RAS-MAPK

Full Study Name

Understanding the disorders of the RAS-MAPK pathway

Local Principal Investigator

Dr Emma Burkitt-Wright

Study Status

recruiting

Main Aims
  • To characterise the clinical presentations of a group of patients with germline disorders of the RAS-MAPK pathway, including patients with Noonan, Costello syndrome, and those with features of cardio-facio-cutaneous syndrome
  • To search for the genetic basis of the clinical presentation in patients with CFC and related disorders using newer types of genetic analysis including a) high resolution microarray analysis and b) high throughput sequencing.
  • To make available any findings from this study so that they can be used to aid patient management and genetic counselling in the families involved.
Inclusion Criteria

Patients diagnosed with germline disorders of the RAS-MAPK pathway, including patients with Noonan, Costello syndrome, and those with features of cardio-facio-cutaneous syndrome

Exclusion Criteria

None specified

Open Sites

Birmingham, Cambridge, Cardiff, Leeds, Newcastle, North West London, Oxford, Exeter, Sheffield, Southampton, Bristol, Leicester

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