HGGA

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?  ML: I was serendipitously connected with my mentor who has been working in this space for many years. When I started my postdoc, which was a step change from the work I had done in my PhD, it was the first... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  OB: Most genetic association studies are currently focusing on European populations, which creates disparities with other under-represented populations, especially when translating these studies into the clinic. Polygenic predictions are based on these studies and represent an important component of precision medicine.... 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