As the mother of a child with a rare disorder, I’ve watched with interest and admiration as this community has broken one barrier after another—innovating, advocating, collaborating, fundraising, organizing—all with one unwavering goal, to stop or reverse the suffering inflicted by a rare disease on someone they love.
The fact that rare disease communities have been responsible for the deconstruction and reinvention of many aspects of our healthcare system along the way is not just a coincidence. Progress in treating rare diseases has been facilitated by:
- Quantum leaps in our knowledge of genetics and epigenetics
- Development of new technologies that handle large data sets with speed and agility
- Rapid growth in the use of social media, apps and online tools to improve health and quality of life
Paving the Way for Precision Medicine
Those same forces are responsible for the sea change that is taking place in medicine in general. When President Obama announced his Precision Medicine Initiative, budgeting $130 million to establish a one-million strong database of peoples’ genetics, health, and lifestyle data at the National Institutes of Health (NIH) and scale up efforts to identify genomic drivers in cancer and insure data security, he was publicly acknowledging what people in the trenches already knew, that the future of medicine will be targeted treatments for subpopulations. Read More