Genetic research in Egypt: at the intersection of science and tradition
I enjoyed meeting so many interesting women during the For Women in Science week. I’m posting this information about my research to keep everyone up-to-date on my work.
I focus on genetic malformations that are common in Egypt due to consanguineous (same-blood) marriages and affect certain populations in the Mediterranean region, specifically the Fragile X Syndrome. I work with a team of about 30 postgraduate students and molecular biology colleagues at the National Research Center (NRC) in Cairo, Egypt. I also teach and train of postgraduate physicians and scientists.
Egypt has a long tradition of consanguineous marriages that continues into modern times. Studies conducted in 1992 and 2000 showed that 40.2 and 38.9 percent (respectively) of all marriages are consanguineous. One-third of marriages are between first cousins and about half are same-blood marriages within families. Children born in first-cousin marriages have an extremely high risk of disability due to the fact that they inherit identical gene copies from each parent at 1/16 of their gene loci (F=0.0625). The risk of child mortality is also 50% higher in close consanguineous couples.
The Egyptian government has implemented early detection check-ups, special schools and therapeutic and rehabilitation programs. But the focus of these programs is curative not preventative, and mentally challenged people are institutionalized rather than integrated into society. There’s also unfair geographical distribution of services. The governmental services are located in the greater Cairo area, along with private schools that charge tuition. But about 64% of mentally challenged people live in the countryside. Access to support services is urgently needed in these poor rural areas.
There is greater public awareness about the risk of genetic disorders in consanguineous marriages, but there are still negative societal perceptions about mental disabilities. Mothers are blamed for producing a disabled child. Most women do not have abortions due to cultural beliefs and they face the emotional and financial burden of raising a disabled child alone, after being abandoned by their husband.
There is no instant solution to this situation. The cultural and socioeconomic reasons for same-blood marriages are still engrained in our culture. There is also a shortage of research about genetic malformations and we need more specialists to help with medical, teaching and rehabilitation services.
I believe that the answer is ongoing research, along with genetic counseling about the risk of same-blood marriage and the early detection of FXS with proper diagnosis. Egyptian women typically marry at a young age and have children up to menopause. At-risk mothers need access to genetic counseling prior to becoming pregnant. It’s very hard for women to hear that they could have a child with a genetic defect. But they have a right to know and to make informed choices.
On the positive side, I am the head of the genetics clinic for children with special needs at NRC. This early intervention service evaluates mentally disabled children, especially those with Down syndrome. The clinic provides valuable input for my research and I also like the human interaction. I work with the children and answer the parent’s questions.
My team and I designed computer-assisted techniques to track and monitor the children’s development. I’ve seen regular improvements in cognitive and motor skills, and some children have an improved overall quality of life. So far, over 10,000 families have participated in this clinic.
We created an extensive database with the results of our clinical and biochemical research of rare genetic syndromes leading to mental illness and Trisomy 21 (Down Syndrome). This information is available to genetic researchers worldwide.
In a future posting, I will provide more information about Fragile X syndrome. Until then, I wish all of you the best.