Connecting rare-to-common disease to therapies
The unexplained clinical variability between patients with the same rare pathogenic mutation has fueled decades of debate about how genetic variants contribute to a particular disease phenotype.
Advances in genomics and DNA sequencing technology, precision disease modeling, gene editing, and the application of artificial intelligence (AI) and machine learning (ML) to gene network analysis now enable us to elucidate underlying molecular perturbations that are shared between rare and common diseases.
Emerging evidence underscores the influence of rare variants on common disease risk, and conversely, the influence of background genetic features that contribute to rare disease outcomes.
These discoveries reveal the core biology shared between rare and common diseases and promise to deliver significant improvements to interventional approaches.
https://www.cell.com/trends/genetics/fulltext/S0168-9525(25)00110-6
