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Summary of Edition of 15 December 2023

OrphaNews will be back in the new year

EURORDIS names Virginie Bros-Facer as new CEO

ITHACA survey on new guideline topics

ITHACA calls for collaboration

GUARD-Heart survey on access to drugs for arrythmia

New publications by GUARD-Heart members

Submit your poster abstract for ECRD 2024

Newborn screening in Australia in the age of genomics

US: Towards quantitative systems pharmacology-informed drug development

Parental attitudes towards genetic testing for NMDs in Malaysia

First 2024 Black Pearl awardee announced

Protocol of the Screen4Care project

EURORDIS welcomes proposed amendments on health to EU Treaties

ERICA & EJP RD joint conference: Presentations available

ELIXIR publishes Scientific Programme for 2024-2028

EJP RD: Training on strategies to foster solutions of undiagnosed rare disease cases

Gene therapy pharmacovigilance in the EU

Evaluating compassionate use for rare diseases from 1991-2022

Understanding Breakthrough Therapy Designation in the United States

EMA: positive opinions on market authorisation with an orphan designation from July-November 2023

EMA: New positive opinions for orphan designation accorded by the COMP from July-November 2023

FDA: New market authorisations granted from July-November 2023

FDA: New orphan designations approved from July-November 2023

Care coordination in the United Kingdom

The Monarch Initiative: a platform for diagnosing and understanding genetic conditions

The MyPART network: engaging patients to study the natural history of rare solid tumours

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, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry

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.