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Global Genes Report Finds Technology Reshaping the Rare Disease Landscape, but Non-Scientific Challenges Threaten to Impede Progress

ALISO VIEJO, Calif., Sept. 18, 2019 /PRNewswire/ -- The rapid progress of technology is creating an opportunity to improve the prospects many people with rare diseases face today, but patient organizations, drug developers, and other stakeholders need to be innovative in addressing non-scientific challenges to capitalize on the opportunities before them today, a newly released report from Global Genes says. Global Genes' released the report, Next: Imagining the Future of Rare Disease, today at its RARE Patient Advocacy Summit in San Diego.

"As Global Genes grows, we wanted to take the opportunity to not only look back and reflect upon how far the rare disease community has come, but also look ahead and think about what needs to be done to ensure that the rare disease community can benefit from the advances being made," said Nicole Boice, founder, Global Genes. "While there is great optimism about reducing the diagnostic odyssey, accelerating the development of precision medicines, and even developing functional cures, failure to address these obstacles threaten to slow progress, hamper the translation of discoveries into therapies, and impede access to treatments and care."

The Next report explores a wide array of technological advances that are changing the way that rare disease patients are diagnosed, how research is conducted, therapies are developed, and care is delivered. It was based on nearly 50 interviews with rare disease experts and leaders within industry, government, patient advocacy, science, and academia, as well as an extensive review of academic research and press reports. It explores specific challenges the rare disease community faces and provides examples of how all stakeholders are harnessing technologies like artificial intelligence, next-generation sequencing, digital health tools, and big data analysis.

Despite the considerable progress that has been made in understanding rare disease, about 95 percent of known rare diseases are without an approved treatment today. About 30 million people in the United States—nearly one in 10 people—suffer from a rare disease. Globally, an estimated 400 million people are afflicted with such conditions. 

"People faced with rare diseases are an impatient group because they have to be. Time is a luxury that patients and their families can't afford. As such, even the dizzying pace at which scientific advances are being made today can still seem plodding to the thousands of rare disease communities without approved treatments," said Kimberly Haugstad, CEO, Global Genes. "We hope this report begins an ongoing discussion in the years ahead to foster creative thinking and new approaches to solving a range of problems that may stand in the way of patients getting the answers and care they need."

The report can be downloaded by visiting

About Global Genes®
Global Genes is a 501(c)(3) nonprofit organization on a mission to connect, empower and inspire the rare disease community. We provide hope for more than 400 million people affected by rare disease around the globe. To date, we've educated more than 18 million people in 134 countries about rare disease, equipped 190,000 patients and advocates with tools and resources, and provided $460,000 in support for innovative patient impact programs. If you or someone you love have a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the resource hub at

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Global Genes Report Finds Technology Reshaping the Rare Disease Landscape, but Non-Scientific Challenges Threaten to Impede Progress

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Last Updated: 18-Sep-2019