genetic disorder

I keep coming across papers and other interesting info about genetics so I thought the topic might merit its own thread. Here's a first entry: Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes, 2026, Judd et al Web | DOI | PDF |...

Abstract: Rare defects in the promoter region of SLC16A1,the gene encoding monocarboxylate transporter 1 (MCT-1), result in exercise-induced hyperinsulinism. In this disorder inappropriate insulin secretion is triggered by anaerobic exercise with consequent hypoglycaemia. We describe the case...

Now published, see post #9. Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear...

BBC: Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases. Children, and their parents, had their genetic code - or DNA - analysed in the search for answers to their condition. There are thousands of different...