About the Rasopathies Research Program
Under the direction of Karen W. Gripp, MD, The Rasopathies Research program at Nemours Children’s Hospital, Delaware investigates Costello syndrome and a variety of genetic mutations referred to as rasopathies.
Costello syndrome, a rare genetic condition resulting from germline mutations in the proto-oncogene HRAS, is a multi-organ system disorder entailing a predisposition to malignant tumors. Dr. Gripp has a long standing interest in the clinical manifestations of Costello syndrome, and genotype-phentoype correlation.
Rasopathies: Genetic conditions resulting from mutations in genes encoding proteins of the Ras/MAPK signaling pathway are collectively referred to as rasopathies. These include the relatively common neurofibromatosis type 1 and Noonan syndrome, and the less common cardio-facio-cutaneous and Costello syndrome, amongst others.