Rare diseases || Updates on Specific Diseases

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Last Posted: Nov 22, 2017

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• Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.  
  Schofield Deborah et al. NPJ genomic medicine 2017 2
• Marking 15 years of the Genetic and Rare Diseases Information Center.  
  Lewis Janine et al. Translational science of rare diseases 2017 May 2(1-2) 77-88
• The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact  
  H Lochmuller et al, Eur J Human Genetics, Nov 21, 2017
• A Life Saved By Genetic Sequencing  
  K Raven, Yale Medicine, Nov 20, 2017
• A Wish Realized: Genetic testing solves a family medical mystery  
  Mayo Clinic, Nov 16, 2017
• Extreme parenting: How the mothers and fathers of children with ultra rare disorders spearhead their own support and research strategies.  
  K Edwards, Genome Magazine, Nov 16, 2017
• Monogenic Diseases of DNA Repair.  
  Keijzers Guido et al. The New England journal of medicine 2017 11 (19) 1868-1876
• Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.  
  Forestier-Zhang Lydia et al. Orphanet journal of rare diseases 2016 11(1) 160
• Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).  
  Somanadhan S et al. Orphanet journal of rare diseases 2016 11(1) 138
• Rare genetic diseases: update on diagnosis, treatment and online resources.  
  Pogue Robert E et al. Drug discovery today 2017 Nov
• Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.  
  Megahed Hisham et al. Orphanet journal of rare diseases 2016 11(1) 57
• eRAM: encyclopedia of rare disease annotations for precision medicine.  
  Jia Jinmeng et al. Nucleic acids research 2017 Nov
• The RARE List™  
  Approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide, Global Genes, Nov 2017
• The RARE List™  
  Approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide, Global Genes, Nov 2017
• My "Orphan Disease’ Has Given Me a New Family  
  R Garland-Thomson, New York Times, Oct 26, 2017
• Progress in rare diseases research 2010-2016: an IRDiRC perspective.  
  Dawkins Hugh Js et al. Clinical and translational science 2017 Aug

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