RASopathies
What are the RASopathies?
Much of Dr. Pierpont's research focuses on a group of genetically related genetic syndromes known as the "Rasopathies." These genetic syndromes are all caused by gene mutations affecting the RAS-MAPK pathway, which is a cellular signaling pathway important for a variety of developmental processes. The Rasopathies include Noonan syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, neurofibromatosis type 1 (NF1) and more. A key journal article describing the genetics of the RAS-MAPK and the syndromes that result from mutations in this pathway can be found here.
All Rasopathy syndromes affect multiple systems of the body. Among the Rasopathies, features such as cardiac disease, growth deficits, facial characteristics, bone and skin abnormalities, and learning and behavior problems are common. However, there is incredible variation in the ways that individuals with Rasopathies develop. Some individuals experience life-altering neurological effects of their syndrome that impact almost every aspect of their daily lives. Other individuals with Rasopathies have such a mild form that their syndrome may not be detected until adulthood! Researchers are just beginning to learn how the specific molecular genetic characteristics of these syndromes interact with environmental variables to affect development and functioning of the body and brain. These are just some of the many reasons that the Rasopathies are exciting to study!