Researchers discuss genetic disorders, one of the UAEU projects that was highlighted last night at a research event.
Telltale signs of genetic disorders
ABU DHABI // When a couple brought their young child to the clinical geneticist Dr Lihadh al Gazali, she immediately recognised the signs.
There was mental retardation, blindness caused by black holes in the eye, painful and untreatable skin lesions, and an underdeveloped cerebellum, which is the region of the brain that controls movement.
The family had already lost another child to the same symptoms, and some relatives were similarly affected.
Although Dr al Gazali knew it was a recessive disorder resulting from inter-family marriage, there was not yet a name for the condition.
Her research led her to connect the disorder with other cases, and to give it a name: CHIME-like syndrome.
Her research was among 100 projects showcased last night at the UAEU Education & Research 2011 event at Emirates Palace.
"Once we identified the gene, we understood the actual disease and what it involves, and can then look into the possibility of treatment," said Dr al Gazali, a professor in clinical genetics and paediatrics at UAE University. "Once you make a diagnosis like that, the family is happier because they are out of the dark and can stop going from one doctor to another trying to find a solution for their child."
Consanguinity, or a relationship by blood or common ancestor, has a 50 per cent rate among Emiratis, Dr al Gazali said during a recent interview.
More than 270 genetic diseases have been reported in the UAE, and the Ministry of Health has named genetic disorders as one of the top five highest causes of death in the country.
Dr al Gazali and her colleague, Dr Bassam Ali, an associate professor of molecular and genetic medicine, have identified genes for about 15 disorders specific to families in the region. About eight of those were new diagnoses.
"When I began seeing patients here, most of the cases seemed very strange and not very well defined or well known," said Dr al Gazali, who was trained in the UK. "There was not much I could do for the families except to talk with them about it."
By identifying the genes, families have more options for conceiving, she said. Screenings of prospective spouses can determine who is a carrier of a recessive gene.
A pre-implantation diagnosis, not yet done in the UAE but available in Saudi Arabia, allows for testing of an identified mutation in the genes before implanting the egg in the womb. The eggs that that are defective can be discarded.
That form of screening is more acceptable than prenatal diagnosis, which is a precursor to abortion.