A new article published in the American Journal of Human Genetics aims to establish a framework for optimising the timing of screening for treatable genetic disorders. The authors identify four points at which critical decisions might be made: prenatal, the newborn period, childhood, and adulthood. ...

This month, the National Organization for Rare Disorders (NORD) is joining the larger United States’ rare disease community in celebrating the 40th anniversary of the Orphan Drug Act (ODA). Signed into law in 1983, the ODA marked one of the first major victories for rare disease advocates. It ...

On 10 November 2022, Together4RD organised an event at the European Parliament to launch their main policy asks to foster collaboration between European Reference Networks (ERNs) and private partners. The event brought together members of the initiative, including ERNs, with stakeholders from the ra...

The state of Michigan has agreed to destroy more than 3 million dried blood spots taken from babies and kept in storage, a partial settlement in an ongoing lawsuit over consent and privacy in the digital age. At the state’s direction, hospitals have routinely pricked the heels of newborns to d...

ISNS, together with IPOPI and ESID founding organisation of Screen4Rare, is pleased to announce Screen4Rare’s launch of the International Neonatal Screening Day (ISND) website (also: INSD2022) We hope you will join INSD2022, this global effort to celebrate, raise awareness, inspire others and ...