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Summary of Edition of 15 November 2021

SNOMED CT to Orphanet map released to improve representation of rare diseases

ERN ITHACA: Call for collaboration on SMARCC2

ERN ITHACA: Call for collaboration on variants in BUD23 and TRMT112

ENDO-ERN: Webinar on non-metastatic thyroid microcarcinoma

ERN EURO-NMD: Webinar on muscle and statins

ERN EURO-NMD: Second round of bursary scheme open

VASCERN: Webinar series from the Vascular Anomalies Working Group

Australia: Government funding for Rare Disease Awareness, Education, Support and Training (RArEST) Initiative

Variation in market access decisions for cell and gene therapies across the United States, Canada, and Europe

Launch of EU research project “Screen4Care”

Commission proposes a progressive roll-out of the new In Vitro Diagnostic Medical Devices Regulation

European HTA agencies launch the Heads of Agencies Group (HAG)

EURORDIS call for harmonised Newborn Screening in Europe

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

The utility of a Rapid Review evaluation process to a national HTA agency

The prevalence and healthcare utilisation of rare neurological diseases in Hong Kong

Variables affecting pricing of orphan drugs: experiences from Italy

Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases

Quality of life of congenital ichthyoses patients' families

The perceptions of people living with genetic conditions

An objective approach to identify priority rare diseases to reduce diagnostic delay

The patient experience of fatigue in systemic lupus erythematosus

Patients’ priorities for an EU registry for rare bone and mineral conditions

Rare as One Request for Information: patient registry data interoperability

RaDiCo, the French national research program on rare disease cohorts

GA4GH consultation on Consent Clauses for Large Scale Initiatives

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
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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)