Brussels, Belgium, Paris, France, and Cambridge, Ma., – February 6, 2025 – The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (“the Global Commission”), a multi-disciplinary group of rare disease advocates, researchers, physicians, and innovators from across the globe, led by co-chairing organizations EURORDIS-Rare Disease Europe, Sanofi, and Takeda, is proud to announce the release of its highly anticipated 2024 end of year report, “From Idea to Action: Resource Compendium for Accelerating Rare Disease Diagnosis.” This report presents innovative solutions and actionable recommendations to overcome diagnostic barriers for rare diseases, paving the way for timely and accurate diagnoses for all children. The report draws from the Global Commission’s Diagnostic Case Study Compendium, which features case studies from various organizations and initiatives around the world, from high-income countries to developing nations.

“The Global Commission’s ‘From Idea to Action: Resource Compendium for Accelerating Rare Disease Diagnosis’ report showcases the incredible creativity, passion, and ingenuity of rare disease champions worldwide – individuals and organizations that are making a real difference,” said Yann Le Cam, Co-Founder of EURORDIS (Rare Diseases Europe). “This report, developed in collaboration with fellow co-chair organizations Sanofi and Takeda, showcases inspiring examples across diverse socio-economic settings, reimagining solutions that reflect the unique challenges each country faces in addressing the diagnostic odyssey. With the common success factors – respecting the cultural context, engaging government early, and collaborating across borders – these organizations set a roadmap for the global rare disease community, offering guiding principles and innovative ideas for others to follow in their footsteps or create solutions of their own.”

About 70% of rare diseases – which affect approximately 300 million people around the world – begin in childhood. It is estimated that it takes an average of five years to receive an accurate diagnosis, even in countries with strong health systems.¹ The Global Commission’s mission is driven by this urgent need. This latest report offers actionable strategies and best practices aimed at expediting diagnosis and improving outcomes for children affected by rare diseases. These case studies highlight common challenges and successful solutions, reflecting the objective of the Global Commission and providing a broad perspective to adopt similar models to take action in ending the diagnostic odyssey for children.

• African Rare Disease Initiative (Democratic Republic of Congo): A locally led effort to expand genetic testing, build a genomic research network, and advance provider training, with a focus on cultural sensitivity, community engagement, and genetic counseling; expanded to 11 of the country’s 26 provinces.

• Casa dos Raros (Brazil): An interconnected network of care for people living with a rare disease throughout Brazil and Latin America, which helps significantly reduce the time to diagnose a rare disease patient to an average of 58 days from first contact.

• Diagnostic Access Program (Ghana): A program started by the nonprofit Rare Disease Ghana Initiative (RDGI) providing free genetic testing and medical care, training over 50 clinicians across 12 facilities in Ghana; achieved a 70% diagnosis rate for more than 200 patients.

• DxGPT (Global): A free digital tool that uses generative AI to analyze symptoms and suggest potential rare diseases; used by over 62,000 people globally and integrated into Madrid’s primary care electronic medical records.

• The Global Nursing Network for Rare Diseases (Global): A virtual network providing educational resources and collaboration opportunities aimed at improving rare disease diagnosis and care through cross-learning; supports over 500 nurses from 51 countries, more than half of which are low- or middle-income countries.

• NANBYO Act (Japan): This act formalized government reimbursement for medical services and research on rare diseases, promoting the use of advanced diagnostic technologies; increased the number of reimbursable conditions from 5 in 1972 to 341 in 2024.

• New Zealand Rare Disease Strategy (New Zealand): Led by Rare Disorders NZ, this strategy brought together diverse patient groups, including the Māori community, to advocate for better support and data collection for rare disorders; resulted in the release of the country’s first Rare Disorders Strategy in July 2024.

• Philippines Newborn Screening Program and Rare Disease Act (Philippines): A pilot program by physicians in Manila led to the successful passage of the Act, resulting in the inclusion of national newborn screening in the public health system; screened nearly 300,000 babies, expanded the number of facilities from 24 to over 7,000, and increased the number of disorders screened from 5 to 30.

• The Undiagnosed Hackathon (Global): An annual global event, hosted by the Wilhelm Foundation and supported by the Chan Zuckerberg Initiative, where multidisciplinary teams collaborate to diagnose previously undiagnosed genetic conditions; 2024 event diagnosed 10 out of 26 families within 48 hours.

• UTOPIA (Australia and Singapore): A digital platform using AI to generate semi-automated summaries of patient conditions based on clinical features; guiding care for approximately 180 patients in Australia and Singapore.

The Global Commission aims to inspire the broader rare disease community to consider similar innovations as they strive to speed up diagnosis, and encourages them to share relevant examples by reaching out to info@globalrarediseasecommission.com. For more information and to access the full report, please visit here.