Research for many rare diseases suffers because there isn’t a disease-wide plan and a “quarterback” to lead it, Simoncelli says.
For the last 10 months Fajgenbaum’s group and the CZI have been working together to help rare-disease communities bring together patients, researchers and doctors to get the right research done as fast as possible.
Fajgenbaum hopes his story offers lessons, far beyond medicine, about what people can do when they’re backed against a wall.
There are 7,000 rare diseases affecting 400 million people around the world, according to Global Genes. And just 5% have an FDA-approved treatment.
Fajgenbaum says there’s tremendous opportunity for him and others to change that.
“Because so little time and money has been invested in these diseases, there’s a lot of low-hanging fruit,” he says.
Why not to contact this guy ?