Posted By: HGG Advances HGGA: What motivated you to start working on this project? Anne Gregor (AG): I first became interested in FBXO11, when we and others could link variants in this gene to a variable neurodevelopmental disorder (NDD). As not much was known about neuronal functions of the ubiquitin ligase complex protein FBXO11 and... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? JM: From the perspective of developmental biology and physiology, I found it fascinating that a gene important for mitochondrial complex IV function could be deleted in its entirety. Yet, more important for me was the opportunity to help a family arrive... Read More
Posted By: HGG Advances HGGA: what motivated you to start working on this project MB: Being an early-stage investigator is challenging. You enter a new department with existing models of success and expectations of establishing an independent lab. However, having completed my graduate and post-graduate training in highly collaborative environments, e.g., working closely with analysis... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? MG: The pathogenesis of ankylosing spondylitis (AS) remains poorly understood. In other immune-mediated diseases, integrating genome-wide association studies with epigenomics and transcriptomics has successfully identified key pathogenic cell types, such as T cells in rheumatoid arthritis and B cells in systemic... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SG: There has been a lot of work in recent years on developing polygenic scores (PGS) for multi-ancestry populations, but most studies have focused on populations genetically similar to European and East Asian reference groups. In this project, we utilize data... Read More