Pathology

Rare events

Disease

Mathematics

Bioinformatics

Biology

Statistics

Intensive care medicine

Rare disease

Medicine

Orphan drug

Nature Reviews Drug Discovery

A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases. A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.

How many rare diseases are there?