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In 1999, the first of three genes that can cause the familial, or inherited, form of CCM, was discovered after just four years of research. It is the most well-known form of familial CCM and is termed CCM1. CCM is caused by a mutation in the KRIT1 gene on chromosome 7. Researchers believe that by identifying all three causative genes, and by understanding the kind of mutations they produce, there will be entirely new ways of treating this disorder. Additionally, early detection through DNA testing will provide a greater chance for survival.
Other researchers are looking for ways to block the blood supply to the CCM, and to help shrink or dissolve the existing lesion completely. Angiogenesis is the theory that tumors grow by recruiting their own blood vessels. This theory may be the link in treating many types of cancers and diseases, including CCM. Scientists hope that a drug will one day be available that will successfully cut off the blood supply to the lesion and cause it to die.
Neurosurgeons are also conducting research on using less invasive ways to remove lesions associated with CCM, rather than through traditional brain surgery. Some neurosurgeons believe that radiation and lasers will revolutionize brain surgery. This non-invasive approach could leave patients with fewer side effects and deficits.
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