Posted By: HGG Advances HGGA: What motivated you to start working on this project? NU: Despite being first described over 100 years ago, mutations underlying hepatic hemangiomas (HHs) had not been identified. Mutations associated with cutaneous venous malformations (CVMs) have been found, but a significant proportion still have no genetic explanation. We also found it... 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
Posted By: HGG Advances HGGA: What motivated you to start working on this project? RMS: The traditional approach to using model organisms is to introduce disease-associated variants and test for disease mechanisms. We wanted to try to flip this paradigm around, using what we knew about the properties of pathogenic aminoacyl-tRNA synthetase (ARS) variants to... Read More