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Kirsten Johnson

Kirsten Johnson

The Fragile X Society (UK)

Kirsten Johnson was elected to the Board of Directors of EURORDIS in May 2022. 

Kirsten Johnson is Chair of the Board of Fragile X International. Fragile X Syndrome is a rare disease, and carriers of the FMR1 gene can experience their own issues, Fragile X Premutation Associated Conditions. Kirsten is a carrier of the Fragile X FMR1 gene and has two daughters who live with Fragile X Syndrome. She served as a member of the Board of The Fragile X Society (UK) from 2016 to 2023. Kirsten was elected to the Council of RDI as Council Member in 2023.  
Kirsten Johnson is the Board Lead for the new Mental Health and Wellbeing Initiative, a member of the Newborn Screening working group and an Advisor on the Screen4Care forum.

In 2022, Kirsten co-authored an article in Cells (Cells | Free Full-Text | The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations | HTML ( which called for the eradication of ‘mental retardation’ in the Fragile X gene and protein nomenclature. As a result of this article, the HUGO Gene Nomenclature Committee, the international body which names genes, agreed to change the definition of FRAXA and FMR1. Further, UniProt, the protein database, has agreed to update the definition of the fragile x protein, FMRP.

Removing this offensive terminology has been welcomed around the world, from scientists, clinicians and families. Building a more inclusive world for all our families affected by rare disease, so that they do not face stigma and discrimination, is key.

In her day job, Kirsten is a pianist and composer. She has a doctorate in music and has released 24 discs of classical piano music on various labels.