In November this year, a major conference will be held in Dubai to explore the research being done in the field of congenital disorders.
Scientists from around the region and beyond will also look into blood and metabolic disorders and issues such as consanguinity (marriage among close relatives) and hereditary diseases.
The reason the scientists are gathering here is because genetic diseases are a major public health problem in the UAE and the Arab world.
There is also a huge lack of awareness of genetic diseases and to address that issue, the Centre for Arab Genomic Studies (Cags) was set up in Dubai.
Its main aim is to identify the genetic basis of diseases in the Arab world as well as supporting preventive measures to these diseases.
“The foundation of the Cags was to alleviate human suffering from genetic diseases in the Arab world,” says Professor Najib Al Khaja, Secretary General of the Shaikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences.
Cags was set up under the direction of Shaikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai, Minister of Finance and Chairman of the Dubai Health Authority.
Information is now easily available to people on the various genetic diseases and it can be accessed from a huge database on its website. The Catalogue for Transmission Genetics in Arabs (CTGA) database presently has entries for nearly 1,580 genetic disorders.
“Researchers are joining the largest Arab scientific effort to define genetic disorders described in the region,” according to the centre.
The UAE Genetics Diseases Association (UAE GDA) estimates that there may be more than 400 genetic diseases in the country.
Genetic disorders are the fourth-highest cause of death in the UAE, according to Ministry of Health statistics. In addition, the UAE is ranked sixth among 193 countries in terms of prevalence of birth defects, mainly due to genetic causes.
This represents a major public health problem and creating awareness is the key. According to Abdul Rezzak Hamzeh, senior scientific coordinator at Cags, the centre will tie up with hospitals soon to study certain cancers that have not been studied so far.
He said that neonatal screening is helping catch the various blood disorders, and that “attitudes are changing” among women towards screening for breast cancer.
The UAE GDA believes that 70 per cent of birth defects can either be prevented, or that affected children can be offered care that could be life-saving or would reduce the severity of disability, if interventions, especially before conception or in very early pregnancy, are put into place.
Professor Al Khaja says that in the Arab world, genetic diseases represent a major public health problem due to the high rate of consanguinity and lack of public awareness. “Genetic studies would represent the principal step to address these diseases,” he says.
Senior officials have also called on people to become involved in the fight against genetic diseases, particularly thalassaemia, and to be involved in the national screening programme.
Marriages among close relatives are the main cause of genetic diseases and are linked to high incidences of congenital malformations, mental retardation and disability.
The reason behind this is that the more closely two people are related, the more genes they share. A marriage between first cousins increases the risk of having a child with a severe congenital or genetic disorder by 2.5 times.
A study notes that the extended family structure prevalent in Arab societies and mostly associated with consanguinity, tends to display peculiar distribution patterns for genetic diseases not present in many other societies.
For instance, in a Western family, mutation carriers are scattered through the general population after a few generations. In an Arab society, mutation carriers mostly remain concentrated within the extended family.
The study points out that children of consanguineous parents are more likely to enter into consanguineous marriages. “We expect that sub-populations with different gene frequencies and diseases will form,” it says.
The study points out that it is important that attention be directed towards identifying such families and providing them with help.
“Careful and detailed analysis of many of the anomalies is required in order to offer accurate diagnosis and genetic advice,” the study states. “Besides, these families provide a good opportunity to map and identify the responsible genes to improve our knowledge about the mechanisms of genetic disorders.”