News

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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All 50 US States Now Screening Newborns for Severe Combined Immunodeficiency (SCID) 02 February 2019

Decade-long campaign by the Immune Deficiency Foundation and numerous...

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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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National Health Commission in China to screen newborns for congenital heart disease 03 September 2018

China's National Health Commission has launched a project to screen for congenital heart defects among newborns in 24 provincial-level regions. The screening will be given to newborns...

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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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European Rare Disease Day 2018 07 March 2018

On 28 February, EU Commissioner for Health and Food Safety Mr Andriukaitis delivered a speech on the occasion of the European Rare Diseases Day 2018, being a great...

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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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Resource on the State of the Art of Rare Disease Activities in Europe 22 January 2018

Resource on the State of the Art of Rare Disease Activities in Europe

The field of Rare Diseases (RD) in Europe...

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UK Expert committee recommends trial period to test babies for SCID 15 January 2018

UK NSC review calls for trial period to gather more evidence on whether testing for rare-inherited condition should be introduced. Following a review of the evidence, the independent expert...

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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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Newborn Screening Connect Registry (NBS Connect): beneficial for clinicians and patients? 03 October 2017

The Orphanet Journal of Rare Diseases published an article on the web-based Newborn Screening Connect Registry (NBS Connect) showing its benefits for clinicians and for hypothesis-driven research....

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Public Health: New sequencing in Genomic Medicine 03 October 2017

In the American Academy of Pediatrics an article emphasises the value of genomic sequencing technology, especially in technical, clinical, ethical and societal challenges that will arise as a...

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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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European Reference Networks: a new concept came to reality 26 March 2017

The 3rd official European Reference Network (ERN) conference took place in Vilnius, Lithuania, on the 9th of March. The following day was dedicated to the kick-off meetings for...

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Guidelines for diagnostic next-generation sequencing 22 March 2016

Guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders has been published in . The work was done on behalf...

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ESHG Statement on the utilisation of whole-genome sequencing in newborn screening 31 January 2016

The progress in whole genome sequencing technology has been gaining ground leading to a significant decrease in both the cost and time needed to generate data on the...

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