European Society of Human Genetics

Amongst the dynamic discussions and discoveries unfolding at the European Society of Human Genetics in Gothenburg is research from the Marfan Trust. Our Laboratory Director, Dr José Aragon-Martin, and PhD student Jessica Alvarez are in full flow, presenting two posters that shine a light on some of the unanswered questions surrounding Marfan syndrome and inherited aortic conditions.

José is studying families who were initially thought to have Marfan syndrome but whose genetic results suggest another cause may be responsible for their aneurysms. By exploring complex bioinformatic data in his first approach, he hoped to identify variants of interest beyond the FBN1 gene and uncover new clues about the genetic origins of aortic disease. This work began with the detailed analysis of a single family and, following fresh ideas and discussions at the conference, the team is refining its approach. They hope to gain a clearer understanding of the underlying genetics by September or December 2026.

Meanwhile, Jessica is investigating the three-dimensional protein interactions of variants associated with neonatal Marfan syndrome (nMFS). Having previously mapped the published data on nMFS variants, she is now adding a new dimension to the work, examining how these variants interact within the protein structure itself and what those interactions may reveal about this severe form of the condition.