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Summary of Edition of 23 June 2023

EURORDIS, European Disability Forum, and others call for a more inclusive future for Europeans with disabilties

ITHACA: New European consensus guideline for Phelan-McDermid syndrome

ERNICA and eUROGEN: Launch of English sexual support website

Endo-ERN: EuRRECa registry annual reports now availble

Read the abstracts from the 2022 European conference on Rare Diseases & Orphan Products

Submit your nomination for the 2024 Black Pearl Awards!

Orphanet 2022 Activity Report highlights

RDI statement to WHO 24th Expert Committee on Selection and Use of Essential Medicines

Time-limited recommendations in health technology assessment: Current processes and future directions

Horizontal inequity among rare disease patients in South Korea: The need for stronger financial assistance

Upcoming changes to clinical trial regulation in the UK: What implications for rare diseases?

Alexandra Heumber Perry appointed as CEO of Rare Diseases International

USA: FNIH announces diseases selected for BGTC clinical trial portfolio

EUnetHTA 21 Consortium to cease operations

Launch of the European Commission's mental health strategy: EURORDIS responds

MoCA: Reflecting on a decade of multi-stakeholder dialogue towards orphan drug accessibility

Action statement from the Wilson's Disease Policy Network

Decoupling orphan drug status from superiority labels at the EU level to improve patient outcomes

Norway: National Advisory Unit on Rare Disorders unveils website expansion

EURORDIS Rare Barometer survey on newborn screening

Recommendations for overcoming challenges in cell and gene therapy HTA

Rare, ultra-rare, and common cancer drugs approved by the FDA: A cross-sectional analysis

EMA: One positive opinion on market authorisation with an orphan designation in May 2023

EMA: Twelve new positive opinions for orphan designation accorded by the COMP in May 2023

FDA: Four new market authorisations granted in May 2023

FDA: 32 new orphan designations approved in May 2023

Rethinking genetic counselling for rare diseases: Evidence from the NHS Ehlers Danlos syndrome service

Using economic evaluations to make decisions about the content of newborn screening programs in LMIC

Current opportunities and barriers to facilitating patient engagement in research

An ontology-rich approach to rare disease identification from clinical notes using ORDO

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is supported by the Fondation IPSEN – Fondation de France.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, Julie Bruyere-Zrelli

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia),  Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Ingeborg Barisic (Croatia), Marios Antoniades (Cyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Stefanie Weber (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Madara Auzenbaha (Latvia), Birute Tumiene (Lithuania),  Dijana Plaseska Karanfilska (North Macedonia), Neville Calleja (Malta) Abdelaziz Sefiani (Morocco), Wendy va Zelst-Stam (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Cristina Rusu (Romania), Sergey Kutsev (Russia), Dragica Radojkovic (Serbia), Gabriela Hrčková (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)

Country Correspondants: Gareth Baynam (Australia)
Disclaimer: 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 its financers.

Photo credit : Serimedis (unless otherwise stated)