Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.

Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively. Recently, promising proof-of-principle has been shown for antisense oligonucleotide (AON)-mediated exon skipping as a therapeutic approach for DEB.

Maternal homocysteine and related B vitamins as risk factors for low birthweight.

Objective: We designed a large prospective study to explore the relationship between maternal homocysteine concentrations and related B vitamins and birthweight.

Study Design: Blood was sampled from pregnant women at 30-34 weeks of gestation and their newborn infants (n = 366).

Results: Concentrations of all analytes were higher in umbilical cord compared with maternal samples.