CAMK2-related neurodevelopmental disorders are a recently identified group of conditions caused by mutations in CAMK2 genes, which produce proteins essential for calcium signaling in the brain. These mutations can impair synaptic plasticity, learning, and memory, leading to a range of issues such as developmental delays, seizures, motor difficulties, behavioral challenges, and neuropsychiatric symptoms. So far, about 300 individuals have been diagnosed with these mutations, but this number is expected to grow with broader use of genetic testing. Currently,  care focuses on managing symptoms rather than addressing the underlying cause.  

SPARC is conducting a comprehensive research and clinical practice review exploring the symptoms, biology, and clinical care of CAMK2-related disorders. The landscaping effort will result in a public report that distributes knowledge about these complex and rare disorders and identifies targeted opportunities for philanthropy to improve the lives of patients and their families.