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JOHNSON Kirsten
Dr Kirsten Johnson is Chair of the Council of Rare Diseases International. She is President and one of the founders of Fragile X International, a global charity representing those with Fragile X Syndrome and Fragile X Premutation Associated Conditions. Kirsten is also on the board of EURORDIS – Rare Diseases Europe; an Advisor to the Screen4Care forum on newborn screening; and sits on the Platform Advisory Group for Rare Disease Research UK.
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 and has a doctorate in music.
In her advocacy work, 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the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology.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 has also co-authored a 2020 article in Frontiers, on Fragile X Premutation Associated Conditions ‘and was lead author on a 2024 article in JARID on a holistic approach to Fragile X Syndrome. Her most recent article is The joys of fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way.
