Milken Institute Science Philanthropy Accelerator for Research and Collaboration: Statement on the CAMK2 Research and Care Program

The Milken Institute Science Philanthropy Accelerator for Research and Collaboration (SPARC) applauds the recent launch of the CAMK2 Research and Care Program (CRCP) within the Mass General Brigham Neuroscience Institute. The program is supported by a philanthropic co-investment over two years from SPARC’s partners Dina J. and Martin S. Friedman, together with the CAMK2 Therapeutics Network. 

CRCP is the first program in the United States dedicated to the research and clinical care of individuals living with CAMK2-related neurodevelopmental disorders, a group of rare diseases caused by mutations in CAMK2 genes. An individual living with a CAMK2-related disorder may experience a range of symptoms beginning in infancy or early childhood, including developmental delays, seizures, motor impairments, feeding difficulties, cardiac involvement, emotional dysregulation, and behavioral challenges. The type and severity of symptoms can vary widely depending on the underlying genetic variant. At present, there are no approved drugs to treat these disorders. As a result, parents and other caregivers are often required to provide round-the-clock care that includes symptom management and support with daily activities.  

Through an ongoing partnership with the Friedman family, SPARC conducted an analysis of the scientific and funding landscape underpinning research and care for CAMK2-related disorders. Published in CAMK2-Related Neurodevelopmental Disorders: A Giving Smarter Guide, SPARC’s findings indicated that building a focused clinical program in the US would be one of the most impactful uses of philanthropic capital in the CAMK2 field. Now a reality, the CRCP joins an established counterpart, the ENCORE CAMK2 Center of Excellence at Erasmus Medical Center in Rotterdam, Netherlands, to create a coordinated transatlantic effort dedicated to the disorder. Together, the two centers will serve as connected hubs of expertise, enabling clinicians to build the critical patient volume needed to better understand developmental trajectories and clinical variability across this rare disease population.  

By delivering care through integrated, multidisciplinary teams, the centers will improve coordination of specialist care and support the systematic collection of clinical data to advance research and therapeutic development. The US center will expand access to specialized care in North America and bring greater scale to patient care and research, fostering a more complete understanding of how CAMK2-related disorders may affect individuals. This coordinated model is expected to accelerate the development of new therapies and improve standards of care for patients and families living with CAMK2-related disorders.