Rare variant interpretation in Latin America

In this video, Dr Claudia Gonzaga-Jauregui from the Universidad Nacional Autónoma de Mexico (UNAM) narrates how information from the Puerto Rican population allowed for the discovery of the gene responsible for Steel Syndrome. Steel Syndrome is a rare orthopaedic disorder that primarily affects individuals of Puerto Rican ancestry.

Initially described by Dr Howard Steel in 1993, further studies confirmed this variant as a founder mutation in the Puerto Rican population. This discovery could not have been made without data from the Puerto Rican population. These findings have then been able to be used to provide a diagnosis for a family that previously had no diagnosis. Learn more about the approaches applied to this novel gene discovery.