Rare diseases might be called that, but they affect 3.5 million people in the UK alone. Most have no cure. Funding research into these diseases is challenging. But, when it does take place, it often leads to the discovery of potential treatments for chronic conditions from which many more people suffer.

Take statins: developed initially for a rare disease called familial hypercholesterolemia, they are now used widely to treat high cholesterol, which is one of the main risk factors for heart disease. Or bisphosphonates: a class of drugs developed initially for a rare disease called hypophosphatasia; they are now used extensively to treat common bone disorders such as osteoporosis.

Recognising the power of studying these rare diseases, Ashoka fellow Nick Sireau launched Findacure. Run as a social enterprise, the organization aims to raise awareness, fund research, unlock new insights and discover potential treatments. Rather than rare diseases, they speak of “fundamental diseases.”

“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.”

For Sireau, the quest into medical research started 12 years ago, with the birth of his first son. While changing his nappies one evening, Sireau and his wife noticed they were red-black. Alarmed, they rang the out-of-hours doctor, who said a red cabbage dinner had got into the breast milk and into the baby’s urine. Unimpressed, the couple consulted their GP and had a series of tests done. Within weeks, the real cause was confirmed: Sireau’s son suffered from a rare genetic disease called alkaptonuria (AKU).

Also called black bone disease, AKU is like an extreme form of osteoarthritis. As well as destroying joints and the spine, it also affects the heart, eyes, ears, kidneys and prostate. There is no approved cure. Three years after the diagnosis of their first-born, the Sireaus’ second son was born with AKU.

“We realized early on that only we could take on the task of finding a cure for our kids. There was no point waiting for others to do it,” says Sireau. To date, the AKU Society has raised over $23 million, set up the world’s first AKU clinical center, put together a consortium of 13 hospitals, biotechs, patient groups, universities and a pharma company and launched a clinical trial for nitisinone, a promising new treatment.

A serial social entrepreneur, Sireau quickly realised that he could use his AKU experience to find cures for other diseases. There are an estimated 6,000-8,000 rare diseases worldwide; barely 200 have treatments. Through Findacure, Sireau funds research into these diseases that he believes is fundamental to understanding human biology and common conditions.

The organization uses a venture philanthropy approach to select the best teams of scientists and finance them on a long-term basis. It also supports the growth of patient groups because “they are the most committed drivers of innovation in this field.”

Traditionally, drug development has been done by pharmaceutical companies which, as commercial entities, are profit driven. For some fundamental diseases, this has led to very high prices and for others a lack of interest.

Governments are trying to cut spending on medicines. Potential profits from fundamental disease drugs will in many cases be too small for pharmaceutical companies. Sireau and others fear that fundamental diseases will suffer as a result.

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