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Malaysia moves to tackle rare diseases, 492 identified so far


Malaysia has identified 492 rare diseases so far, said Health Minister Datuk Seri Dr Dzulkefly Ahmad.

PUTRAJAYA: Malaysia has identified 492 rare diseases so far, said Health Minister Datuk Seri Dr Dzulkefly Ahmad.

He said while the country currently does not have a national rare disease registry, data from Kuala Lumpur Hospital (HKL) and Penang Hospital under the ministry estimated that around 12,000 patients are living with rare diseases and receiving treatment at these facilities.

“Rare diseases refer to life-threatening or chronic conditions that affect fewer than one in 4,000 people,” he told reporters after the Southeast Asia Rare Disease Policy Forum today. 

He added that globally, between 6,000 and 8,000 rare diseases have been identified, though only about 5% currently have specific treatments available.

“The list continues to grow as more rare diseases are discovered through ongoing research and genetic sequencing.

“Each time a new case is presented and genetic sequencing is done, researchers often find a new rare disease, so the list keeps expanding,” he said.

According to the World Health Organisation (WHO), rare diseases are often debilitating, degenerative, and potentially life-threatening, affecting only a small fraction of the population.

ALSO READ: Malaysia launches National Policy for Rare Diseases to ensure equitable healthcare

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