OUR STORY
CAMK2 — short for calcium/calmodulin-dependent protein kinase II — is a group of four related proteins that are highly active in the brain and help control normal electrical signaling between nerve cells. The CAMK2 proteins themselves have been known to science for many years, but it wasn’t until 2017 that researchers (Kury, van Woerden, and colleagues) first discovered that mutations in the CAMK2A and CAMK2B genes can cause a neurodevelopmental disorder. Their discovery finally gave a name and cause to the developmental delays, seizures, and behavioral challenges families like ours had been seeing in our children.
Before 2017, the technology needed to pinpoint a single gene mutation in CAMK2 and link it to a medical condition simply didn’t exist. Many parents — including the founders of CAMK2 Therapeutics Network — spent years searching for answers without a diagnosis.
Today, around 350 children, teens, and adults worldwide have been identified with CAMK2-related genetic mutations, though the true number is almost certainly much higher. As exome and genome sequencing become more common, and as CAMK2 mutations become more widely recognized, we expect hundreds or even thousands more individuals of all ages to receive a diagnosis. Because CAMK2 mutations typically occur at random, this condition should appear equally across all ethnicities and regions.
Three of our own children were among the first 16 individuals identified in the 2017 discovery paper. Even before that publication, two parents had created the first CAMK2 family Facebook group, which quickly connected families around the world and eventually led to a partnership with the ENCORE team in Rotterdam. In 2019, the parent group and the CAMK2 ENCORE Center of Expertise organized the first global CAMK2 family gathering in the Netherlands.
Since 2019, the CAMK2 Therapeutics Network has been formally affiliated with the ENCORE CAMK2 Center of Expertise at Erasmus Medical Center in Rotterdam. ENCORE is internationally known for its work in neurodevelopmental conditions, including Angelman syndrome, and is ideally positioned to advance CAMK2 research and care.
OUR GOALS
CAMK2 Therapeutics Network has three goals:
1) Educating families, clinicians, and scientists
2) Expanding access to diagnosis, research, and expert care
3) Accelerating treatments through strategic partnerships.
We work closely with our Scientific Advisory Board and Scientific Partners, including the ENCORE CAMK2 research team. Our advisory group includes leading experts in the field — even the scientist often referred to as the “Father of CaMKII.” Many members have decades of CAMK2 research experience and deep international connections.
We are committed to supporting and connecting families by providing practical information, medical resources, scientific updates, and a community where stories can be shared. We also aim to expand global visibility so we can sustain and grow our work.
