News

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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Obituary Prof. Dr. Ruth Illig 19 July 2017

On June 26th, 2017 Prof. Dr. Ruth Illig peacefully passed away after a life fulfilled with an untired commitment for children with endocrine diseases. She has been an...

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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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