WEHI researchers have identified an additional seven regions in the human genome that increase the risk of developing MacTel (macular telangiectasia type 2), including a rare DNA mutation in the PHGDH gene, which will help clinicians to better diagnose and treat it.
Led by WEHI Professor Melanie Bahlo in conjunction with Dr Brendan Ansell, Dr Victoria Jackson and Dr Roberto Bonelli and published in Communications Biology, the research provides a new genetic risk calculator for predicting retinal disorders.