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JOHNSON Kirsten
Dr Kirsten Johnson is the 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. She also sits on the board of EURORDIS – Rare Diseases Europe and on the Council of Rare Diseases International. She is an Advisor to the Screen4Care forum on newborn screening.
Kirsten is an FMR1 premutation carrier and has two adult daughters who live with Fragile X Syndrome. Her husband lives with a rare cancer, hairy cell leukemia. 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co-authors of the 2022 Cells article , which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology.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.
