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Summary of Edition of 16 May 2023

Proposed revisions to EU pharma strategy draw mixed reactions

Solve-RD partners call for strengthening of rare disease diagnosis in Europe

Endo-ERN: Upcoming webinars

ERN GENTURIS webinar: von Hippel-Lindau disease - the endocrinologist's perspective

Orphanet Data for Rare Diseases 2 project kicks off!

Deciphering Developmental Disorders study: Strategies for diagnosing rare paediatric diseases in UK, Ireland

United States: The future of market exclusivity

Türkiye: Impact of earthquakes on the lives of PLWRD

IHI Patient Pool: Call for members

SIMPATHIC Consortium receives funding to advance medicines repurposing

Nordic Rare Disease Summit 2023: Continuing along the Roadmap for Rare Diseases

Screen4Care holds first in-person partners meeting

Participate in the public consultation on the upcoming European Rare Diseases Partnership

EURORDIS is looking for Digital and Data Advisory Group volunteers

Towards a common approach to economic evaluation of gene therapies

Inclusion of Indian patients in international orphan drug trials

Psychosocial impact of novel ATMPs on early recipients

EMA: No positive opinions on market authorisation with an orphan designation in April 2023

EMA: 2 new positive opinions for orphan designation accorded by the COMP in April 2023

FDA: 8 new market authorisations granted in April 2023

FDA: 22 new orphan designations approved in April 2023

Patient and caregiver experiences in the Undiagnosed Diseases Network

Supportive care in paediatric oncology: Healthcare provider experiences and the role of complementary and alternative

Psychological distress in patients visiting a centre for rare and undiagnosed diseases

Clinical utility of rapid exome sequencing as a diagnostic tool

Incorporating genomics into newborn screening: Implications for mortality

Quantifying QoL in rare diseases: The EQ-5D instrument

Decentralised clinical trials: Minimising the burden of research participation

The GAIN registry: A new resource for IEI research

European registries for paediatric kidney transplantation: Current status and future perspectives

Uncovering patient attitudes towards data sharing in sickle cell disorder

A novel decision support tool for paediatric cancer care

Using cloud-based medical record collection to support rare disease research

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)