Researchers Assert Characterization of Rare Diseases is Advancing

Researchers Assert Characterization of Rare Diseases is Advancing

Complex characteristics of rare diseases have for long baffled clinicians. Also called orphan diseases, they mirror a complex epidemiology, presenting challenges to scientists and laboratory professionals. Doctors say each case in different and lack of established diagnostics make the treatment difficult. Stridently, underdiagnoses is a major concern. Further, in some cases, doctors might never see the disease again in their lifetime.

Rare Diseases not as Rare as You Think

That said, the rare prevalence of rare diseases—less than 1 in every 2000–is more of a fallacy than with scientific backing. The cumulative frequency is higher, contend scientists, with the classification of as many as 8,000 rare disorders worldwide. They are no doubt debilitating, sometimes killing the patients silently. To put in nutshell, rare diseases affect the overall social, physical, and psychological well-being of the sufferer.

Coordinated Efforts to Close Knowledge Gap of Doctors Managing Rare Diseases

A commentary in the journal Nature Reviews Drug Discovery, 19 authors comprising data scientists and rare disease specialists from numerous countries revealed that they now have a better understanding on the underlying pathology. Characterization of the rare diseases has advanced significantly, they assert. They have reiterated on coordinated effort to close gap of knowledge that healthcare providers show in understanding of orphan diseases. Further, there is a need to frame a universally-accepted definition and classification of the diseases, which can cut across geographies. For instance, a disease rare in one region may not be in another.

An important step should be to putting efforts to improve diagnostic technologies. Pharmaceutical companies shy away from research in rare diseases due to the lack of business potential. But, the write-up calls for the pressing need to prioritize unveiling technologies for rare disease diagnosis and treatment.

Carol O. Brown

A computer science engineer, Carol O. Brown has always been intrigues by health science. This led her to become a healthcare writer. She is a digital marketing professional with more than three years’ experience.

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