According to the European Organisation for Rare Disease, there are 20–30 million people in Europe alone who are affected by one of an estimated 6,000 rare diseases.
These include many rare genetic disorders, such as Duchenne’s muscular dystrophy, but also rare forms of cancer and auto-immune disease. The term rare can, therefore, be misleading as many diseases are entering this definition.
Rare disease is still considered a ‘Blue Ocean’ for biotech, so we decided to list a few of the diseases we’ve encountered – and who in Biotech we’ve found to be working on them.
This is not a comprehensive list (for sure), but just an example of some of the range of disease types and potential therapeutics out there.
Phenylketonuria (PKU) is a rare genetically conferred metabolic disease, where the amino acid phenylanaline (PHE) is not broken down properly. This leads to high PHE levels and causes a wide range of psychological symptoms,