responsible for two diseases
The American Journal of Human Genetics published in its August issue two scientific papers conducted in the Genetic Research Laboratory at the Research Center at King Faisal Specialist Hospital in Riyadh, through which it was possible to identify the two genes responsible for developing two rare genetic diseases, namely Adam Oliver syndrome and retinal artery enlargement of the eye. The General Executive Supervisor of the General Organization of King Faisal Specialist Hospital and Research Center, Dr. Qasim Al-Qasabi, said that publishing internationally prestigious scientific journals for many of the research conducted at the Research Center is an affirmation of the quality and scientific excellence of those researches on which Saudi research scientists are based, pointing to the communication and complementarity between the two medical sides. Clinical and research in the "Specialist" institution in order to achieve the desired goal, which is to provide the highest level of specialized medical care to citizens and patients and to contribute effectively to the global medical and research scene.
For his part, the chief geneticist, chief geneticist, and head of the Evolutionary Genetics Unit at the Research Center at the Specialty Hospital and the principal investigator for the two researches, Dr. Fawzan Al-Qurai, explained that the first research, through which the gene responsible for a rare genetic disease known as Adam Oliver syndrome, was found. A deficiency in the limbs and scalp, which was distinguished by the innovative laboratory method that is implemented for the first time by combining genetic matching technology with the modern genetic sequencing technology that the Takhasusy Research Center recently provided to researchers, explaining that this innovative integration, which was presented by Dr. Al-Kuraia in a recent scientific conference, facilitated Access to the responsible gene by studying only one patient and within a short period of time, which is considered a paradigm shift for this type of research, which usually requires the study of a group of patients from one family. Pointing out that the research team is going to use this method to identify the genes responsible for a number of hereditary diseases in the Kingdom, which will facilitate the possibility of prevention for affected families or even treatment in some cases. Pointing out that the research team includes a number of researchers, such as Dr. Ranad Shaheen as a senior researcher in cooperation with a number of doctors.
Regarding the second research, the principal investigator, Dr. Al-Kuraia, stated that the gene responsible for a rare genetic disease was discovered for the first time in the world at King Khalid Eye Specialist Hospital several years ago. The disease is characterized by the occurrence of pathological expansions in the retinal artery, which may lead to bleeding in the retina and poor eyesight, as most patients suffer from narrowing of the pulmonary artery. The research team identified the responsible gene, which the study showed that losing its function due to the presence of a specific mutation leads to the overactivation of a biological compound believed to be responsible for disease manifestations in addition to the gene''s function in the vascular walls.
He pointed out that this discovery enabled the affected families to avoid the emergence of more cases through modern techniques available at the Specialty Hospital, expressing his hope for a treatment method in the near future by inhibiting the substance whose overactivity results showed.
The research team included Dr. Lynn Abu Safia from King Faisal Specialist Hospital and Research Center, and Dr. Imad Abboud and Hisham Al-Kuraie from King Khalid Eye Specialist Hospital, in addition to a number of doctors and researchers.
