Posted By: HGG Advances HGGA: What motivated you to start working on this project? Most genomic research has focused on individuals of European ancestry and has commonly used imputation panels that contain more European haplotypes, leading to poorer accuracy in other ancestries. In addition, standard panels are largely disease-agnostic, whereas ours is built from Alzheimer’s... Read More
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? 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? ZL: Mendelian randomization (MR) is a powerful and increasingly popular tool for understanding the causal relationships between complex traits and diseases, especially with the growing availability of GWAS summary statistics. However, MR consistently faces the challenge of horizontal pleiotropy. While there... Read More