Our scope covers a number of genetic disorders which we have split into four main topic areas: cystic fibrosis; haemoglobinopathies; coagulopathies; and inborn errors of metabolism. These areas are then subdivided into diagnosis reviews and treatment reviews. The treatment reviews are then split further according to area of treatment. Additionally, we have published four 'orphan' reviews which do not strictly speaking fall within our scope, but for which we have taken on responsibility. The full list of registered titles, protocols and reviews is available here.
Published protocols and reviews
Our Reviews
Full list | By Subtopic | New - Updated | |||||
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Full list:
By subtopic:
CYSTIC FIBROSIS (109)
TREATMENT (107)
ANTI-INFLAMMATORY & BRONCHODILATOR THERAPY (5)
COMPLICATIONS OF CYSTIC FIBROSIS (12)
CF-RELATED DIABETES (2)
CORRECTING THE BASIC DEFECT IN CF (11)
GASTROINTESTINAL & NUTRITIONAL (17)
MENTAL HEALTH (8)
MOTIVATIONAL INTERVIEWING (2)
PULMONARY INFECTION (33)
GENERAL (4)
PSEUDOMONAS AERUGINOSA (14)
COAGULOPATHIES (18)
HAEMOGLOBINOPATHIES (69)
SICKLE CELL DISEASE (52)
TREATMENT (51)
NUTRITIONAL (4)
Antioxidant supplementation for sickle cell disease (protocol stage)
INBORN ERRORS OF METABOLISM (27)
FAMILIAL HYPERCHOLESTEROLAEMIA (5)
MUCOPOLYSACCHARIDOSES (4)
SMITH-LEMLI-OPITZ SYNDROME (1)
TREATMENT (1)
Statins for Smith-Lemli-Opitz syndrome (protocol stage)
OTHER TOPICS (10)
Oxytocin for treating Prader-Willi Syndrome (protocol stage)