Expanded catalog of Uncommon Maladies Breaks 10,000 Threshold - Study Reveals Continued Expansion
In recent years, there has been a significant shift in the understanding and documentation of rare diseases. A new report by Rare-X, a foundation dedicated to decentralizing and de-siloing patient-owned data, has shed light on this evolving landscape.
The report, titled "Power of Being Counted," concludes that there are approximately 10,867 rare diseases worldwide. This analysis, conducted by Orphanet, utilizes a methodology based on expert curation of medical literature and data integration from various disease classification systems.
One such rare disease that has seen a notable increase in diagnosed patients is those related to the STXBP1 gene. As of 2016, there were only 200 known patients with an STXBP1-related disorder. Today, that number has grown to at least 1,500 diagnosed patients.
The STXBP1 gene encodes for the syntaxin-binding protein 1, a crucial player in regulating the release of neurotransmitters. People with the condition do not produce enough of this protein, which can lead to symptoms such as developmental delays, epilepsy, intellectual disability, movement disorders, low muscle tone, and autism.
Charlene Son Rigby, CEO of Rare-X, personally understands the challenges associated with rare diseases. Her daughter has a rare disorder associated with mutations in the STXBP1 gene.
To help researchers and doctors find patients with the same genetic variants, platforms like The Matchmaker Exchange, MyGene2, and GenomeConnect offer solutions. These platforms aim to connect patients and family members, facilitating the sharing of experiences and potential advancements in treatment.
However, despite these advancements, only 5% of the 10,867 rare diseases have a treatment option available. About 80% of the rare diseases counted in the report are theoretically treatable, but about 20% are not well defined and thus "not clinically actionable."
Son Rigby also outlined reasons why rare diseases are undercounted, mainly due to how they are described and the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) not capturing many rare diseases.
The report provides updated information for patients and outlines ways for them to ensure their conditions are more widely known. This includes seeking community, signing up for genetic sequencing, and staying in contact with researchers working on the condition.
Orphanet, a rare disease encyclopedia, includes information on the diagnosis, care, and treatment of over 6,000 conditions. As more discoveries are made, the number of rare diseases is expected to grow.
The Human Genome Project, while successful in sequencing the complete set of human genes, mostly used DNA samples from individuals of European descent. This has led to a lack of representation for other ethnicities in rare disease research and diagnosis. However, with platforms like The Matchmaker Exchange, MyGene2, and GenomeConnect, and the growing awareness and understanding of rare diseases, progress is being made towards a more inclusive and comprehensive understanding of these conditions.
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