The US’ National Cancer Institute (NCI) is doing research into RASopathies, to learn more about the development of tumors in patients with a RASopathy.
RASopathies are a group of conditions 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.
While there are different RASopathies (currently, fewer than 10 known conditions) and each syndrome has unique features, some common features include heart defects, skin, bone, eye and muscle problems, short stature, learning difficulties, differences in appearance, and an increased risk of developing benign and cancerous tumors. These include the following conditions:
- Noonan Syndrome
- Costello Syndrome
- Cardiofaciocutaneous Syndrome
- Legius Syndrome
- Capillary Arteriovenous Malformation Syndrome
- Other RASopathies syndromes
This is an international study, and they are reaching out to families to participate.
This information was shared to us by the RASopathies Network UK, whose director is a fellow Manchester parent-carer.
Their website also includes local studies run by the University of Manchester and Manchester Centre for Genomic Medicine:
- A Registry Study to Characterise Genetic and Pathway Biomarkers in Noonan Syndrome and Other RASopathy Patients
- Cognitive and Social Profiling: Exploring Rasopathies (CASPER)
Please visit their “Research Studies / Clinical Trials” page for more information.