Defining the clinical phenotypes associated with mutations causing dysfunction of the RAS-MAPK pathway
RAS-MAPK pathway / Posted 1 year ago
We propose to study a group of genetic conditions, called RAS¬MAPK pathway disorders, in which high rates of congenital abnormalities, learning difficulties, short stature and other health and developmental problems occur (including childhood tumours). The incidence of these various problems is not yet fully known in the different conditions. This study seeks to find out how common these different features are across the conditions. Changes in many different genes cause these disorders. The proteins that these genes code for all work together in a biochemical pathway, called the RAS¬MAPK pathway. We will examine what particular problems are associated with particular changes (mutations) in each of the genes. Some patients with these conditions do not currently have a known genetic reason for their condition, and we shall seek to identify new genes for these conditions. To do this, a group of patients will be studied, and blood and, where available, other tissue samples from these patients will be subject to molecular analysis. There is great variety in the severity of problems that people with these conditions have, and why this should be is currently poorly understood. It is possible that other genes will be shown to be important in how many difficulties an individual with one of these disorders may have. Such information arising from the study will potentially be useful to patients, their families and their doctors in the future.