock is that our community’s vital health data…
Connecting Science and Community: Dr. Brooke Babineau Charts KCA’s Research Path as New Scientific Director
Hi! I’m Brooke Babineau, the new Scientific Director for the KCNQ2 Cure Alliance (KCA). I’m honored to join this devoted community and support a mission that empowers families through education, meaningful connections, and advances in innovative research focused on the development of new treatments—and ultimately, cures —for people affected by KCNQ2-related disorders. A bit about…
Reflections from the Rare As One Meeting
Reflections from the Rare As One Meeting: A Joint Message from Our Executive and Scientific Directors We recently returned from an invigorating three-day convening of the Chan Zuckerberg Initiative’s Rare As One (RAO) Network in the Nevada desert. This gathering brought together foundation leaders, scientists, and strategic partners who all share a mission to accelerate…
2025 KCNQ2 Roadshow Coming to a City Near You?
2025 KCNQ2 Roadshow: Join the Movement to Advance Research in Your City CLICK TO PARTICIPATE 🚐 KCNQ2 Cure Is Coming to You in 2025 We invite individuals with a confirmed KCNQ2 diagnosis to participate in our KCA Biobank. This is your chance to drive real progress in rare disease research…close to home. In 2025, the KCNQ2…
Observer Reported Toileting Abilities Survey (ORTAS)
As part of our partnership with CombinedBrain, we are sharing a pilot study with our community. We are conducting a pilot study for our ORTAS toileting survey! What: A 30-minute online survey consisting of questions about a person’s diagnosis, symptoms, treatments, and ability to toilet independently, or not. Any level of ability is welcome to…
KCNQ2-Related Epilepsy ICD-10 Codes Approved!
What is an ICD-10 Code? Developed by the World Health Organization (WHO), this is the tenth version of the International Classification of Diseases (ICD), known as ICD-10. It is a system used worldwide by doctors, hospitals, insurance companies, and health organizations to classify and code all diagnoses, symptoms, and procedures. Each code is unique and…
All that Jazz: Success of the 2024 New Horizons in Science Dinner
A night of jazz and jubilation in Melbourne at the fifth KCNQ2 Cure New Horizons in Science Dinner on April 11th. Volunteers decked out in New Orleans masks transformed host venue ANZ Bank into a “Big Easy” nightclub and welcomed guests with Mardi Gras beads, signature cocktails, and champagne. Jamming at the keyboard was the…
How my daughter’s medical history is a Tool Towards a CURE
My daughter Ella was only a month old when the neurologist at the third hospital she was sent to that month said, “Just go home and love her. We don’t know what to do until genetic testing comes back.” At this time she was having around 7 seizures every hour and no medication we had…
KCNQ2 Cure and Invitae/Ciitizen partner on new observational study
The KCNQ2 Cure Alliance is excited to announce that we have partnered with Invitae Ciitizen to develop an Observational Study for patients affected by KCNQ2-DEE. Invitae Ciitizen has developed an innovative process to collect vital patient data that has already benefitted numerous rare disease and cancer communities. The Invitae Ciitizen platform allows data access for…