The Past and Future of Rare Skin Disease Research and Therapy

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Abstract

Launch of the European Society for Dermatological Research (ESDR) in 1970 coincided with genetics also entering a new era. Arriving alongside new models of DNA structure and the discovery of restriction endonucleases, the ESDR has parallel-tracked 50 years of major developments in genomics, technological innovations, and big data. Patients with rare Mendelian genetic skin diseases have witnessed the discovery of causative genes and pathogenic variants, improved genetic counseling, and the advent of prenatal diagnosis. Translational research has also heralded early phase clinical trials of gene, cell, and protein therapies, as well as enhanced disease models, mechanism-based therapies, and impactful clinical progress.

Original languageEnglish
Pages (from-to)1010-1014
Number of pages5
JournalJournal of Investigative Dermatology
Volume142
Issue number4
Early online date5 Feb 2022
DOIs
Publication statusPublished - Apr 2022

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