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Summary of Edition of 21 December 2021

Adoption of the first UN Resolution on Persons Living with Rare Diseases

Season's Greetings from Orphanet

Results of the 2019 call for membership to the ERNs

ERN eUROGEN: Clinical performance in rare urogenital cancers

ERN ReCONNET: Survey on the training and educational needs of healthcare professionals

ERN RARE-LIVER: Survey for the Specialist Nurse Working Group

ERN EurobloodNet: Educational programme on Castleman Disease

ERKNet: Survey on NSAID in patients with NDI or Bartter Syndrome

ERN ITHACA: Call for collaboration on PIGW bi-allelic variants

ECRD 2022: Call for poster abstracts submissions open

RD-CODE: New video on ORPHA codes on why and how to use them

Update of Orphanet Report series on Orphan Drugs

IRDiRC: Towards 1000 new rare diseases treatments by 2027

Australia: The New Frontier – Delivering better health for all Australians Parliament report

United States: FDA and NIH launch the Bespoke Gene Therapy Consortium

United Kingdom: Proposals for the Innovative Medicines Fund

Commission Implementing Regulation on the European Database on Medical Devices

Adoption of the legislation creating the Innovative Health Initiative

Germany: Evaluating the cooperation between centres for rare diseases and primary care physicians

Slovenia: Towards a comprehensive strategy for the management of rare diseases

Clinical pharmacology’s contributions to drug development for rare neurological diseases

Drug repurposing strategy in nephropathic cystinosis

Committee for Orphan Medicinal Products: Positive opinions for orphan designation

CHMP grants market authorisation for 5 medicines

64 products granted orphan designation by the FDA

Quality of life of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic in

The burden of Niemann Pick type-C on patients and caregivers

Launch of the Gorlin Syndrome Alliance Patient Registry

Motives and willingness in biobanking participation

RDCA-DAP platform now open

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is realised with the support of Fondation IPSEN, under the aegis of Fondation de France.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Nour Zargouni
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo, Daria Julkowska, Irene Mathijssen, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia),  Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), 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), Ieva Malniece (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), Gabriela Hrčková (Slovakia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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Photo credit : Serimedis (unless otherwise stated)