Rare Disorders NZ has launched a survey to collect data on the impact of rare disorders on the health system of patients. The aim of the survey is to identify the unmet medical needs of patients and to a larger extent, promote more recognition for people living with rare disorders. Patients and care...

On 24 November 2021; Members of the European Parliament (MEPs) discussed Europe’s Action Plan on rare diseases during a plenary session with Ms Stella Kyriakides, Commissioner for Health and Food Safety. MEPs expressed their support for a European Action Plan for Rare Diseases and called on the Co...

It is more than 50 years since population newborn screening began. The newborn screening programmes have provided life changing benefits for children who are identified and treated before the devastating effects of serious conditions such as phenylketonuria (PKU) can cause irreversible damage. Durin...

Consult the pubmed abstract To read more about “Phenylketonuria” Orphanet J Rare Dis . 2021 Jan 18;16(1):35. (Source: OrhpaNews 10 May 2021)

The European Alliance for Newborn Screening for Spinal Muscular Atrophy, composed of European patient organisations, academics and the pharmaceutical industry, has published the whitepaper, entitled “Spinal muscular atrophy: screen at birth, save lives”. This whitepaper aims to call all Eur...