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Local and international experts call for increased genetic research to support the 25 million people living with rare disease in the Middle East

Local and international experts call for increased genetic research to support the 25 million people living with rare disease in the Middle East

Tuesday, February 27, 2018/ Editor -  

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  • Arab nationals suffer from one of the highest rates of genetic disease in the world 
  • Rare disease day is marked on the last day of February every year. This year’s theme is ‘Research’ 
27 February 2018, Dubai, UAE:  This Rare Disease Day, experts are calling for increased research to unlock the answer to rare diseases which will, in turn, help the 25 million patients from the Middle East living with rare disease .
 
There are more than 6000 known rare diseases, of different prevalence rates, and this number is continuously growing . Most rare diseases are caused by a genetic defect, which means that children are born with the condition and will not get better by themselves. The symptoms of rare disease can often be very serious, making patients very sick or causing disabilities that impact on how long they will live and their quality of life. It is reported that rare diseases affect 7% of the population  in the Arab world. 
 
A 2018 report on Rare Diseases by the Centre for Arab Genomic Studies (CAGS) highlights that in the Arab World, most rare diseases have no cure and only few treatments are available and that, to help change this, patient involvement in research needs to improve. Although there is a need for more research in the Middle East, CAGS have successfully increased the number of gene and disease entries for the Arab population so it now exceeds 2,300 entries.
 
Dr. Mahmoud Taleb Al-Ali, Director of the Centre for Arab Genomic Studies said, “CAGS joins the global call of Rare Disease Day 2018 on policy makers, researchers, and healthcare professionals to increasingly and more effectively involve patients in rare disease research. This will contribute to enhanced and faster diagnosis of rare diseases and therefore reduce the number of people around the world who face the daily challenge of living with an undiagnosed rare disease. In addition, it will help develop treatments that can greatly ameliorate the quality of life of rare disease patients.”
 
International centres such as Great Ormond Street Hospital for Children (GOSH) based in London, who treat 1,500 children from the Middle East every year, also aim to help children from the Middle East through using their specialist expertise to pioneer new research and techniques into rare, genetic diseases.
 
GOSH is home to 17 nationally commissioned services for rare diseases and has helped nearly 100 children from the Middle East with immunology problems last year. 
 
Dr Matthew Buckland, who specialises in primary immune deficiency at GOSH says, “The Immunology services at GOSH have been at the forefront of novel therapies in rare and inherited disorders for decades.  The first gene therapy in the UK for gamma chain SCID was developed here and trialled over 15 years ago.  Since that time the team have worked with others in the field.  The first licensed gene therapy for an immune deficiency (ADA-SCID) is now available in Europe, there are further developments in Wiskott-Aldrich, Chronic Granulomatous disease and novel approaches for other disorders to follow.  Genetic discovery is incredibly important, but so is translating this into treatments that work for affected children.”

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