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Summary of Edition of 26 July 2023

ERICA: Updated PROMs repository released

REGISTRATION OPEN: Conference on rare diseases and the ERNs

Apply to organise the 2024 ERN RARE-LIVER EASL Academy

ERN SKIN: Save the date - 2nd World Congress on Rare Skin Diseases

ITHACA: New ePAG call

ERN-EYE: June webinars replay

TransplantChild: New video presentation

NEW: Search diseases by clinical signs and symptoms

Submit your nomination for the 2024 Black Pearl Awards!

New collaboration between ICD-11 and MedDRA

UK: New Rare Disease Research Platform announced

New IRDiRC recommendations on basket clinical trials for accelerating drug development

Japan: Recent advances in research and awareness of rare skin diseases

Protecting access to medical devices for children and rare disease patients: An open letter to the European Commission

Expert centre implementation of national registries: Experience from the French BNDMR

The REMEDi4ALL consortium: Engaging patients in drug repurposing

IHI appoints Dr Niklas Blomberg as new Director

EMA: One positive opinion on market authorisation with an orphan designation in June 2023

EMA: Eleven new positive opinions for orphan designation accorded by the COMP in June 2023

FDA: Eight new market authorisations granted in June 2023

FDA: 29 new orphan designations approved in June 2023

COVID-19: Lessons learned for supporting people with rare dementias and their carers

Closing gaps between caregiver expectations and needs for information support

Pgds-ResNet: Using deep learning to enhance prenatal screening

Caregiver eHealth literacy and patient quality of life: Lessons from osteogenesis imperfecta

Factors affecting presence of RCT data in successful drug applications in the US

AIDA for Patients: Creating a patient-led registry for Behçet's disease

The chILDRN registry: Design of the first US registry for children's interstitial and diffuse lung disease

epimutacions: A new Bioconductor package for epimutation detection in rare disease diagnosis

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)