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Summary of Edition of 07 October 2021

COVID-19 and rare diseases: Lessons learned

Orphanet Nomenclature and website available in new languages

Remembering Jordi Llinares Garcia

ERN-RITA: Replay of the webinar on clinical guidance for vaccination of children with rheumatic diseases

ERN-EURACAN: Recording of the Summer Update on thymic epithelial tumours now available

ERNICA: Re-launch of the clinical exchange programmes

ERKNet: New workshop on fundamentals in paediatric dialysis

ERKNet: Creation of the EUROCYS Registry for patients with cystinuria

ERKNet: The 2020 ERKReg Annual Report is now online

ERKNet: Launch of a survey on the idiopathic nephrotic syndrome

Endo-ERN: New symposium on the Prader Willi Syndrome

ERN RARE-LIVER: Prevalence of COVID-19 in patients with autoimmune liver disease in Europe

ERN EuroBloodNet: Past webinars now online

ERN EuroBloodNet: Webinar series on Myelodysplasia

ERN GENTURIS: Conference to celebrate the ERN’s 5-year anniversary

VASCERN: Webinar on Collagen, the Ehlers-Danlos Syndromes and vascular fragility

Evaluation of rare diseases policy performance of OECD countries using health policy indicators

United States: Launch of a new rare diseases data and analytics platform

United States: California legislature poised to establish Rare Disease Advisory Council

India: Government launched a digital crowdfunding programme for rare diseases

Australia: Formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western

New Zealand: Ministry of Health not to proceed with a rare disorder national framework

Call for a UN Resolution for persons living with a rare disease and their families

Agreement on a regulation on the European Cooperation in Health Technology Assessment

Rare disease patients' opinion on the EU Cross-Border Healthcare Directive

Recommendations for action in the EU Pharmaceutical strategy

Launch of a survey on paediatric Advanced Therapy Medicinal Products Expertise

Call for a European Action Plan on Rare Diseases: EURORDIS survey results

The impact of health-care utilisation by rare disease patients in the United States

Parents’ experiences with the U.S health insurance system for children with rare diseases

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

Estimating the broader fiscal consequences of acute hepatic porphyria in Belgium

Economic burden associated with tenosynovial giant-cell tumour

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex

R&D and market size: Who benefits from orphan drug legislation?

Essential list of medicinal products for rare diseases

The impact of different country processes for appraising rare disease treatments

Reauthorisation of the Prescription Drug User Fee Act (2023-2027): impact on rare diseases

European stakeholder perspectives on challenges to rare disease drug development

A systematic review of moral reasons on orphan drug reimbursement

Trends in rare disease drug development

The impact of rarity in NICE’s health technology appraisals

New Australian national pilot program for Congenital Adrenal Hyperplasia newborn screening

 

The status quo of rare disease patients and care-givers in China

Quality of life of transplanted children and their parents: a cross-sectional study

Factors for perceived barriers to employment success for Neurofibromatosis Type 1 patients 

The impact of rare chronic neurological disease in childhood on the quality of life of families

The psychological burden of Val50Met hereditary transthyretin amyloidosis

Clinical, genetic and quality-of-life study of adult patients with tuberous sclerosis

Health-related quality of life for patients with CLN2 disease

Anxiety and depression in school-age patients with spinal muscular atrophy in China

Quality-of-life impact of ravulizumab and eculizumab in paroxysmal nocturnal hemoglobinuria

Perceived mental health in parents of children with rare congenital surgical diseases

The impacts of having an infant or young child with achondroplasia on parent well-being

The de novo FAIRification process of a registry for vascular anomalies

Lessons learned from haemolytic uremic syndrome registries

10 years of the CEMARA database in the AnDDI-Rares network 

The LORIS MyeliNeuroGene DataBase for Rare Diseases 

Barriers to data sharing in the EU

TEHDAS highlights need to review European policies on health data access

The VGG-16 genetic syndromes screening model

Cybernic treatment with a wearable cyborg for rare neuromuscular disease patients

Improving early diagnosis of rare diseases using natural language processing

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: Nour Zargouni
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo, Daria Julkowska, Irene Mathijssen, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia),  Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), 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), Ieva Malniece (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), Gabriela Hrčková (Slovakia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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Photo credit : Serimedis (unless otherwise stated)