Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Hernan D. Gonorazky, et al. The American Journal of Human Genetics, Feb 28, 2019

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Rare Diseases, Genomics and Public Health

This week, we highlight rare diseases as a public health issue and the role of genomics in their diagnosis and management. Check out information about Rare Disease Day at NIH.
Read CDC paper: The need for a next-generation public health response to rare diseases.
Check out our knowledge base for the latest information and publications.

Last Posted: Mar 01, 2019

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• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
  Hernan D. Gonorazky, et al. The American Journal of Human Genetics, Feb 28, 2019
• Thoughts from the Front Lines of Rare Disease Research
  NIH Directors Blog, February 28, 2019
• Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
  Power Bradley et al. Orphanet journal of rare diseases 2019 14(1) 52
• Value-Based Pricing for Emerging Gene Therapies: The Economic Case for a Higher Cost-Effectiveness Threshold.
  Garrison Louis P et al. Journal of managed care & specialty pharmacy 2019 Feb 1-7
• Auburn University senior who lost her brother to rare genetic disease is on a mission for a cure
  J McCoy, Auburn U, February 23, 2019
• Two drugs for spinal muscular atrophy should be priced how low to be cost effective?
  E Silverman, Stat News, February 22, 2019
• Nitisinone increases melanin in people with albinism
  NIH News Release, February 20, 2019
• Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
  Najafi Maryam et al. Orphanet journal of rare diseases 2019 Feb 14(1) 41
• Personalization of therapies in rare diseases: a translational approach for the treatment of cystic fibrosis.
  Villella Valeria R et al. Minerva pediatrica 2019 Feb
• Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
  Almási Tímea et al. Orphanet journal of rare diseases 2019 Feb 14(1) 40

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