Omani girl battling rarest of genetic diseases
Published: 11:03 AM,Mar 06,2019 | EDITED : 05:05 AM,May 02,2024
Muscat: An Omani girl (aged three) suffering from a rare disease called 'glass bone' since birth has been treated both within and outside the Sultanate.
Oman TV recently featured her in a programme to mark the Rare Disease Day, which is celebrated every year on February 28.
Her disease has been ranked among the eight rarest in the world.
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According to health experts, the disease can be avoided by screening during the pregnancy while the National Genetic Centre in Bausher provides diagnosis and treatment through its clinics.
The disease is caused by a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone. The defective gene is usually inherited. In some cases, however, a genetic mutation, or change, can cause it, according to reports.