News

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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Improve evidence and overcome the barriers in clinical practice for rare diseases 20 December 2017

A study published in Trials highlights the applicable opportunities to overcome the main barriers seen in the field of rare diseases. The study aims to improve evidence-based clinical...

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Haematologic disorders: what are the ethical considerations concerning genomic testing? 28 October 2017

An article from the journal of the American Society of Hematology describes the ethical challenges related to genomic testing use for haematologic disorders. It shows that challenges...

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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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MMWR: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease 28 August 2017

On August 25, 2017, the CDC published a report in the Morbidity & Mortality Weekly Report, re-releasing information from CDC’s September 2016...

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EURORDIS launches its declaration on rare diseases at conference held by Maltese Presidency of the EU Council 15 May 2017

The Maltese Presidency of the European Union (EU) Council has recently been praised for bringing rare diseases to the top of the EU agenda. Under the auspices of...

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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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FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders 08 February 2017

February 3, 2017 The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The...

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New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns 08 February 2017

RESEARCH TRIANGLE PARK, NC A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018, thanks...

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Review on prenatal and pre-implantation genetic testing 23 December 2016

A review published in Nature Reviews Genetics traces the history of prenatal and preimplantation genetic testing and its developments. It also provides an overview of progress in...

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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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