FraXI’s President Kirsten Johnson presented a talk at the 6th International Conference on Fragile X Premutation Associated Conditions held from the 8th to 11th September 2025 in Italy. Kirsten was among many international experts sharing their work on various topics relating to FXPAC and FXTAS. 

The International Conference on Fragile X Premutation Associated Conditions is organised once every two years and is an invaluable platform for scientists, medical practitioners, and advocates from all over the world to come together and share their contribution. From the 8th to the 11th of September this year, participants representing diverse associations with FXPAC, FXPOI and FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome) met in sunny Polignano, Italy, for four full days of learning and sharing ideas. The aim of the conference was to provide a space for experts to deepen their understanding of the FMR1 premutation and its clinical, cognitive, and behavioral manifestations while uniting under the common cause of improving the lives of individuals and families living with FXPAC. 

A range of topics were discussed at the event- from molecular and cellular mechanisms, clinical characterization to psychological and behavioral phenotypes, and emerging strategies for management and intervention. A key feature of this year’s conference was the diversity in angles of understanding premutation-associated conditions.

FraXI’s Kirsten Johnson presented a talk on FXPAC and inclusive terminology, based on a paper she co-wrote with Jonathan Herring and Jörg Richstein. The paper contends that the overarching nature of the term “FXPAC” furthers inclusivity and helps clinicians understand how their patients will be affected, and encourages researchers to explore the various

conditions which may be linked to altered FMR1 gene expression. The study also explores stigma and discrimination towards individuals living with the condition and their families and how using this term can act as a deterrent. 

You can read the full abstract of this presentation as well as others presented at the conference qui.