What we do

We produce systematic reviews of interventions relating to the care of people of with a number of genetic disorders (as described below) and to their families. As well as interventions aimed at preventing or treating genetic disorders, measures for early detection are particularly relevant to those with inherited diseases. Our reviews currently only include evidence from randomised controlled trials (RCTs), but we are working to develop reviews which include other trial designs. The Group’s broad areas of interest are listed below.

Cystic Fibrosis

Haemoglobinopathies

Chest x-rayRed blood cells
All interventions covering the early detection and ongoing treatment of cystic fibrosis.All interventions concerned with the early detection and treatment of haemoglobinopathies (e.g. sickle cell disease and thalassaemias).

Inborn errors of
metabolism

Inherited coagulopathies

DNA helixBlood transfusion
All interventions concerned with the early detection and treatment of inborn errors of metabolism (e.g. Gaucher's disease, phenylketonuria, galactosaemia).All interventions concerned with the early detection and treatment of inherited coagulopathies (e.g. haemophilia).

Other genetic disorders

There are other genetic disorders which do not clearly fall into these areas. Reviews of interventions for these disorders will be considered on a case-by-case basis by the editorial team and discussed with potential authors. A decision about inclusion will depend on:

  • whether it might be more appropriately placed in another registered or emerging group;
  • an analysis of the time required.

If the review is likely to require considerable administrative or editorial resources (searching time, for example), we need to check the review topic is acceptable and a priority to our funders.