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Arab variome can help identify undiagnosed diseases

Findings on genetic variation among Arab population may help solve questions in clinical genomics

Gulf News

Dubai: The Arab variome or the whole set of genetic variations among the Arab population may be used to identify previously unresolved or undiagnosed diseases in other parts of the world to manage, treat or prevent rare diseases, a top geneticist said in a conference on Thursday.

The statement was made during the 7th Pan Arab Human Genetics Conference in Dubai on Thursday, a three-day conference which has become a reference point in the field of human genetics in the Arab world.

Organised by the Centre for Arab Genomic Studies (CAGS), the conference focuses on the development of medical services and genetic diseases, which serve the government’s direction and the State Strategic Plan 2020. It is held under the patronage of Shaikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai and Minister of Finance.

Shaikh Rashid Bin Hamdan Bin Rashid Al Maktoum, chairman of the Board of Trustees of the Hamdan Medical Award, and its members, including Dr Najib Al Khaja, Dr Abdullah Al Khayat, Dr Ahmad Al Hashemi, and Abdullah Bin Souqat, as well as Dr Mahmoud Taleb Al Ali, director of the Centre for Arab Genomic Studies, were present along with other senior officials.

During the conference, Dr Al Ali said the conference over the past 14 years has grown to be one of the most important conferences in human genetics in the Arab world. The centre’s database of gene entries of new diseases has also grown and exceeded 2,400.

Recording all these genetic diseases in the Arab world, mostly resulting from consanguineous marriages or marriages among first cousins or close relatives, is important to determine the time of management or treatment available to the individual or the family.

Fowzan Al Kuraya, a senior consultant and principal clinical scientist at King Faisal Specialist Hospital and Research Centre and conference speaker, said though there are challenges resulting from consanguineous marriages, the dilemma can also be turned into an opportunity to answer the most challenging questions in clinical genomics.

“The Arab variome is a tremendous tool that could be helpful at a global scale,” Al Kuraya, who also works as a Professor of Human Genetics at Alfaisal University, said.

Through the Arab variome, Al Kuraya said the problem of interpreting genetic mutation on unresolved or undiagnosed diseases can be solved.

“The Arab variome is at least one approach. Sometimes they are not solved because they do have a variant in a gene and they have no clue what that gene does [and they stop there] but our work says, here’s the gene that causes this and that immediately helps that patient to reclassify his report from unknown significance or unclear to something very clear that can be used for clinical actionability,” Al Kuraya said.

Al Kuraya said he is sharing his centre’s data with the rest of the world so other patients with mutations or with similar variants to be identified right away and not suffer.

“Finding the right molecular diagnosis can help refine the diagnosis. Oftentimes, the clinical diagnosis is actually wrong and has to be revised. Sometimes, it really helps with the management, not that most genetic diseases are treatable, they’re not, unfortunately, as of now. But this will change in the future. Lastly, for prevention because it gives families reproductive options.”