The CAMK2 molecule. Courtesy Stratton Lab
Dr. Danielle Veenma M.D., Ph.D., speaking to participants at the first global CAMK2 gathering in the Netherlands, 2019. Dr. Geeske van Woerden, Ph.D., and Caoimhe Ross join her onstage.
OUR STORY
CAMK2 — an abbreviation for calcium/calmodulin dependent protein kinase 2 — is a family of four similar proteins that are abundant in the brain and important for normal electrical signaling. Neurodevelopmental disorders associated with mutations in these proteins were first described in 2017 by Kury and van Woerden et al. Their scientific breakthrough gave a name to the developmental delay, seizures and behavioral abnormalities we had been seeing in our children.
As the parent founders of CAMK2 Therapeutics Network, we had already spent years seeking a diagnosis that would explain our children’s symptoms. Until 2017, the technology to find a mutation in a single CAMK2 gene and correlate it to a disease was not available.
As many as 350 children, youth and adults have been identified as having CAMK2 genetic mutations, but there are likely many, many more affected individuals of all ages.
Three of our children were among the 16 children first identified with the mutation in the Kury and van Woerden paper. The parents of two of the children had created a Facebook page for other families a year before the paper’s publication and then forged the connection with ENCORE in Rotterdam. In 2019, the parent Facebook group and CAMK2 ENCORE in Rotterdam organized the first global CAMK2 gathering in the Netherlands.
Today, as many as 350 children, youth and adults have been identified as having CAMK2 genetic mutations, but there are likely many more affected individuals of all ages. As exome/genome sequencing becomes more prevalent, and the gene mutations are better recognized and understood, the number of people diagnosed with the disorder is expected to increase by the hundreds or thousands. Given that mutations in CAMK2 genes are random, this disorder should be spread evenly across all ethnicities and all regions of the world.
Our family-led research network has been affiliated with the ENCORE CAMK2 Center of Expertise at the Erasmus Medical Center in Rotterdam, Netherlands, since 2018. Already world-renowned for its work with another neurodevelopmental disorder, Angelman syndrome, the ENCORE program is well-situated to tackle CAMK2.
OUR GOALS
Members of our Parent Board have two goals: To better understand CAMK2 genetic mutations and to advocate for continued research into treatments for our children and children like them.
The Parent Board is strengthened by partnerships with our scientific team — our Scientific Advisory Board and Scientific Partners — including the ENCORE CAMK2 team. The “Father of CAMKII” is a member of our Scientific Advisory Board, and others on that board have decades of CAMK2 expertise and extensive professional connections.
We want to continue connecting families, providing them with practical information, medical resources and advances, and a venue for sharing their stories. And we want to increase our international visibility to sustain and promote our work.
We’re now working to expand CAMK2 expertise by creating international satellites in California and Texas, where several of our scientific board members practice medicine.
Short-term: We aim to convene semi-annual meetings, uniting patients, clinicians, and scientists to collect data, promote clinical expertise, and foster essential relationships for future treatment trials.
Long-term: We aspire to co-establish clinical trials with kinase inhibitors and/or gene therapies, organize our community to be a resource for emerging technologies, and establish an internation CAMK2 clinical network for global access to personalized up-to-date care plans.”
Financials
Participants at the first CAMK2 international conference held in the Netherlands, 2019