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Why are fundamental diseases important to medicine?

Why are fundamental diseases important to medicine?

There is no better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease.”

Dr William Harvey is most well-known for the discovery of the circulation of blood in the 17th century. However, his above quote proposed a radical idea that to fully understand biology and many common diseases, we need to look at the rare and extreme forms of diseases.

Over 300 years later, medicine still hasn’t completely adopted this principle. There are exceptions, such as Sir Archibald Garrod, an Edwardian doctor whose research into four rare metabolic diseases (alkaptonuria, cystinuria, pentosuria and albinism) lead him to realise they were inherited, and inspired the understanding that diseases could be genetic. This fundamental knowledge is incredible, it has revolutionised modern medicine, and this discovery of genetic inheritance is all due to the study of fundamental diseases.

Fundamental diseases are those which manifest themselves as extreme and rare genetic disorders, which offer a unique opportunity to better understand other diseases, including many common conditions.

Due to their rarity, fundamental diseases have largely been ignored.

So, why are fundamental diseases important to medicine?

Take the drug statins for example. Statins were originally developed as a result of research into the mechanisms of an ultra-rare disease called familial hypercholesterolemia. Statins are now the most common treatment for high cholesterol, prescribed to millions of people.

Redefining extreme and rare diseases as ‘fundamental’ holds the potential to unlock new insights and discover treatments for conditions from which so many people suffer.

Another great example of the possible use of fundamental disease research is in insulin resistance, when the body becomes less responsive to insulin, and therefore unable to accurately control its sugar levels. It is very common problem and plays a central role in the development of type 2 diabetes. It is most commonly seen in people with obesity, but also occurs in an unusually severe form in patients with certain rare genetic diseases, such as Berardinelli-Seip Syndrome. The study of these fundamental diseases may lead to new treatment options for type 2 diabetes, one of the fastest growing diseases in the world.

Despite the medical importance of these fundamental diseases, they receive little attention from funders, and so there is often limited research for each disease. Potentially, this is a massive missed opportunity to understand not only the biology of the fundamental disease, but also its connections to more common diseases.

It is also important to remember that fundamental diseases affect people. The patients themselves are often overlooked, isolated, and neglected due to the rarity of their conditions. Many go through life without ever meeting another person with the same condition. If patient groups are set up, they usually only offer basic support and do not have the time to expand the organisation. However, for fundamental diseases, the patient groups are a vital partner. Research from Rare Disease UK shows that patient groups act as a vital source of information and support for patients.  They are also the first port of call for pharmaceutical companies and academics preparing clinical trials for possible treatments. Usually there is no support to help patients learn how to interact with industry, academia and hospitals in order to develop plans for treatments.

So what can be done?

We have set up Findacure, a new charity to build a movement to promote the search and development of treatments and potentially cures for fundamental diseases, on behalf of patients and those who care for them. It has three primary aims:

1. Empowering patient groups to become effective campaigners for change.
2. Facilitating patient groups to drive the development of treatments for fundamental diseases.
3. Campaigning for a receptive research environment that recognises the pivotal importance of fundamental diseases.

Findacure will empower the patient sector to take control of their disease area and to ensure that groups can meet the challenges facing them. Through developing their existing networks, we will enable patient groups to stimulate pre-clinical research, identify drug targets and push towards clinical trials.

To achieve this goal, Findacure is running a series of training workshops for patient groups, starting from the basics. The first event will be held in London on 24 January 2014, looking at methods of funding available for small patient organisations. It will include an overview of the major UK funders, cases studies from successful groups and talks from expert fundraisers. The workshop is aimed at small groups, and so UK travel expenses will be covered by Findacure and there is no registration charge. We would recommend the workshop to any small patient group looking to develop, increasing both their ability to support patients and the scope of their research.

For further information or to book your place, please contact Flóra (


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