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Aussie genetic discovery may help prevent or delay debilitating eye disease - World News

2021-03-17 10:05:57 GMT2021-03-17 18:05:57(Beijing Time) Xinhua English SYDNEY, March 17 (Xinhua) A research by Australia s Walter and Eliza Hall Institute of Medical Research (WEHI) found a genetic defect might hold the key to preventing or delaying the onset of a debilitating eye disease that could lead to vision loss and blindness. Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. Patients with MacTel may have slow loss of vision, distorted vision and trouble reading. Because early signs of the disorder are subtle, it is difficult to diagnose the disease. Researchers from Melbourne-based WEHI conducted a genome-wide association study on 1,067 MacTel patients and 3,799 controls. They have identified an additional seven regions in the human genome that increase the risk of developing MacTel, including a rare DNA mutation in the PHGDH gene, which may help clinicians to better diagnose and treat the disease, pr

Meet Rebecca Delconte, Winner of the 2021-2022 Parker Institute Postdoctoral Fellowship

Rebecca Delconte Rebecca Delconte is a postdoctoral fellow working in the lab of immunologist Joseph Sun in the Sloan Kettering Institute. She is the recipient of the 2021-2022 Parker Institute for Cancer Immunotherapy at MSK Postdoctoral Fellowship, which will provide two years of financial support. Dr. Delconte’s research focuses on the metabolic pathways of immune cells called natural killer (NK) cells, which play an important role in controlling cancer. In an interview in March 2021, she spoke about what motivates her as a scientist and how she came to her specific research interests. When did you know you wanted to be a scientist?

Unravelling the mysteries of long COVID

Unravelling the mysteries of long COVID updated 4 Share Print text only ABC News: Daniel Fermer) Three previously healthy people in their 30s are still dealing with symptoms months after being infected with COVID-19. As Australia rolls out its vaccination program, sufferers are calling for more recognition of this emerging condition. It s no life, says Sarah Hughes. Being sick and having pain every day at the age of 34, when this should be the prime of my life, is just very hard to deal with. And I think that s probably what causes me the most depression out of all of this. It has been eight months since Sarah s role as a senior nurse in aged care brought her into the thick of Melbourne s second wave of COVID-19.

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