Posted By: HGG Advances HGGA: What motivated you to start working on this project? GP: Non-alcoholic fatty liver disease is a silent epidemic, and 25% of Americans are affected by it. There are currently not any medications approved for this disease. This is partly because we poorly understand the genetic mechanisms associated with this disease.... Read More
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