Screen4Rare continues advocating for newborn screening for rare diseases!

4 October 2020|by Best4u|Nieuws

Screen4Rare, the platform led by IPOPI, the International Society for Neonatal Screening (ISNS) and the European Society for Immunodeficiencies (ESID) has progressed in the past months. As part of its strategy, Screen4Rare has reached out to the European Reference Network for PIDs and other auto-imm...

Three countries’ experiences in the implementation of newborn screening for spinal muscular atrophy

30 May 2020|by Best4u|Nieuws

Australia, Belgium, and Germany conducted studies to evaluate the implementation of newborn genetic screening for spinal muscular atrophy (SMA). In Australia, 103,903 newborns were screened, and ten were screened positive to SMA, while genetic information was found in 9/10 of newborns. In the same v...

Qatar: The first anniversary of the establishment of the National Centre for Rare Disease

30 May 2020|by Best4u|Nieuws

In Qatar, the Hamad Medical Corporation (HMC), and the Heidelberg University Hospital (HUH) hosted the first anniversary of the National Centre for Rare Diseases that was established in 2019. The National Centre for Rare Diseases is visited by people with rare diseases from the Middle Eastern countr...

Targeted neonatal screening of at-risk newborns for SCD in France 2005-2017

31 December 2019|by Best4u|Nieuws

From 2005 to 2017, in metropolitan France, a national, descriptive, retrospective study was conducted, aiming to identify and analyse in the most comprehensive way, every case of failed neonatal targeted screening for sickle cell disease. All pediatric hematologists in metropolitan France were asked...

Launch of a pilot study for extensive consented newborn screening in the New York State

17 November 2019|by Best4u|Nieuws

A team of researcher led by Pediatric genetic expert Dr. Melissa Wasserstein has been awarded $3.2 million from the National Institutes of Health (NIH) to conduct the most expansive consented pilot newborn screening study in the country, known as ScreenPlus. Newborn babies are currently screened for...

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

24 September 2019|by Best4u|Nieuws

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 the Orphanet database and estimates that the number of people living with rare diseases between 263–446 million people in th...

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

15 August 2019|by Best4u|Nieuws

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 report to the UN Economic and Social Council (ECOSOC). The 2019 report focuses on the topic of Universal Health Coverage (UHC), an...

Implementation of the EU Cross-Border Healthcare Directive

6 July 2019|by Best4u|Nieuws

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 that patients can access care and treatment in another European country, in the context of the Cross-Border Healthcare Di...

Meeting in the EU Parliament in support of Newborn Screening

3 February 2019|by Best4u|Nieuws

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 Italy and to explore the wider implications within the EU. Vice President Castaldo opened the meeting by stressing the importance of...

Report from the 4th Conference on ERNs

2 February 2019|by Best4u|Nieuws

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. The conference set to seek how to consolidate the networks and identify the problems that still nee...