Expanded catalog of Rare Diseases surpasses the 10,000 marker - study reveals continued expansion
In a groundbreaking report titled 'Power of Being Counted,' Rare-X, a foundation led by CEO Charlene Son Rigby, has revealed that there are approximately 10,867 rare diseases globally, challenging the typical estimate of 5,000-8,000 rare disorders. The report, which uses Online Mendelian Inheritance in Man (OMIM) and Orphanet as primary databases, highlights the outdated nature of the previous estimate. The team behind the report compared and contrasted these databases, deleting duplicates to arrive at the final number.
One of the rare diseases highlighted in the report is associated with mutations in the STXBP1 gene. This gene encodes for the syntaxin-binding protein 1, which helps regulate the release of neurotransmitters. People with this condition do not produce enough of that protein, leading to symptoms such as developmental delays, epilepsy, intellectual disability, movement disorders, low muscle tone, and autism. Charlene Son Rigby's daughter, for instance, has a rare disorder associated with mutations in the STXBP1 gene.
The report also sheds light on the fact that the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) does not capture many rare diseases, making them almost invisible. This oversight is significant, as recognizing the sheer number of rare diseases on any global list empowers researchers, clinicians, patients, and policymakers to understand and invest in rare diseases.
The report offers ways for patients to ensure their conditions are more widely known. These include seeking community, signing up for genetic sequencing, and staying in contact with researchers. The Matchmaker Exchange platform, for example, helps researchers and doctors find patients with the same genetic variants, while MyGene2 and GenomeConnect offer solutions for patients and family members to find each other.
A concerning finding from the report is that only 5% of the 10,867 rare diseases have a treatment option available. However, the report also suggests that about 80% of the rare diseases counted are theoretically treatable.
The report also discusses the ongoing efforts to increase the number of recognized rare diseases. An estimated 250 to 280 new rare diseases are described annually. The Human Genome Project, which sequenced the complete set of human genes, had most of its DNA samples from individuals of European descent. This bias could potentially lead to the underrepresentation of rare diseases in certain populations.
The latest revision of the ICD-10, the 11th, features a noticeable increase in codes but takes time for countries like the U.S. to adopt. This delay in adoption could further hinder the recognition and treatment of rare diseases.
Despite these challenges, the report underscores the importance of continued efforts to understand and address rare diseases. By raising awareness and providing resources, patients, researchers, and policymakers can work together to ensure that those affected by rare diseases are not left behind.
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