Medical disorders: Stop marginalizing rare syndromes : Nature : Nature Research

#RareDisease Research & Lives Matter!  #SNRTG #BigData #science #DNA #CuresNow @NatureNews

  • Medical disorders: Stop marginalizing rare syndromes
  • © 2016 Macmillan Publishers Limited, part of Springer Nature.
  • Rare medical disorders are extremely challenging for patients and their families, and for researchers trying to study them.
  • Promising initiatives include the International Rare Diseases Research Consortium and European Union projects on rare disorders under Horizon 2020.
  • Journal name: Nature Volume: 536 , Page: 396 Date published: (25 August 2016) DOI: doi:10.1038/536396c Published online 24 August 2016

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@Primary_Immune1: “#RareDisease Research & Lives Matter! #SNRTG #BigData #science #DNA #CuresNow @NatureNews”


Rare medical disorders are extremely challenging for patients and their families, and for researchers trying to study them. As a scientist and father of a 41-year-old son with CHARGE syndrome, which affects the heart, ears, eyes and other organs, I believe that we need stronger commitment, a more consistent approach and different types of knowledge and skills to move these investigations forward.


Medical disorders: Stop marginalizing rare syndromes : Nature : Nature Research

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