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Summary of Edition of 15 February 2024

Coding the undiagnosed: Outcomes and recommendations from the RD-CODE project

Spotlight on: The Organization for Rare Diseases India

Prospects for incorporating machine learning in ERNs

ERN ReCONNET: Surveys for HCPs and SLE patients

ERN ITHACA: Satellite event to ESHG 2024

Results of the MetabERN survey on LCFAOD monitoring

RDK app recognised by French Agency for digital health + new update available

Results of the 2023 OrphaNews readers' survey

Submit your poster abstract for ECRD 2024

IRDiRC goals and progress since 2017

GA4GH: Heidi Rehm assumes position as Chair, new leadership opportunities

USA: Looking back on 20 years of the Rare Diseases Clinical Research Network

Black Pearl Awards 2024: New awardees announced & Cast your vote for the Photo Award!

In Memoriam: Professor Josep Torrent-Farnell

Save the date: EJP RD Final Conference

Germany: New legislation to improve representation of RD in the healthcare system

Rare Disease Moonshot publishes recommendations on diagnostic research needs; EJP RD joins

EJP RD-EFPIA joint webinar on real-world data and machine learning: Recording available

Introducing the Critical Medicines Alliance

Evaluating orphan drug efficacy through non-clinical studies

2022 Orphan drug approvals by the FDA

Understanding mothers' experiences through narrative analysis

Experiences of adults with a rare disease during the first wave of COVID-19

The importance of evidence-based screening programmes

LanDis: Visualising the interactome

Implementing automation in genomic reanalysis: challenges and opportunities

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

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.