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It’s rare for a single paper to claim to have not only discovered a new mechanism for disease but also a means of preventing it. A paper from Sydney, Australia, which at first sight appears somewhat obscure and theoretical, does just that (Shi H et al. NEJM 2017. doi: 10.1056/NEJMoa1616361). It combines genetic studies on four families with mouse model experiments, to come up with a hypothesis that many congenital malformations are linked to deficiency of Nicotinamide Adenine Dinucleotide (NAD) in pregnancy. The families, 3 of which were consanguineous, all …
Competing interests None declared.
Provenance and peer review Commissioned; internally peer reviewed.