Table 1

National and international collaborative networks aiming to accelerate research into rare genetic diseases

Programme/network nameLocationsActive yearsAims and specific disease interestsKey publications
Finding the Genetic Basis of Learning Disability studyBased at the Cambridge Institute for Medical Research (UK)
Collaborations with Wellcome Trust Sanger Institute (UK), Greenwood Genetic Center (USA), University of Adelaide (Australia) and University of Newcastle (Australia)		2001–presentIdentifying genetic causes of X linked intellectual disability 87
Deciphering Developmental Disorders studyCollaborations across 24 Regional Genetics Services (UK and Ireland) and Wellcome Trust Sanger Institute (UK)2011–2016Identifying genetic causes of developmental disorders 88–90
Finding of Rare Disease Genes Canada ConsortiumNetwork of 21 genetics centres and 3 science and technology innovation centres across Canada, with ad hoc international collaborations across 17 additional countries2011–2013Identifying genes associated with rare monogenic diseases with paediatric onset 91
International Rare Diseases Research ConsortiumInternational network of researchers and organisations with an interest in rare disease research2011–presentContributing to the development of novel rare disease therapies and the means to uncover the genetic causes of rare diseases 92
Undiagnosed Diseases NetworkNetwork of clinical and scientific sites across the USA, coordinated by Harvard Medical School2014–presentAccelerating identification of genetic causes of rare diseases, with use of Drosophila and zebrafish models to validate candidate genes 93 94