Kirsten has co-authored influential publications on Fragile X-associated conditions, including research that led to the renaming of the FMR1 gene and protein to remove outdated and stigmatizing terminology. Through her leadership and advocacy, she works to strengthen global collaboration, promote person-centred care, and advance policies that improve diagnosis, treatment, and support for people living with rare conditions worldwide.

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.

Diego Fernando Gil Cardozo is the President of Enfermedades Raras en El Caribe y América Latina (ERCAL), the regional network uniting rare disease communities across Latin America and the Caribbean. Diagnosed with pulmonary hypertension 36 years ago, Diego has dedicated his life to advocacy, drawing from his personal journey and professional expertise to build stronger systems of care and representation.

He began by leading his national pulmonary hypertension group and later became Executive Director of FECOER, Colombia’s national rare disease federation. As a Council member of RDI, Diego brings regional insight and a strong advocacy network to co-create global tools and share best practices. He champions the connection between ERCAL and RDI to ensure Latin America’s priorities and innovations are reflected in international strategies.

Toni is founder and president of Casa Hunter, president of Febrararas, the Brazilian Federation of Rare Disease Associations, and co-founder and president of Casa dos Raros. He works closely with the Brazilian Parliament to fight for public health policies and laws that grant a better life for people with rare diseases.

Through the Malaysian Rare Disease Society and her other roles both in corporate & non-profit, she has been involved in multi-stakeholder collaborations & negotiations, from engagements with policymakers to body corporates, media, IOs, patient groups and civil society at local, regional & international level pushing for equity and rights for persons living with RD & their families.

She has served as Volunteer Regional Manager for Southern Africa at the International Gaucher Alliance, was a member of the Global Genes Leadership Council, and is a member of the International Rare Diseases Research Consortium (IRDiRC). Through RDZ, Trudy leads family support initiatives, community-based screening programs, and the development of Zimbabwe’s first national rare disease registry, ensuring African perspectives are represented in global rare disease research, policy, and advocacy.

Under Nicole's leadership, RVA led the development of Australia's National Strategic Action Plan for Rare Diseases and has co-designed major national initiatives, including the Top 10 Rare Disease Research Priorities, Recommendations for a National Approach to Rare Disease Data, the Rare Disease Disability Toolkit, and the National Recommendations for Rare Disease Health Care. She also serves as the consumer nominee on the Life Saving Drugs Program Expert Panel and is a member of the HTA Consumer Consultative Committee, continuing to champion equitable access and improved outcomes for Australians living with a rare disease.