New Report Details State of Rare Disease R&D, Investment and Treatment

Findings Include a Reported 55% Increase in Acknowledged Rare Diseases, and Investment Outpaced the Broader Biotech Market

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Global Genes, a leading rare disease patient advocacy organization, today released its NEXT 2022: Redefining the Possible report, an annual reflection on the status of innovation and progress in rare diseases, including a comprehensive collection of data, studies and key findings published throughout 2021 from leading global rare disease stakeholders outlining advancements in rare diseases and what comes next.

An aggregate of rare disease trends, highlights and commentary from leaders in the industry, the report outlines progress made in rare disease research, diagnosis, development, regulation, funding and treatment, introducing new and unique data. Key findings within the report include:

• There are as many as 10,869 rare diseases worldwide, as opposed to the often used 7,000 figure, according to research conducted by RARE-X, a Global Rare Disease Data Platform
• 84 percent of all drugs approved under the FDA’s accelerated assessment program between 2015 and 2020 had orphan designations, and 27 percent of orphan drugs that won approval during that time did so through the accelerated approval pathway
• The economic burden for rare conditions is three to five times greater than the costs for people without a rare disease, according to a study commissioned by the EveryLife Foundation and published in the Journal of Rare Diseases
• Funding for rare disease drug development saw a spike in 2021, raising a total of $22.9 billion–a 28% increase YoY– through public and private equity and financing, outpacing most biotech and health segments

The NEXT report also provided perspectives from dozens of experts on critical innovations and improvements required to further advancements in rare disease, including:

• De-siloing data holds the key to creating pathways to earlier diagnosis and progress in rare disease development, treatment and education
• AI and machine learning have become essential in identifying pathogenic genetic variants underlying rare diseases
• Patient organizations—often out of necessity—are playing a more integral and entrepreneurial role in drug development, advancing gene therapy and other programs beyond basic academic research toward clinical research and partnering
• Across the globe, patient organizations are taking steps to create national and international frameworks for rare disease health access to address inequities and gaps

“Looked at collectively—and in particular with the new knowledge that the true number of rare conditions has been significantly undercounted—rare diseases represent a major area of unmet need and, as we move beyond the pandemic, should become more of a global health priority,” said Craig Martin, CEO of Global Genes. “The NEXT Report also reinforces that rare diseases are becoming an exciting proving ground for promising biotechnologies, such as gene therapy, gene editing and other regenerative medicine approaches—and a place where new models for collaborative data-sharing and drug development may lead to more productive and efficient pathways to advance therapies to patients.”

For further insights, research and information into the status of rare diseases today and an outlook of rare diseases tomorrow, download the complete NEXT 2022 report.

About Global Genes
Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of our mission, we connect, empower, and inspire the rare disease community to stand up, stand out, and become more effective on their own behalf ⁠— helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. We serve the more than 400 million people around the globe and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit our Resource Hub.