The landscape for rare diseases in 2024
By definition, rare diseases affect a small number of individuals (fewer than 1 in 2000 people in any WHO region); yet, with more than 7000 types of rare disease in existence, the burden worldwide is not insignificant. To date, approximately 300 million people live with rare diseases. Such individuals are often a neglected and marginalised group, especially those in low-income and middle-income countries. Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood; about 95% lack approved treatments; the average time for an accurate diagnosis is 4·8 years; and about 30% of children with a rare disease die before age 5 years. In 2021, the UN embraced the first resolution on addressing the challenges of persons living with a rare disease and their families, calling on Member States to provide access to safe and affordable health services, particularly at the primary-care level. As we approach Rare Disease Day on Feb 29, what does the current landscape look like for people living with rare diseases?