RASOPATHIES

Defects or mutations in RAS-MAPK pathway leads to uncontrolled growth. This is evident from the fact that nearly 30% all human cancers have mutations in this pathway. Inhibitors of B-Raf and MEK kinase are approved drugs for treatment of various cancers. Besides cancer, mutations in genes in this pathway lead to a group of rare genetic conditions called RASopathies. Besides various cancers, abnormalities in this pathway have profound effect on development and can cause several different syndromes, Some examples 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). Among these diseases AlloMek is targeting Neurofibromatosis type 1 (NF1) and Noonan syndrome.