Under the direction of Karen W. Gripp, MD, The Rasopathies Research program at Nemours/Alfred I. duPont Hospital for Children 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.
Karen W. Gripp, MD, Director, Rasopathies Program
Chief, Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children; and Professor of Pediatrics, Thomas Jefferson University Learn More About Dr. Gripp »
The ongoing research project, entitled “Costello syndrome: Clinical and Molecular Investigations,” examines specific clinical areas, such as brain abnormalities, cancer predisposition and skeletal abnormalities, in Costello syndrome and related disorders. It aims to establish genotype-phenotype correlations and to assess the outcome of screening and treatment strategies.
This project is collaborative, including specialists of focus areas, such as Dr. Daniel Doyle from endocrinology, Dr. Mihir Thacker from orthopedics, and collaborators in other institutions, such as Dr. Angela Lin from Harvard Partners, and Dr. Marni Axelrad from Texas Children’s Hospital. Laboratory studies are performed by Dr. Katia Sol-Church, the director of the biomolecular core laboratory, who is a long-standing co-investigator in this research Additional collaborative efforts include participation in the research project led by Dr. Anders Kolb on tumor treatment in rasopathies.