Dr Kirsten Johnson

Dr Kirsten Johnson is the President and one of the founders of Fragile X International. She is the Chair of the Council of Rare Diseases International and sits on the board of EURORDIS - Rare Diseases Europe. 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 leukemia. Kirsten works as a professional musician. 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the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology.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 publication is 'The Joys of Fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way' (Neurodiversity, 2024).