Milan ESHG 2025: Genomic and Structural Insights into Hemophilia B

We have attended the 2025 European Human Genetics Conference (ESHG) in Milan, Italy, to share our approaches to studying Hemophilia B. The ESHG annual meeting is one of the most significant global gatherings for human genetics and genomics, making it an ideal venue to discuss our specific investigations into Coagulation Factor 9.

These projects represent a collaborative effort at University College London (UCL), we gave two presentations detailing different analytical perspectives on the disease. For the first presentation, we shared a combined genomic and structural analysis providing enhanced insights into the molecular mechanisms of Hemophilia B. This work focuses on translating genetic variant data into physical, structural consequences at the protein level to better understand functional disruption.

The second presentation focused on the evolutionary and statistical dimensions of the protein. We detailed how kernel regression and the analysis of evolutionary amino acid varieties reveal extensive nodes of Coagulation Factor 9 variants. This evolutionary profiling is critical for identifying structural constraints directly linked to the development and severity of Hemophilia B.

Sharing these findings in Milan allowed us to engage with leading international geneticists.