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Summary of Edition of 21 October 2021

Know the rare for better care: Orphanet presented in a new video

Final webinar on the integration of the ERNs in the Italian healthcare system

VASCERN: The Do’s and Don’t’s of Loeys-Dietz syndrome

VASCERN: New study on the Marfan syndrome

ERKNet: Second class of the Postgraduate Curriculum in Rare Kidney Disease

EpiCARE: EpiCARE joins forces with Solve-RD

ERN-BOND: Launch of a new website

ERN ITHACA: Call for collaboration on mutations in SKI gene

MetabERN: New collaboration with Medics4RareDiseases

ERN PaedCan: Interactive Webinar Series with Young SIOPE

ERN ReCONNET: Launch of TogethERN ReCONNET

ERN ReCONNET: Study on COVID-19 Vaccination in Rare and Complex Connective Tissue

ERN TRANSPLANT-CHILD: E-learning course on the PaEdiatric Transplantation European Registry

ERN TRANSPLANT-CHILD: 3rd TransplantChild Workshop

Australia: Government announces Five Year Strategic Agreements with the Medicines Industry

Towards a reform of EU's pharmaceutical legislation

Set of measures to evaluate patient engagement in the European Reference Networks

Italy: Fondazione Telethon and UILDM, a successful partnership for neuromuscular healthcare research

Norway: New national strategy for rare disorders

Poland: Awareness of rare diseases among physicians

Participant-funded clinical trials on rare diseases

FDA finalises guidance on Orphan Drug “sameness” of gene therapies

Orphan Drugs, compounded medication and pharmaceutical commons

Cost, access, and adoption of novel cardiovascular drugs in clinical practice

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents

Executive functions and quality of life in children with neurofibromatosis type 1

Improving patient-reported outcome measures in late-onset Pompe disease

The impact of demographic and clinical characteristics on quality of life among patients with Fabry disease

Tatton Brown Rahman Syndrome Community Patient Registry

TEHDaS examines European data sharing initiatives

BD4BO’s recommendations for the European Health Data Space

ELIXIR report on Open Data for innovation

Report on policy and access environment across European countries for SMA

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)