About Rare diseases

Although by definition rare diseases do not occur frequently, they can seriously affect the lives of those suffering from them, many of them children. There are approximately 7000 rare diseases known today, spanning from cystic fibrosis and Huntington’s disease to peripheral neuropathies.

The developments in rare disease research over the past few years have contributed to improved treatments and to greatly increasing the quality of life of people affected by rare conditions. There is still a strong need for further research into the development of new therapies for, and better diagnosis of, rare diseases.

With a collection on Rare Diseases, F1000Research encourages all researchers and clinicians to share their findings, data, opinions and perspectives on all areas relating to rare diseases.

Curated by Sean Ekins, who works with several rare disease foundations, this collection covers a variety of topics, such as rare disease awareness, orphan drug development, patient treatment and management, genetics of rare diseases and individual rare disease clinical studies. 

Read the Editorial by Sean Ekins for more details.