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...

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...

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...

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...

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...