The Department of Biomedical Sciences at the College of Health Sciences at Qatar University (QU) proudly announces the success of its Master's Defense Presentations for the Master of Genetic Counseling program. This significant event showcased the extensive research efforts of a total of four students completing their Master of Science in Genetic Counseling degree. QU carefully organized the defense sessions, which featured distinguished committee members and examiners from various health-related clusters at QU, including the College of Medicine, as well as esteemed genetic counselors and physicians from Sidra Medicine and Hamad Medical Corporation (HMC).
The presentations by the graduating students covered a range of innovative topics, demonstrating their dedication to advancing genetic counseling and research in Qatar. Their work addresses critical health challenges and provides valuable insights that will benefit the medical community and patients alike.
Heba Abdulwahab Al-Maghrbi showcased her project, entitled “Prenatal Whole Exome Sequencing of Fetal Sonographic Abnormalities in Qatar: Diagnostic Yield and Genetic Findings.” Dr. Mashael Nedham A. J. Al-Shafai, along with committee members Dr. Sara Osman Musa, CGC Karen El-Akouri, CGC Maria Farag, and CGC Zoulikha Rezoug, supervised the project. This is the first study in Qatar to assess prenatal WES diagnostic yield and genetic outcomes. The prenatal WES diagnostic yield was found to be 45.45%, indicating its significant utility. A potential founder effect of the homozygous PV c.11806-1G>A in the NEB gene was identified, along with three potentially clinically relevant variants classified as VUS. These findings highlight the importance of prenatal WES in diagnosing fetal abnormalities and guiding clinical decisions.
Dr. Atiyeh Abdalla, along with committee members Dr. Mashael Al-Shafai, Dr. Kholoud Al-Shafai, and Dr. Marios Kambouris, supervised Shahd Mohammad Omar Nasr's project, “Genetic Causes of Cardiac Channelopathies in Qatar: Toward Risk Stratification and Management Strategies of Disease.” This study is the first to investigate the underlying genetic causes of cardiac channelopathies in the Qatari population. Pathogenic and likely pathogenic genetic variants were identified in 25% of patients, paving the way for enhanced diagnostic precision and targeted treatment strategies. These findings have the potential to improve clinical outcomes and guide preventive measures in Qatar's population and beyond.
Dr. Mashael Nedham A. J. Al-Shafai supervised Tala Mohuiddin Jamaleddin as she presented her project, “Qatar National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes,” along with committee members Dr. Tawfeg Ben-Omran, Dr. Ghassan Abdoh, Dr. Osama Al-Dirbashi, and CGC Karen El-Akouri. According to the study, the overall incidence of IEMs in Qatar to be 1 in 1,084, with classical HCU being the most prevalent due to a founder variant. Aminoacidopathies were the most reported category. Genetic testing led to a diagnosis in 87% of cases, offering valuable insights for future research and strategies to reduce the incidence of IEMs and improve outcomes.
Salma Bouabidi presented her study titled “Translation and Adaptation of the Genetic Counseling Outcome Scale (GCOS-24) for the Evaluation of Genetic Counseling Services in Qatar.” Dr. Mashael Al-Shafai, along with committee members CGC Karen El-Akouri and CGC Reem Bux, supervised the study. The study successfully translated and culturally adapted the Genetic Counseling Outcome Scale (GCOS-24) into Arabic, introducing the GCOS-24Qa. After psychometric testing, the GCOS-24Qa will be used to evaluate the effectiveness of genetic counseling services for Arabic-speaking populations in Qatar and potentially other Arabic-speaking regions.
For more information about the Department of Biomedical Sciences at the College of Health Sciences, please visit their page.