Pharmacogenomics and Rare Diseases: Bringing Hope to Orphan Drug Development

Rare diseases are a significant global health challenge, affecting millions worldwide. In the US, 30 million people, and in the EU, 36 million, face over 7,000 rare diseases, with 80% being genetic1. The impact is especially harsh on children, with half of those affected being young. Sadly, 3 out of 10 children with a rare disease do not survive beyond their fifth birthday1.

The field of pharmacogenomics offers hope in rare disease research and treatment. With over 80% of rare diseases being genetically-based, the Human Genome Project's completion in 2003 was a crucial step forward2. This convergence of genetics and pharmacology has opened new avenues for orphan drug development, offering potential solutions to long-neglected conditions.
The economic and societal burden of rare diseases is immense. The average cost to society for 24 rare diseases in the US is $266,000 per patient per year, roughly 10 times higher than common diseases1....