Back

Summary of Edition of 16 August 2024

EJP RD: Looking back on 5 years of developing the rare disease research ecosystem

Achieving Universal Health Coverage for rare diseases through primary care: Findings from the IRDiRC Primary Care Task

ERN Guidelines Programme publishes new handbook on patient involvement in guideline development

ERKNet: New surveys launched

EuroBloodNet: New publication on access to stroke prevention care in paediatric sickle cell disease

EuroBloodNet: Updated survey on sickle cell disease

eUROGEN: New informational materials for patients

RARE-LIVER: 2025 call for workshops now open

ERN ReCONNET: New publications by ePAG representatives

ERN RITA: New resources for children with lymphoedema and their caregivers

ERN-RND Spring School 2024: Recordings available

2024 Nomenclature Pack now available!

Revision of rare vascular tumour classifications

Available now: Updated ORS on medicinal products, research infrastructure, and registries

Recommended research priorities from the IRDiRC Diagnostics Scientific Committee

Readiness assessment for expanding newborn bloodspot screening in Australia: Executive summary available

Advancing rare disease research in the United States through collaboration: Work of the NCATS Division of Rare Diseases

USA: NORD holds annual Living Rare Forum and Rare Impact Awards

Critical Path Institute and Sanford Health sign data-sharing agreement

New Zealand: RDNZ issues call for expressions of interest in new Clinical Advisory Panel

Health policy following the 2024 EU elections and the future of rare disease advocacy

From TEHDAS to TEHDAS2: Promoting secondary usage of health data

New EU guidance on clinical evaluation of orphan medical devices published

Black Pearl Awards 2025: Nominations open!

Innov4-ePiK: French stakeholders join forces revolutionise care for epileptic and developmental encephalopathies

Enpr-EMA survey on cross-border clinical trial access for paediatric patients

Participate in the EJP RD survey

Complete the Rare Barometer survey on rare diseases and social participation!

EATRIS survey on ACT-EU

The OrphaDev4Kids project kicks off

Maximising rare disease research and investment returns through economic spillovers

Decision-making processes for economic evaluation of newborn screening programmes: A case study of Quebec

EMA: Two new positive opinions on market authorisation with an orphan designation in June 2024

EMA: Fourteen positive opinions on orphan designation accorded by the COMP in June 2024

FDA: Ten new market authorisations with orphan designation granted in June 2024

FDA: Twenty-one new orphan designations approved in June 2024

Patient experiences accessing rare disease care during the COVID-19 pandemic: Results from a UK survey

Diagnostic utility of Whole Genome Sequencing in Latin America: Results from a cohort study in Colombia

Establishing minimal data elements for long-term follow-up of newborn screening

Newborn screening in Latin America: Current landscape and future directions

RDMM-Europe: A Solve-RD platform for functional validation of disease genes

PheIndex: An algorithm to identify patients aged 0-3 with potential genetic disorders

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

Contact Us
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.