Dr Kirsten Johnson is the President and one of the founders of Fragile X International. She also sits on the boards 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the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology.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.

Kirsten says, “Like many people globally, I had not heard of our rare conditions until my daughters and husband were diagnosed. As a member of RDI’s Council, I will work for global policies on diagnosis, treatment and support, so that no-one is discriminated against or left behind.”

“I am keen to support RDI’s development of a Global Network for Rare Disease, believing that a person-centred global network of care and expertise will benefit all PLWRD worldwide."

“My vision is to have an inclusive world where everyone living with a rare condition, whether it is physical, mental, intellectual or a combination thereof, is valued and included as an equal member of society. As an RDI Council member I will be a strong voice for people living with rare conditions around the world, advocating that rare diseases are an international policy priority and supporting the empowerment of RDI members through knowledge exchange, networking, mutual support and joint actions. Alone we can make a difference, but together we can change the world.”

Yann was one of the founders of EURORDIS- Rare Diseases Europe in 1997 and from 2000 to 2024, he served as the organisation’s Chief Executive Officer. Through EURORDIS, Yann was a driving force behind the initiation of Rare Diseases International. In addition to serving as RDI Treasurer, he is Chair of the RDI Advocacy Committee.

Yann was a founding member of the NGO Committee for Rare Diseases (United Nations, New York) in 2014 and is its vice-chair. He is a co-chair of the Global Commission to End the Diagnostic Odyssey of Children with Rare Diseases since its launch in 2018. Yann is a member of the World Economic Forum’s Health Stewards Board from 2020 and of its Global Precision Medicine Council since 2019.

His recent past positions include: Member of the European Medicines Agency’s (EMA) Management Board 2016 – 2019; Chair of the Therapies Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC), 2013-2017; Vice-Chairman of the EU Committee of Experts on Rare Diseases (EUCERD), 2011 – 2013; and a member of the former Commission Expert Group on Rare Diseases, 2013 – 2016. He was also one of the first patient representatives appointed to the Committee for Orphan Medicinal Products (COMP) at the EMA, where he served for 9 years and was its elected vice-chair for 6 years.

Yann holds an MBA from HEC Paris. He has three daughters, the eldest of whom is living with cystic fibrosis.

Durhane is the President and Chief Executive Officer of the Canadian Organization for Rare Disorder (CORD). As an outspoken patient advocate, Durhane made a significant contribution to the haemophilia community following the contaminated blood scandal exposed in the early 90’s.

She began working with CORD as a volunteer in 2006 when she developed an Orphan Drug Policy and headed the advocacy campaign to improve access to new therapies for rare diseases. In 2012, Durhane became president of the Canadian organisation.

Durhane believes strongly in the value of international collaboration, serving on the Board of the International Alliance of Patients’ Organizations and as Chair from 2011-2013.

Through CORD, Canada was the first non-EU country to adopt Rare Disease Day in 2008. Durhane also took an active role in helping to set up the Asia-Pacific Alliance of Rare Disease Organisations (APARDO), serving as Secretary of the alliance. More recently, she was appointed as the President of APARDO.

Durhane has a PhD in psychology and, alongside her husband, has adopted two children, each born with different rare conditions.

Kelly is the Founder and Chief Executive Officer of Rare Diseases South Africa, an organisation that was born out of necessity when her oldest child was diagnosed with Pompe disease at 11 months old. 

Since starting Rare Diseases South Africa, Kelly has taken Rare Disease policy and patient advocacy to new heights in South Africa to raise awareness and create a new narrative in terms of treatment and access for rare disease patients. Understanding the isolation and lack of support surrounding a rare disease diagnosis, providing a safe place for patients as well as families, and improving access to patient-centred care, with a specific focus on Low-Middle Income Countries, has become her passion.

Kelly is a member of IRDiRC’s Patient Advocates Constituent Committee, and is currently involved in the development of Africa Alliance for Rare Diseases. Kelly lives in South Africa with her husband and two daughters.

Possibilities and potential bring together the threads of Monica’s career. Working with and for individuals, families, communities, organisations and sectors, committed to equity and fairness, for many years.

Monica has worked across the community, health, education, business and government sectors. Monica joins the Rare Disease International Council, currently serving the genetic, undiagnosed and rare disease communities as the Chief Executive, Genetic Support Network of Victoria (GSNV), and founding member of GUARD Collaborative Australia, and Treasurer of the Asia Pacific Alliance of Rare Disease Organisations (APARDO). Leading in patient advocacy, presenting nationally and internationally and bringing experience of a range of senior leadership and strategic roles in Government, education, the private sector and international projects.

Monica is an Honorary Fellow of University of Melbourne and actively represents the community on many local, national and international committees, industry and advisory groups, research projects, advocacy and policy efforts and Boards .