Published in Nature Metabolism · View the paper (DOI)
Scientists have discovered over a dozen gene variants causing the rare eye disease MacTel, which leads to progressive retinal degeneration. The study identifies PHGDH as a key enzyme essential for serine production, whose partial loss contributes to MacTel's development.
Coverage from 2 institutions
- New genetic links found to rare eye disease Scripps Research Institute · Mar 22, 2021 · first to report
- Gene discovery confirms role of serine deficiency in rare eye disease Columbia University Irving Medical Center · Mar 25, 2021