When a six-year old girl presented with blindness, ataxia, seizures, and developmental regression, a team of clinicians and researchers at Boston Children’s Hospital sequenced her whole genome. They were not only able to diagnose her with a rare, neurodegenerative condition known as CLN7, but also develop a splice-modulating antisense oligonucleotide drug based on the mutation’s unique profile. In other words, a custom therapy that used genomic insights to tailor treatment specific to this one girl’s CLN7 disease.
Isn’t this the treatment that every child, every person with a rare disease deserves? But today, rare disease patients can go years and years without a diagnosis. There are over 300 million rare disease patients around the world, and it is estimated that 1 in 20 people will live with a rare disease at some point in their life, and yet many of these patients will never know the name of their condition, or be connected to others living with the same challenges. These children, parents, and friends deserve a chance at a fuller, healthier life. We, as a community, can do better.
Under the excellent care of the Boston Children’s Hospital for the last year, the young patient with CLN7 has responded positively, with a reduction in seizures and no serious adverse events. This is just the beginning of precision medicine. Diagnosing rare conditions can lead a change in patient management in half of cases. And we believe that by increasing awareness and access to whole-genome sequencing, diagnostic success rates could improve from just a few percent to up to 70%.
To all the rare disease patients and their families who are searching for a diagnosis, a cure, or a community– you are not alone. Rare is many, rare is strong, and rare is proud. At Illumina, we believe it is a moral imperative to help increase access to whole-genome sequencing so we can begin delivering on the promise of precision medicine around the globe.