Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics

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Last Posted: Aug 23, 2018

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• Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics
  ACMG, Genetics in Medicine, August 22, 2018
• SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
  López-Martín Estrella et al. International journal of environmental research and public health 2018 Aug 15(8)
• 35 Years & Growing: Personal Stories of Patient Advocacy
  National Organization for Rare Diseases, 2018
• A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
  Papa Riccardo et al. Orphanet journal of rare diseases 2017 12(1) 167
• Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
  Potter Beth K et al. Trials 2017 Dec 18(1) 603
• Recommendations for the Management of Rare Kidney Cancers.
  Giles Rachel H et al. European urology 2017 72(6) 974-983
• Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.
  Valencic Erica et al. Current medicinal chemistry 2018 25(24) 2764-2782
• A Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health
  MJ Khoury, CDC Blog, August 2, 2018
• Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
  Bertier Gabrielle et al. Life sciences, society and policy 2018 Aug 14(1) 17
• She had a lot of rashes, but don’t all kids?
  SG Boodman, Washington Post, July 2018

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