RARE Daily

RARE-X Releases New Report that Uncovers Large Number of Previously Uncounted Rare Diseases

June 7, 2022

The nonprofit rare disease health data platform RARE-X in a new report said it has identified that there are as many as 10,867 rare diseases, rather than the oft-reported previous estimate of 5,000-8,000.

The report, The Power of Being Counted, found rare diseases that were previously uncounted, unrecognized, and therefore, below the radar of clinical research teams working to discover new treatments. In addition to the analysis, the report outlines steps patient communities and researchers can take to share data and published research to ensure diseases are entered into knowledge bases to enable the discovery and development of better treatment and support for their diseases.

“Ensuring that the true magnitude of rare diseases is understood is critical,” said Charlene Son Rigby, CEO of RARE-X. “If patient communities, researchers, drug developers, and policymakers are to address rare diseases, it’s essential to understand the magnitude of the problem.”

For decades, an outdated and low estimate has been referenced by governments, nonprofits, and industry organizations, despite nearly 300 new rare genetic disease descriptions being added to principal knowledge bases each year. In the United States, the government defines a rare disease as a condition that affects less than 200,000 people across the country.

The study authors developed a reproducible methodology to identify the accurate number of rare diseases. The authors used Orphanet and OMIM as the two primary sources for disease entries, while also consulting DrugBank, the U.S. Food and Drug Administration’s Office of Orphan Drug (OOD) website, and work included in Genome to Treatment (GTRx). The authors balanced the inclusion of all rare diseases (sensitivity) with the definitions of the diseases (precision) to minimize the risk of counting duplicates. The authors than characterized the diseases based on their available phenotypic description. The analysis showed that there are as many as 10,867 rare diseases, including genetic and non-genetic diseases.

The authors also conducted interviews with experts from leading organizations in the rare disease community, such as the International Rare Disease Research Consortium (IRDiRC), Child Neurology Foundation, EveryLife Foundation, Monarch Initiative, Alexion Pharmaceuticals, Global Alliance for Genomics and Health (GA4GH), and others. These interviews influenced the report’s recommendations on next steps for patients and advocacy groups to ensure all rare diseases are included and reflected in the rare disease databases.

There is a path that most rare diseases follow that takes them from obscurity to a condition that is better understood, more readily diagnosed, with treatments in development and a community built to support it. This report is intended to provide communities with actionable insights that may guide their efforts. RARE-X aims to provide an opportunity for every emerging, poorly defined, and diagnosable rare disease to be counted with a free Data Collection Program enabled by the nonprofit, encouraging patients to stand up and be counted today.

“The challenge with rare diseases lies in the inability to receive care and treatment due to the lack of data and awareness of the disease,” said Kirk Lamoreaux, author of The Power of Being Counted report. “Our goal in uncovering an accurate estimate of rare diseases is to raise awareness of the undercounted number among researchers, policymakers and insurers, while empowering patients to get their disease counted.”

Author: Rare Daily Staff

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