At The Intersection Of Rare Disease And Precision Medicine: A Road To Growth

By Adam Bloomfield

Rare diseases have a low prevalence, but their societal burden and impact are significant. Advancements in genomic sequencing tools and technologies have driven an increase in the identification of rare disorders, with one out of every 10 people living with one of the more than 10,000 diseases characterized as rare.

Research studies of rare diseases over the years have led to the discovery and development of medical breakthroughs, from allogeneic stem cell transplantation to gene therapy, which has paved the way for new therapeutic options for more common diseases. In rare genetic disorders, where the root molecular cause is a pathogenic genotype, researchers think it could be easier to apply precision medicine principles than in diseases where the mechanisms of pathogenesis are more complex and heterogeneous.

Discover how precision medicine also has the potential to reduce the time to diagnose rare conditions—which currently takes an average of 4-9 years—enabling identification and intervention at earlier stages of the disease.