Kirsten Johnson

Rebecca Tvedt Skarberg

The Fragile X Society (UK)


Kirsten Johnson was elected to the Board of Directors of EURORDIS in 2022. She is the Chair of the Board of The Fragile X Society (UK) and 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.

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.

La voix des patients atteints de maladies rares en EuropeEURORDIS Donnant la voix, à l'international, aux personnes vivant avec une maladie rareRare Disease International Pour rapprocher patients, familles et experts sur un forum modéré multilingue, où partager leurs expériences. RareConnect Le programme Rare Barometer est une initiative d’EURORDIS qui vise à réaliser des sondages pour transformer les expériences des patients de maladie rare en faits et chiffres à communiquer aux décideurs politiques.Rare Barometer Campagne internationale de sensibilisation organisée chaque année le dernier jour de février, la Journée Internationale des Maladies Rares est une initiative d'EURORDISRare Disease Day Participez au plus grand événement réunissant tous les acteurs des maladies rares en Europe lors de Conférence européenne bisannuelle sur les maladies rares et les médicaments orphelins (European Conference on Rare Diseases and Orphan Products, ou ECRD). L'ECRD est une initiative d'EURORDISEuropean Conference on Rare Diseases