Solving the genome puzzle: With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived?

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Last Posted: Sep 21, 2018

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• Solving the genome puzzle: With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived? 
  L Geddes, The Guardian, September 21, 2018
• New study focuses on the experience of parents of children with Rare Disease
  S Eng, Rare Disease Foundation, September 18, 2018
• Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders
  L Geddes, Mosaic, September 18, 2018
• [Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].
  Vermalle Marie et al. Annales d'endocrinologie 2018 Sep 79 Suppl 1S10-S21
• Rare Diseases Inform Myocardial Phenotypes for Precision Medicine.
  MacRae Calum A et al. Journal of cardiac failure 2018 Sep
• A Battle Plan for a War on Rare Diseases
  K Weintraub, New York Times, September 10, 2018
• Effectiveness of Clinical Decision Support Based Intervention in the Improvement of Care for Adult Sickle Cell Disease Patients in Primary Care.
  Mainous Arch G et al. Journal of the American Board of Family Medicine : JABFM 31(5) 812-816
• FAMILIAL CHYLOMICRONEMIA SYNDROME: A CLINICAL GUIDE FOR ENDOCRINOLOGISTS.
  Falko James M et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018 Aug 24(8) 756-763
• Genomic Medicine: Are We Ready?
  S Harris, Medscape, September 2018
• Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.
  Swezey T et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2018 Sep

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