Rare Disease Day: national genomic medicine programs and recent research

A rare disease is one that affects fewer than 1 in 2000 people. Currently, there are more than 7000 rare diseases globally, affecting 300 million people. Rare Disease Day takes place on the 28 of February every year and is an opportunity to raise awareness, support research and advocate for equitable healthcare. Most rare diseases are genetic with relatively common symptoms, making diagnosing and treating rare diseases a challenge. As such, many countries have set up national genomic medicine programs to help understand these complex genetic conditions. Here, we explore three wide-reaching national programs that have caught our eye as...