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Summary of Edition of 15 February 2023

Remote visualisation of genomic alignments advances Solve-RD goals

An audit of paediatric lymphoedema patients at VASCERN expert centres

Common pitfalls in exome sequencing revealed through reanalysis of ERN-ITHACA cases

RARE-Liver: Changes in isolated biliary atresia incidence during COVID-19

EuroBloodNet: Upcoming patient webinars

EpiCARE: New e-learning modules

ERICA WP4 Clinical Trial Support webinar

ERN RARE-Liver EASL academy

ERN-ITHACA webinar on newborn screening

WHO draft resolution on Strengthening diagnostics capacity

Rare disease policy in Latin America: What needs to be done?

Canada announces new Pediatric Cancer Consortium

Canadian government strengthens investment into clinical research

Views of people with intellectual disability on genetic healthcare in New South Wales, Australia

Launch of the Childhood Dementia Knowledgebase advances Australia's National Action Plan for Rare Diseases

IRDiRC launches the Call for Members for the four new Task Forces of the 2023 Roadmap

Submission through CTIS now mandatory for EU clinical trial applications

Public consultation on the ACT EU multi-stakeholder platform now open

COMP amends policy on orphan designations for inherited retinal dystrophies

European Commission call for evidence on the EU Disability Card: EURORDIS's response

EURORDIS Photo Award 2023 voting now open

Diversity of patient advocates engaged in rare disease drug policy

Incentivising drug development for paediatric cancers in Europe

Strengthening reimbursement decision-making for rare disease drugs in Canada

EMA: One new positive opinion on Market Authorisation with an Orphan Designation in January 2023

Twelve new positive opinions for orphan designation accorded in January 2023 by the COMP

Four new Market Authorisations granted in January 2023 by the FDA

Twenty-seven new orphan designations approved in January 2023 by the FDA

Potential benefits of improving access to clinical genomics in the Middle East

Healthcare needs and barriers for Australian children living with rare diseases

A profile of drug use by people living with rare diseases in Tuscany, Italy

Challenges in developing clinical practice guidelines for rare diseases in Japan

Stakeholder perspectives on reproductive genetic carrier screening

Evidence for best practices in implementing large-scale genomic testing programmes

Social support and psychological disorders in rare bone diseases

Health-related quality of life and productivity in caregivers for hereditary transthyretin amyloidosis

Perspectives and experiences of rare disease stakeholders in clinical research

Presenting MetaSTAAR: a new framework for WGS meta-analysis

The role of biobanks in paediatric biomedical research

Outcomes and insights from the Care4Rare Canada Consortium's gene discovery work

Developing a next-generation Open Targets Platform

Reactive gene curation for rare and undiagnosed genetic diseases

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: 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, Holm Graessner, Henri Jautrou,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)


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