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Summary of Edition of 22 September 2017

IRDiRC: Achievements and ambitious new goals for rare disease research

Orphanet publishes its 2016 Activity Report

Update for class waivers in paediatric oncology

EURORDIS Black Pearl Awards: Nominate a rare disease star

European Reference Networks: a conceptual framework of cross-border healthcare

Public Health: New sequencing in Genomic Medicine

Huntington disease liminal stage after predictive testing

In vitro data on mutations deemed sufficient by the FDA to expand cystic fibrosis drug label

Sickle disease new treatment approved by the FDA

FDA approvals of new molecular entities in 2016

Surrogate outcomes: efficient enough to analyse drug dosage in oncology?

Newborn Screening Connect Registry (NBS Connect): beneficial for clinicians and patients?

The global Angelman syndrom patients registry

Credits

OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE (RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor:  Déborah Deprez
Editor for Scientific Content: Sophie Höhn
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Editorial Board: Valentina Bottarelli, Teresinha Evangelista, Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Milan Macek, Till Voigtländer

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Disclaimer: This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

 

Photo credit : Serimedis (unless otherwise stated)