Global Genes, a nonprofit dedicated to rare disease advocacy and research, continues to expand its mission to support and educate patients while driving innovation in treatment development. Since its founding in 2008, the organization has grown from a small network of rare disease advocates into a global movement fostering awareness, education, and research.
"Global Genes was initiated to support and empower rare disease patients and advocates. At that time, there was little recognition of rare disease and a very small and fragmented rare disease community," said healthcare entrepreneur and rare disease advocate Charlene Son Rigby, Chief Executive Officer of Global Genes. "Over the last 16 years, Global Genes has amplified awareness of rare disease and provided support and education programs to rare disease patients and advocates."
Addressing Data Challenges in Rare Disease Research
In 2021, Global Genes merged with the research nonprofit RARE-X, furthering its mission by tackling critical data challenges that hinder rare disease research. The RARE-X initiative focuses on making rare disease data more accessible to researchers and filling gaps where data does not yet exist.
"Much of the rare disease data that existed was in data silos, not accessible to researchers outside of the organization that collected it, much less to rare patients," said Rigby. "RARE-X addresses these challenges with an open platform and a rigorous way to collect patient-reported data across rare diseases."
With over 10,000 known rare diseases, data collection is vital to developing new therapies and improving patient care. RARE-X currently collects data for over 80 disorders in collaboration with 124 patient advocacy groups, providing a critical foundation for future innovations.
Supporting Patient-Driven Research and Advocacy
Unlike traditional research models, rare disease patients often initiate studies into their own conditions. Global Genes provides these patient advocates with education and resources to navigate the complexities of therapy development, nonprofit formation, and fundraising.
"Many rare diseases – like my daughter’s – are so rare that there is initially no awareness of the disease in the research or entrepreneur communities," Rigby said. "So, it’s the patients who have such urgency and drive to find solutions; they are kickstarting work in their disease." Rigby’s daughter received a diagnosis of the rare neurological disorder STXBP1-related disorder after a three-year effort to find an explanation for her symptoms.
Through educational offerings and research programs like RARE-X, Global Genes helps patients, researchers, and entrepreneurs build collaborative ecosystems to accelerate progress in rare disease research.
Looking Ahead to Global Gene’s 2025 Initiatives
Global Genes is launching several new initiatives in 2025, including the RARE Advocacy Exchange, a year-long educational series aimed at empowering rare disease advocates.
"Rare disease often upends people’s lives, and as a result, advocates take on unexpected roles, from starting a rare disease community to leading therapy development," said Rigby. "Through this series, we aim to help rare disease community members hone their leadership skills."
Another major initiative is the newly released white paper, "Early and Often," which highlights the importance of ongoing engagement between patient communities and biopharmaceutical companies to improve clinical trials.
Developed through Global Genes’ Corporate Alliance, the white paper calls on biopharma and patient advocates to collaborate more closely to improve the cost, time, and success rates of rare disease clinical trials.
Getting Involved with Global Genes
Global Genes offers multiple ways for individuals and organizations to engage with its work. The Global Advocacy Alliance, a no-cost program supporting nearly 800 patient advocacy groups, provides resources and networking opportunities. The Corporate Alliance, consisting of over 40 biopharma companies, collaborates on key initiatives.
Find out more about the Global Advocacy Alliance, the Corporate Alliance, and its other programs at www.globalgenes.org, or email the organization at careaboutrare@globalgenes.org.
With its continued focus on support, education, and research, Global Genes remains a leading force in the rare disease community, driving progress and empowering advocates worldwide.