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
By Mike Bamshad, MD, HGG Advances Editor-in-Chief and Jessica Chong, PhD, HGG Advances Deputy Editor This year marks the 5th anniversary of ASHG’s open-access journal, Human Genetics and Genomics Advances (HGG Advances). Over the past five years, HGG Advances has established itself as a leading platform for scientists to share their discoveries. We extend our... 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