Posted By: HGG Advances HGGA: What motivated you to start working on this project? AB: Clinical manifestations among C. trachomatis patients are highly variable. For example, up to 80% of C. trachomatis genital infections are asymptomatic and if left untreated, can lead to severe clinical outcomes such as pelvic inflammatory disease, ectopic pregnancies, and infertility.... Read More
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? 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
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SAC: I’ve always been fascinated by the human brain, its intricate functioning, the emotional patterns that regulate it, and its ways of encoding reality. I am particularly intrigued by the challenges and limitations faced by individuals who don’t fit within neuronormativity.... Read More
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