Rare disease with cause unknown has increased, scientists find

LONDON – The number of cases of the debilitating and rare CVID disease, oicron, in Eurasia has risen significantly since 2015, scientists have discovered. The condition causes muscle weakness and difficulty walking.

Scientists made a first-ever direct diagnosis of the disease by genetic analysis and applied genomic sequencing to more than 100 patients with confirmed or probable cases.

The positive results revealed that oicron is a new genetic cause of sickness known as a “variant of concern” or VOC. The syndrome affects between 600 and 800 patients in Europe and only a small number of patients are positive for mutations in the CVID-19 gene.

This discovery raises the possibility that the same gene may also cause other rare diseases, such as TRPV1, which affects more than 3,000 people worldwide, scientists found.

“Researchers in our field are now working hard to understand the cause of these diseases, the causes of the illness itself, and the genetic underpinnings of their disease processes,” said Dr. Alex Clark, a geneticist at the London School of Hygiene and Tropical Medicine.

“We can now use this knowledge to further protect the public from health threats through early detection, better understanding and targeted research in genomics and clinical testing,” he said.

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