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Genetics lab at KFSHRC attracts attention of global researchers

The genetics lab at King Faisal Specialist Hospital and Research Center (KFSHRC) has recently received samples of Adam Oliver Syndrome (AOS) patients to conduct more studies on genes responsible for the disease, local media reported. These have been sent by medical researchers in Egypt, Spain and the United States.
The KFSHRC lab has gained recognition and reputation in the last few years because of outstanding genetics studies carried out at these labs.
Two years ago, the KFSHRC developmental genetics lab identified the first genes related to the Adam Oliver Syndrome. The result was widely published in scientific magazines and periodicals. This medical breakthrough has sparked researchers at medical centers in the three countries to seek medical consultancy services at KFSHRC facilities, according to local media.
Dr. Fowzan Al-Kiraie, senior genetics researcher and head of the lab, said AOS leads to partial loss of the scalp and shrinking of limbs. “Identification of genetics leading to the disease will help the infected families benefit from the modern technologies so as to avoid syndrome-infected newborns,” he said.
He said the identification of the AOS genes will open new avenues to understand the natural evolution of human limbs. He added that researches carried out on mouse embryos indicated that the genes clearly appeared in the beginning of limbs formation and, therefore, more studies were needed to understand the functional aspects of the genes.
The research was funded by King Abdulaziz City for Science and Technology (KACST) and the Harvard Foundation for Medical Research in Dubai. The outcome of the research was published in the April issue of the American Journal of Human Genetics.
According to medical data, one of the specific features of AOS is cutis aplasia congenita (missing hair and/or skin) affecting the posterior part of the skull, with or without an underlying defect of the cranial bone. There may also be varying degrees of terminal transverse defects of either the upper extremities, lower extremities, or both.

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