If a non-specialist is asked to name an autosomal recessive disease, they are likely to think of only a handful, such as sickle cell disease and cystic fibrosis. However, this belies the fact that there are thousands of autosomal recessive diseases, most of which are exceedingly rare. Although it may be obvious to justify the effort to link (map) each of these diseases to a specific gene for the purpose of diagnosis, most people are unaware that this effort has a much broader appeal because these very rare diseases may impact them directly. How?
https://www.nature.com/articles/s41576-021-00433-w
Homozygosity mapping: a game-changer for autosomal recessive diseases
