AI and genomics bring new hope to rare disease patients

LIVING with a rare disease often means years of uncertainty, misdiagnosis, and limited treatment options.

- By Rory Visco

But advances in artificial intelligence (AI) and cloud computing are beginning to change that, enabling faster diagnosis and opening new pathways for research and care.

The World Health Organization defines a rare disease as one that affects fewer than one in 2,000 people. While individually uncommon, these conditions collectively represent a significant global health burden.

More than 300 million people worldwide are estimated to be living with one of roughly 7,000 known rare diseases, surpassing the number of cancer cases recorded globally over the past five years.

Despite this, rare diseases have historically received limited attention in research and funding, largely because each condition affects a small population.

Dr. Rowland Illing, Chief Medical Officer and Director of Global Healthcare and Nonprofits at Amazon Web Services (AWS), described this imbalance as the “rare disease paradox’—where individually rare conditions collectively affect millions but remain overlooked.

The long road to diagnosis