Realizing the benefits of human genetics and genomics research for people everywhere.
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? 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
Posted By: HGG Advances HGGA: What motivated you to start working on this project? RO: Accurate variant interpretation is essential to both genome diagnostics and screening in medical genetics. Canonical splice site variants (CSSVs) are considered “null variants” (in the same category as nonsense, frameshift, initiation codon, single or multi-exon deletion variants) in a gene... Read More