Dr Kirsten Johnson is the President and one of the founders of Fragile X International. She also sits on the board of EURORDIS (Rare Diseases Europe) and on the Council of Rare Diseases International. Kirsten is a FMR1 premutation carrier and has two adult daughters who live with Fragile X Syndrome. Her husband lives with a rare cancer, hairy cell leukaemia. Kirsten works as a professional musician - more information on her work and recordings is at www.kirstenjohnsonpiano.com. Kirsten was one of the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology. She also co-authored an article in Frontiers, on Fragile X Premutation Associated Conditions. Kirsten is EURORDIS’ board lead on their new Mental Wellbeing Initiative, and serves on the Newborn Screening Working Group.