Inherited ichthyosis as a paradigm of rare skin disorders: genomic medicine, pathogenesis, and management

Great advances have been made in the field of heritable skin disorders using next-generation sequencing (NGS) technologies (i.e., whole-genome sequencing, whole-exome sequencing, whole-transcriptome sequencing, and disease-targeted multi-gene panels). When NGS first became available, the cost and lack of access to these technologies were limiting factors, however, with decreasing sequencing costs and the expanding knowledge base of genetic skin diseases, fundamental awareness of NGS has become prudent.

Source: Journal of the American Academy of Dermatology - August 9, 2022 Category: Dermatology Authors: Jason S. Park, Amir Hossein Saeidian, Leila Youssefian, Katherine E. Kondratuk, Howard B. Pride, Hassan Vahidnezhad, Jouni Uitto Source Type: research