Children with cavernous malformations face unique treatment challenges due to factors such as the malformation's location, size, risk of bleeding, and the complexities of pediatric tissue development. To address these issues effectively, advanced diagnostics and precise interventions are essential. This is why Ed Smith, MD, and the team at the Cerebrovascular Surgery and Interventions Center (CSIC) at Boston Children's Hospital are developing comprehensive guidelines for managing these abnormal blood vessel clusters in the brain and spinal cord and participating in global organizations that support research and expanding access to care.
Building on those cornerstones, the center is enhancing the understanding, diagnosis, and treatment of cavernous malformations through its own pioneering research. "Through more comprehensive understanding," says Smith, "we can dramatically improve care through targeted genetic testing and personalized care strategies, which will ultimately lead to better patient outcomes ." The research is published in the New England Journal of Medicine .
New insight into pathology Smith and the CSIC team's latest research focuses on understanding the genetic and pathological foundations of cerebral cavernous malformations (CCMs). Their work investigates specific pathological features, such as defective tight junctions and a lack of smooth muscle, and genetic markers such as mutations in CCM1, CCM2, or CCM3 for familial cases, and the "two-hit" mechanism of .