News

New estimate of worldwide population affected by a rare disease at any point in time 24 September 2019

A new article published in the European Journal of Human Genetics, and co-authored by Orphanet, Orphanet Ireland and EURORDIS, presents an analysis of the prevalence data in...

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Advocacy: rare diseases mentioned within the framework of Universal Health Coverage at UN 15 August 2019

The United Nations Office of the High Commissioner for Human Rights (OHCHR) has made reference to persons living with a rare disease within its recently published annual...

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Implementation of the EU Cross-Border Healthcare Directive 06 July 2019

Cross-border healthcare is key for rare diseases. European collaboration is of particular added value for this field which relies on exchange of knowledge and expertise. The fact...

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USA: Newborn screening for spinal muscular atrophy 13 April 2019

Five United States states now conduct screening test for Spinal Muscular Atrophy on newborns: Missouri, Minnesota, New York, Pennsylvania and Utah. According to an Advisory Committee on Heritable...

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Meeting in the EU Parliament in support of Newborn Screening 03 February 2019

On 30th January 2019 Fabio Massimo Castaldo, Vice President of the EU Parliament, hosted a discussion group to welcome the introduction of a new model for screening in...

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Report from the 4th Conference on ERNs 02 February 2019

On 21 and 22 November 2018, the 4th Conference on European Reference Networks (ERNs) took place at Brussels bringing together health professionals, researchers, patient organisations and policymakers....

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The challenges of cross border genetic research as regards intra-EU conflict of laws 02 February 2019

A paper analysing the challenges posed by genetic research and EU law was recently published in the Journal of Law and the Biosciences. It sheds light on...

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The European Reference Networks video is now available in 24 European languages 03 September 2018

https://www.youtube.com/watch?v=K1tzUfBJ3jA Consult the video in another language

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Sequencing newborns: A call for nuanced use of genomic technologies 03 September 2018

A new special report of the Hastings Center Report calls for nuanced use of sequencing technologies as the cost of these technologies decreases. The authors highlight the...

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Fostering research on rare diseases in Europe: The European Joint co-fund Programme for Rare Diseases (EJP-RD) approved 03 September 2018

Editorial Despite significant investment consented by the European Commission on rare diseases research over the years, and the impressive achievements they produced, major challenges remain that can only be...

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Newborn bloodspot screening National Policy Framework in Australia 04 August 2018

In May 2018, Australia Health Minister Roger Cook has welcomed the decision of Newborn Bloodspot Screening (NBS) programs across Australia to unite in a national approach. Indeed,...

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European Commission establishes Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases 04 August 2018

On 17 July 2018, the European Commission adopted a Decision which established the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases as a...

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Rare diseases mentioned for the first time at WHO 71st World Health Assembly 04 August 2018

At the end of May 2018, Paloma Tejada, Director of Rare Diseases International (RDI), delivered an official statement at the World Health Assembly of the World Health...

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Global Association for PKU (GAP) unveiled 09 July 2018

(Atlanta, July 7 2018) Today...

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Rare diseases medicines: how is patient access in European countries? 05 April 2018

A study published in Science Direct investigates rare diseases patient access to orphan and non-orphan medicines in Europe. The authors’ aim was to evaluate patient access to...

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New CLSI document on Newborn Screening 28 March 2018

Best Practices for Newborn Screening Early detection, diagnosis, and treatment of newborn diseases are critically important. Timely newborn screening can prevent death and improve patient care outcomes. CLSI newborn...

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Australian genomics policy framework 12 February 2018

The Council of Australian Governments Health Council presents the 'Genomics Policy Framework' project which aims to harness the health benefits of genomic knowledge and technology into the...

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RD-Connect Sample Catalogue: the tool to find rare biosamples 12 February 2018

Biological samples such as blood and DNA, provided by patients and stored in biobanks, are valuable material that can be used for future research, e.g. identifying disease biomarkers...

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European Reference Networks: Progress to date and expectations for 2018 12 February 2018

2017 was an important year for the 24 European Reference Networks (ERNs): it was the year in which the Networks were officially launched (at the annual conference in...

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Italy expands its neonatal screening panel as of 2018 02 January 2018

Italy recently adopted a law for mandated national screening for 40 congenital and metabolic conditions. See for the Italian text of the law http://www.trovanorme.salute.gov.it/norme/dettaglioAtto?id=55762 and the implementation...

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Rare disease policy in 11 countries: an analysis 21 April 2017

The national rare disease policy in 11 countries have been compared and contrasted in an article published in the Orphanet Journal of Rare Diseases. The authors evaluated the...

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