Why You Should Care about Rare Disease Day
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.
#EveryDiagnosisMatters #RareDiseaseDay2020
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4 年Thank you for your dedication! ??
Disability Superpowers with AI and NYC Real Estate
4 年I have one!
Freelance Video Editor Corporate, Film Festival, etc,. Also hunting for gigs and old edit gear.
4 年Thanks. A friend of mine has Kennedy's disease and we hope that a cure can be found soon
General Manager at Idea Factor Inc.
4 年Fantastic! We knew our son had a rare metabolic condition (GA Type III) but did not know how rare it was until I reached out to CORD and NORD and was told they had never heard of it! That was 20 years ago, thankfully he had the best geneticist at the Hospital for Sick Kids who reached out to her colleagues around the world and came up with a medicine regime that he takes on a daily basis. I am happy to say that he is thriving today because of her and her succeeding colleagues at the Hospital for Sick Children in Toronto. I hope other parents will get their child's diagnosis, as well as a way for their child to live with the disease/disorder sooner than later.
Program Leadership, Healthcare Quality Expert, Global and Planetary Health, Pharmaceuticals, Strategic Partnerships, Clinical Specialist, Registered Nurse
4 年I very much admire these families!?