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Summary of Edition of 18 September 2024

Achieving health equity for all: Towards a WHA Resolution on rare diseases in 2025

Introducing the Operational Description of Rare Diseases: Towards a global understanding of rare conditions

JARDIN: New project website launched

Inter-ERN guideline for Bardet-Biedl syndrome

ERN BOND and EuRR-Bone: Promoting best practices for rare disease registries

EuroBloodNet at the EHA Congress 2024

Understanding the role of EuroBloodNet in the European sickle cell disease landscape

RARE-LIVER: Uncovering unmet needs in autoimmune hepatitis through the R-LIVER registry

VASCERN: Discover the CADASIL patient pathway

Understanding the role of patient organisations in promoting and developing newborn screening

New Zealand launches first national rare disease strategy

Australia: Results of the country's first adult undiagnosed disease program

Rare Voices Australia: New factsheets on mental health and rare diseases

Canada: British Columbia signs funding agreement on National Rare Disease Drug Strategy

USA: New NORD resources on genetic testing after diagnosis

ERDERA: Partnership for a new era of rare disease research

New EMA pilot to support orphan medical devices

EMA Committee for Advanced Therapies & Management Board: Calls for expressions of interest

Enpr-EMA working group surveys on cross-border clinical trials

EURORDIS: Past and current influence on the European rare disease landscape

Apply for the EURORDIS Open Academy Schools 2025!

ELIXIR: New internal projects funded to support scientific strategy

Introducing the IHI Data Sharing Playbook: Accelerating data sharing for innovative research

Models for sustainable public financing of gene therapies around the world

Understanding accessibility of mental health services for caregivers of children with a rare disease

CONNECT-ROD: Evaluation of an online psychosocial support intervention for adults with a rare disease

A framework for rare disease registry development based on rare neurogenetic diseases

The Digital Atlas of Ancient Rare Diseases (DAARD): The role of archaeological evidence in current medical research

Customising common data models for rare diseases to enable large-scale studies

How accurate are large language models for differential diagnosis of genetic conditions? Comparing open- and

Epidemiology and geographical distribution of rare diseases in China

Epidemiology and healthcare burden of rare diseases among hospitalised adults in Malaysia

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Scientific editor: Perrine Renard

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Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Alexis Arzimanoglou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry, Perrine Renard

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.