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Under the direction of��, the Rasopathies Research program at Nemours 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.

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 as����from 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.