Rasopathies


Defects or mutations in the RAS-MAPK pathway lead to uncontrolled growth. Nearly 30% of all human cancers have mutations in this pathway. Inhibitors of B-Raf and MEK kinase are approved for the treatment of various cancers. In addition, mutations in genes in this pathway lead to a group of rare genetic conditions called RASopathies. Abnormalities in this pathway have profound effects on development and can cause several different syndromes, examples of which are Cardio-Facio-Cutaneous (CFC), Costello (CS), Legius (LS), Neurofibromatosis type 1 (NF1), Noonan (NS), and Noonan with Multiple Lentigines (NSML, formerly called LEOPARD syndrome). AlloMek is initially targeting Neurofibromatosis type 1 (NF1) and Noonan syndrome.