Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

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Last Posted: May 11, 2017

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• Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.  
  Zurynski Yvonne et al. Orphanet journal of rare diseases 2017 Apr 12(1) 68
• Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.  
  Alzarka Bakri et al. Frontiers in pediatrics 2017 580
• Initiating an undiagnosed diseases program in the Western Australian public health system.  
  Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83
• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.  
  Boycott Kym M et al. American journal of human genetics 2017 May 100(5) 695-705
• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases  
  KM Boycott et al, AJHG, May 4, 2017
• Life with a Rare Genetic Disease: The Science, the Suffering and the Hope  
  M Angrist, New York Times, April 28, 2017
• When even genome sequencing does not provide a diagnosis.  
  Tech Review, April 2017
• Massive-scale genomic data sharing to improve rare disease diagnosis  
  D MacArthu8r VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing  
  BB Cummings et al, Sci Trans Med, April 19, 2017
• Searching for a diagnosis: a network of doctors tries to solve medical mysteries  
  A Gorman, Stat News, April 20, 2017
• ApreciseKUre: an approach of Precision Medicine in a Rare Disease.  
  Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
• Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.  
  Kodra Yllka et al. Annali dell'Istituto superiore di sanita 52(3) 428-433
• Facial recognition software helps diagnose rare genetic disease  
  NHGRI, March 2017
• Where lost diseases go.  
  Proto Magazine, March 2017
• Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.  
  Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48
• Advice from the Rare Disease Community  
  Genome Magazine, February 28, 2017

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