Rare Disease Day 2023: Advances in biotechnology and personalized medicines

By Dr Nicola Davies

Rare Disease Day is honored globally on February 28 each year. For a long time, the number of known rare diseases in the world was pegged between 6,000 and 8,000.

However, the RareX Power of Being Counted report published in June 2022 updated the figure to 10,867 identified rare diseases.1,2 As researchers develop more understanding of rare disease pathologies and genetic implications, there is significant progress in determining how patients are diagnosed, contributing to the increased number reported in the RareX study.2