NIH R01 · 2024
Mosaic: post-zygotic mutations in vascular malformations
PROJECT SUMMARY Defective morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations, a relatively common congenital malformation. Current therapies are primarily invasive and can produce significant morbidity. Most vascular malformations are due to post-zygotic (mosaic) activating mutations in a few oncogenes (PIK3CA, KRAS, MAP2K1, others) in the PI3K-AKT and RAS-MAPK pathways. These mutations are never present in DNA derived from white blood cells, the most common sample for genetic testing, making molecular diagnosis challenging. Long-term, our goal is to improve treatment of individuals with vascular malformations. The proposed experiments…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.