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RASopathies Study

RASopathies are a group of syndromes, also called conditions or disorders, caused by changes in genes that send signals across the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. This pathway helps systems in the body to grow and work properly. The genetic changes associated with most RASopathy syndromes are often sporadic. This means that, typically, there are not multiple family members with the same syndrome. 

While there are different RASopathies (currently, fewer than 10 disorders) and each syndrome has unique features, some common features include heart defects, skin, bone, eye and muscle problems, short stature, learning problems, differences in appearance and an increased risk of developing benign and cancerous tumors. Even within the same syndrome, some individuals have few problems, while others have many.

Clinical Study on RASopathies

DCEG investigators are leading an ongoing clinical study to better understand more about the development of tumors in patients with a RASopathy. Learn more about the RASopathies study.

Below is a list of the types of RASopathies in the study:

  • Noonan Syndrome
  • Costello Syndrome
  • Cardiofaciocutaneous Syndrome
  • Legius Syndrome
  • Capillary Arteriovenous Malformation Syndrome
  • Hereditary gingival fibromatosis
  • SYNGAP1 syndrome

For more information, contact Gina Ney.

Clinical Genetics Branch Research Areas

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