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Rasopathies Research Program

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Rasopathies Research Program

About the Rasopathies Research Program

Under the direction of, the Rasopathies Research program at ֲý Children’s Hospital, Delaware investigates Costello syndrome and a variety of genetic mutations referred to as rasopathies.

Research Interests

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.

Lab Head


Director, Rasopathies Program
Chief, Division of Medical Genetics, ֲý Children’s Hospital, Delaware; and Professor of Pediatrics, Thomas Jefferson University

Current Research Group

  • and her lab
  • Beth Denenberg, LGC
  • Angela Lin, MD
  • Marni Axelrad, PhD

Our Location

ֲý Children’s Hospital, Delaware
1600 Rockland Road
Wilmington, DE 19803
Phone:(302) 651-5916
Fax:(302) 651-5033
karen.gripp@nemours.org

Research Interests & Projects

The ongoing research project “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 asfrom endocrinology,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, 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.