John A. McGrath

TL;DR: Identification of pathogenetic mutations in the ANTXR2 gene makes DNA‐based prenatal diagnosis feasible for subsequent pregnancies and improves the prospects of effective treatments for ISH and JHF.

TL;DR: Inherited skin disorders, a group of genetic skin diseases in which single- or multiple-gene defects account for a wide spectrum of clinical phenotypes with significant physical and psychosocial impact, are good candidates for gene therapy, given that most autosomal recessive skin disorders result in loss of function, deficiency or absence of the wild-type protein.

TL;DR: This case represents the first example of DNA‐based prenatal diagnosis for RDEB in Thailand and illustrates the benefits for patients in establishing international links with diagnostic centres with technological expertise that is not widely available in certain countries.

TL;DR: Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc for the AE resulted in rapid amelioration of the skin findings, demonstrating the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics‐guided treatment.

TL;DR: Demonstration of mutations in the OSMR gene provides new insight into mechanisms of itch and apoptosis in human skin and there is clinical and genetic heterogeneity and variable clinical penetrance in familial PLCA.