Why Rare Diseases Matter in Drug Discovery

Rare diseases affect over 300 million patients worldwide, yet most lack effective treatments. While certain rare diseases stem from a single gene mutation, many patients remain undiagnosed because the underlying biology involves complex interactions between multiple genetic variants. Identifying these relationships is extremely challenging due to the sequence alignment and combinatorial mutation problem. 

In genomic research, comparing genomes requires evaluating billions of base pairs across thousands of potential mutations. Traditional algorithms often rely on approximations and heuristics that can overlook subtle interactions between genes. 

As a result, many rare disease patients remain undiagnosed, therapeutic development is delayed, and drug discovery timelines can extend for decades. The challenge in advancing rare disease treatment is fundamentally computational.