7. Homozygous Familial
Hypercholesterolaemia
Heart Disease
The 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.
9. Congenital Generalised
Lipodystrophy
Type II Diabetes
Latest research into congenital generalised lipodystrophy and its extreme form of insulin resistance is helping to
understand Type 2 diabetes.
10. Fundamental diseases are extreme and rare genetic disorders that offer a unique
opportunity to better understand human physiology and other more common
conditions.
11. 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, 1657
Discovered the circulation of blood in 1628
12. 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 Garrod
First identified four metabolic diseases as
‘inherited’
13. 350 million
‘What we learn from rare
disorders often has
profound consequences
for our understanding of
more common
conditions.’
- Francis Collins
Director of the National
Institutes of Health