Emerging Diseases

Diseases that are in the process of being officially classified.

As more information becomes available about rare diseases, the number of officially recognized rare diseases increases. Up until 2020, the estimate of the number of individual rare diseases was often cited as between 5,000 and 8,000, depending on the source.

However, the official number of rare diseases is now believed to be more than 10,000.[1] There are also some rare diseases which currently may not have a formal name; these diseases may typically be referred to by a variant in a gene. We acknowledge these rare and ultra-rare diseases as “emerging diseases” and strongly advocate for them to be recognized, counted and supported.

1. Haendel, M, Vasilevsky, N, Unni, D, Bologa, C, Harris, N, Rehm, H, Hamosh, A, Baynam, G, Groza, T McMurry, J, Dawkins, H, Rath, A, Thaxon, C, Bocci, G, Joachimiak, MP, Köhler, S, Robinson, PN, Mungall, C, & Oprea TI. (2020) How many rare diseases are there? Nat Rev Drug Discov. 19(2): 77–78. https://doi.org/10.1038%2Fd41573-019-00180-y

It may take several years for a rare disease to be officially classified in medical databases and be given a formal disease name.  While these emerging diseases are going through this process, it is important that we acknowledge the debilitating impacts they have on patients, families and care partners. Global Genes champions all rare diseases and for this reason, we have created the list of emerging diseases below. 

Emerging Disease Name

Disease Associated Gene

Disease name disease name

gene gene gene gene

Disease name disease name

gene gene gene gene

Emerging Disease NameDisease-Associated Gene

If you don’t see a condition listed above, please check the RARE List.