UAE expert reveals more than 30 inherited metabolic disorders can be identified within hours from a simple test

Dr. Hamda Abulhoul, Consultant Metabolic Medicine, Dubai Hospital & Dubai Health Authority, said: “Inherited metabolic diseases represent a major public health problem in the Arab world due to the high rate of consanguinity and a need for more public awareness. However, diagnosis has always posed challenges for physicians due to the fact that these diseases share common clinical manifestations and often present themselves in many ways without a set pattern of signs or symptoms. This means a physician must use their investigative skills in order to carry out the specific tests to lead to a diagnosis.

“Timely diagnosis is critical in the treatment of these disorders, and advances in laboratory and clinical research to date, such as Next Generation Sequencing and Tandem Mass Spectrometry (MS/MS), have increased the number of metabolic conditions that can be diagnosed through screening programmes at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders within hours of taking the sample.”

In 2018, Dubai Genetic Centre opened a Genomics unit which was tasked with providing state-of-the-art genomic services by implementing the latest Next-Generation Sequencing. By using Whole Exome Sequencing (WES), physicians have the ability to detect a wide range of rare genetic diseases during the early stages of childhood.

“Rapid developments in DNA sequencing, such as Next-Generation Sequencing (NGS), Whole Exome and Whole Genome have revolutionised screening and diagnosis of inherited metabolic disorders. However, there still remains a high degree of heterogeneity and country wide, there is a lack of uniformity in the tested diseases and which newborn screening programme should be used,” Dr. Hamda Abulhoul said.

“Untargeted metabolomics may become the way of the future, for both screening and diagnosis, in an attempt to better understand the disease pathway and to improve the scope of diagnosis as well as to discover new possible therapies.”

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