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Volume 19 Issue 2, February 2020

Platforms for rare disease therapies, inspired by the Review on p93.

Cover design: Susanne Harris.


  • A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.

    • Melissa Haendel
    • Nicole Vasilevsky
    • Tudor I. Oprea


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News & Analysis

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Research Highlights

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  • Most rare diseases still lack approved treatments. This article analyses the main therapeutic modalities available to researchers interested in translating advances in the scientific understanding of rare diseases into therapies, highlights progress so far and discusses overarching issues in drug development for rare diseases.

    • Erik Tambuyzer
    • Benjamin Vandendriessche
    • Marco Prunotto
    Review Article
  • Precursor mRNA processing, which includes the removal of introns by splicing and the formation of 3′ ends by cleavage and polyadenylation, is frequently altered in tumours. This Review describes small molecules and oligonucleotides that modulate the spliceosome and are now in clinical trials for the treatment of cancer.

    • Joana Desterro
    • Pedro Bak-Gordon
    • Maria Carmo-Fonseca
    Review Article
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