Findacure Founder Leads Way on Declaring Rare Diseases as Fundamental Diseases

This came out of my personal experience of trying to find a cure for Black Bone Disease (also called Alkaptonuria), the rare genetic disease affecting my children. Ten years of fighting to raise funds, setting up an international research consortium and organising trials made me acutely aware of the uphill struggle facing all patients with such neglected diseases.

With desperate parents of young patients frequently contacting me for advice, I realised that something had to be done on a more systematic and larger scale to help them – something that would provide them with the skills to overcome the hurdles they all face.

Because all patient groups face similar challenges: where do I find funds for research? How do I create partnerships with scientists and industry? How do I develop a treatment before my children get too sick, disabled or die?

Then there’s the lack of interest rare disease patients face. As soon as you place the term ‘rare’ in front of something, you put it right to the bottom of the priority list.

Yet it’s been known for centuries that the study of rare diseases is fundamental to understanding human biology and common diseases. Statins – commonly prescribed to treat high cholesterol – were developed thanks to research carried out into an ultra rare disease.

That’s why we are calling these diseases ‘fundamental diseases‘. A disease such as Black Bone Disease isn’t just a medical curiosity. Our researchers have shown that it’s an excellent model for understanding osteoarthritis, a very common disease.

Will you support Findacure as we help patients with fundamental diseases?

If so, please contribute here.

(One of our donors will match-fund everything we raise: for each dollar donated, he will put in an extra dollar – hence doubling all donations.)

Please share widely on your networks. There are thousands of fundamental diseases affecting millions of patients worldwide. We need to get the message out and help them.

Support our fundraising campaign here.

Dr Nicolas Sireau