How does your donation help?

Our Network’s short-term goals are to improve symptoms associated with CAMK2 disorders by repurposing known medications and to educate the medical community about how to care for affected children and adults. In the long term, we hope our work will lead to gene therapies to cure the condition.

Our outreach to build patient community takes time and resources. Your donation will help to:

• Fund our efforts to continue educating patients and families about CAMK2 mutations.
• Provide them with up-to-date research information and referrals.
• Provide emotional support by sharing challenges and successes.
• Enable in-person family participation at the international conference so affected individuals can meet experts in the field and meet each other to grow the community.

Our research collaborations aim to develop patient-specific neuronal cell cultures from stem cells in a patient’s blood. These stem cells provide a way to safely study how each patient’s mutation alters CAMKII activity and to test medications that may effectively treat symptoms in affected individuals. Your donation will help to:

• Accelerate the development of a Biobank, a collated collection of blood samples from affected individuals and their parents. The samples will be used to make tissue culture that can measure how a mutation alters CAMKII function and which medications may normalize CAMKII function. These in-vitro laboratory studies are precursors to clinical trials.
• Expand research partnerships throughout the globe to gain greater insight into the role of CAMK2 in neurodevelopment.
• Document all known cases of CAMK2 variants globally. Future funding depends on maintaining a confidential patient registry that provides the scope of the disorder. The Erasmus Medical Center in the Netherlands has launched a CAMK2 Natural History study whose data will be available to patients and researchers, and will monitor how the disorder affects patients over their lifetime.

Our clinical collaborations include educating the medical community about CAMK2 disorders and providing families with referrals to knowledgeable physicians. We are building an international network of developmental pediatricians, pediatric neurologists, child psychiatrists and cardiologists who are experienced in taking care of our children and their complex conditions. Your donation will help to:

• Educate physicians internationally.
• Host a yearly international conference to facilitate collaboration of medical and scientific professionals.

Participants at the first CAMK2 international conference held in the Netherlands, 2019