Rare diseases, by the US definition, are diseases that affect 1 in 1,500 people. However, according to the NIH there are about 6,000 to 7,000 different types of rare diseases, affecting 25 to 30 million Americans. In the UK, there are about 3.5 million people who have rare diseases.
That doesn’t sound rare at all. Findacure is an advocate for these sufferers. Findacure is a social enterprise started by Dr. Nick Sireau whose aim is to raise awareness and funding for these diseases. In fact, Findacure does not call these diseases rare; they call them fundamental.
The word rare has connotations of not being important, or being quirky, not affecting many people,” says Sireau. “People don’t feel affected by it. If it’s rare, why care? They are fundamental diseases: extreme and exceptional diseases that advance our understanding of medicine and help us discover potential new treatments. – Dr. Sireau, theguardian.com
Potential new treatments can come from anywhere including a drug, Nitisinone, that started out as as a weed killer. PKB had the pleasure of attending Findacure’s annual conference on drug repositioning where we learned that Nitisinone is now being trialed as a treatment for Alkaptonuria. In fact, drug repositioning or the application of known drugs or compounds to new areas such as fundamental diseases has huge potential. With low funding from the government and with pharmaceutical companies only producing about 20 to 30 new therapies per year, treatments for fundamental diseases could take a very long time.
Below are the presentations from the speakers of the conference. They go into great detail on how drug repositioning is advancing our understanding of the human body and what drugs are being tested.
Dr Bruce Bloom of Cures Within Reach
Prof Michael Briggs of Newcastle University
Dr Farid Khan of Protein Technologies