Rare Diseases

What are Rare Diseases?

In the EU, a rare disease is defined as a condition that affects less than 1 in 2,000 people – but they come much less common than this! While Duchenne Muscular Dystrophy affects 2,500 people in the UK, Wolfram Syndrome affects a mere 100.

Over 7,000 rare diseases have been identified, 80% of which are genetic. While each disease has a small patient population, when combined they affect 3.5 million people across the UK! That’s 1 in 17 people living with a rare disease – far too big a problem to ignore.


Why Care About Rare?

As rare diseases are so uncommon, they tend to be overlooked by doctors, researchers, and the general public. This means that individuals do not get the support that they need. After facing a journey of repeated misdiagnoses, many will find that there is no treatment available, no research into their condition, and no national support group or charity. They simply have to go home and deal with it, where their local GP may never have even heard the name of their condition.

As a result, many struggle to keep their jobs while their health deteriorates, or in the case of children, many have to drop out of education and are life-limited.



But when all these individuals are combined, rare diseases become a huge issue, affecting 3.5 million people affect in the UK. With such huge numbers comes huge potential, and Findacure is actively working to ensure this potential does not go to waste. Through our projects we are building a rare disease community which has the skills and knowledge needed to better support patients, to campaign for equal opportunities, and to drive research. We have seen for ourselves how a unified rare disease community works much more effectively than the sum of its parts.


Rare is Fundamental

Research into rare diseases is also important because it helps us better understand the fundamentals of modern science and medicine. Rare disease research, and the empowerment of rare disease patients, has the ability to benefit the health of us all in three main ways:

Findacure work to encourage collaborative research into rare diseases by running events, such as our scientific conference and networking events, which bring patients, clinicians, researchers, and industry together. We are also developing our rare disease drug repurposing social impact bond, as a way to fund clinical trials that find new uses for old drugs in the treatment of rare diseases.


Fundamental Diseases

There are many instances where improved scientific knowledge of a rare disease has acted as a gateway to understanding, or even treating, much more common conditions. We call such rare conditions fundamental diseases.

Recognising the connections between rare and common conditions is crucial for both scientific advancement, and the promotion of rare disease research. If diseases share similar underlying mechanisms they are likely to benefit from similar treatments. For pharmaceutical companies, rare diseases linked to common conditions can often act as a gateway into a large market, and this can bring much needed investment into rare disease research.

Case study: Familial Hypercholesterolemia (FH)

FH is a rare genetic illness that leads to a build-up of bad cholesterol in the blood. This clogs blood vessels, and increases the risk of a heart attack.

In FH patients the system that monitors and breaks down the bad cholesterol is damaged, meaning that less is removed from the blood. Normally, the breakdown of cholesterol also tells the body to slow its natural cholesterol production. As FH patients don’t break down the bad cholesterol, cholesterol keeps being produced and keeps building up.

By studying FH, scientists gained a better understanding of how cholesterol is managed in the body. This led to the discovery of statins – drugs that slow the body’s natural cholesterol production and increase the removal of bad cholesterol from the blood. While this can help FH patients, it has also helped millions of people who have high cholesterol and are at risk of heart disease. Therefore FH is a fundamental disease.

Other examples

Congenital Leptin Deficiency
This ultra-rare genetic disease is characterised by severe early-onset obesity and marked over-eating. The study of this disease is leading to the discovery of new obesity genes.

Alkaptonuria
A rare genetic disease also called Black Bone Disease. It is a model for osteoarthritis, a disease affecting millions of people.

Fibrodysplasia Ossificans Progressiva (FOP)
A rare disease, known as Stone Man Syndrome, where the body slowly turns muscle to bone. It has boosted knowledge of the disease heterotopic ossification, when bone forms in the soft tissues and is common following joint replacement surgery.

Congenital Generalised Lipodystrophy (CGL)
This rare genetic disorder is characterised by near complete absence of body fat, high levels of fats in the bloodstream and insulin resistance. Studying this extreme form of insulin resistance is helping to understand type 2 diabetes.