Posted By: HGG Advances HGGA: What motivated you to start working on this project? NG: Although monogenic genetic disorders are individually rare, collectively they affect up to 1 in 20 people in the global population. Over 700 monogenic disorders—including many inherited metabolic disorders, which I study and treat clinically—now have targeted treatments. As more therapies... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? MG: My interest in this project started with an evolutionary question: why is the prevalence of some so-called ‘unfit’ traits sometimes higher than expected? Nearly 15% of human couples ask for medical assistance to achieve a healthy pregnancy, and many will... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? DC: I have a long-standing interest in studying variant effects on gene expression and protein function and in unravelling the molecular mechanisms of disease-associated variants. As part of my PhD project, I developed the SpliceAI-10k calculator, a SpliceAI-based splicing prediction tool... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SP: I always had an interest in the field of medical genetics, and oligogenic diseases specifically intrigue me because of their challenging nature, as even after years of research since their first official reporting in the early 1990s, our knowledge on... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? CC: I would say the project started with the first author of the paper, Xin Sheng, who is a staff scientist here in the Center for Genetic Epidemiology as USC. It was really her unrelentless tenacity to track down a quality... Read More