Fundamental Disease:Why We Should Care About The Rare

- Flóra Raffai Project Manager at Findacure

6000 - 8000 Identified rare diseases

6000 - 8000

6% Of UK population living with a rare disease

6000 - 8000

6% 3.5 million

Living in the UK with a rare disease

6000 - 8000

350 million6% 3.5

millionPeople

worldwide are living with a rare

disease

Homozygous Familial Hypercholesterolaemia

An ultra-rare genetic condition that causes unusually high cholesterol levels from birth, resulting in early onset of heart disease and high risk of heart attacks

Homozygous Familial Hypercholesterolaemia

Heart DiseaseThe study of homozygous familial hypercholesterolaemia led to a better understanding of the role of cholesterol in

the development of heart disease. This in turn led to the development of the drug Statins, now used to treat millions worldwide for high cholesterol levels.

Congenital Generalised Lipodystrophy

An ultra-rare condition causing abnormal build-up of fat in the liver and muscles, as well as extreme

insulin resistance.

Congenital Generalised Lipodystrophy

Type II DiabetesLatest research into congenital generalised lipodystrophy and its extreme form of insulin resistance is helping to

understand Type 2 diabetes.

Fundamental diseases are extreme and rare genetic disorders that offer a unique opportunity to better understand human physiology and other more common

conditions.

350 million

‘Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any 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.’

- William Harvey, 1657Discovered the circulation of blood in 1628

350 million

‘The study of nature’s experiments is of special value; and many lessons which rare maladies can teach could hardly be learned in other ways.’

- Sir Archibald GarrodFirst identified four metabolic diseases as

‘inherited’

350 million

‘What we learn from rare disorders often has profound consequences for our understanding of more common conditions.’

- Francis CollinsDirector of the National

Institutes of Health

350 million

Findacure: The Fundamental Diseases

Partnership is continuing the narrative with the

concept of ‘fundamental diseases’