Researchers from KAUST, King Faisal Specialist Hospital, and collaborators have developed a new method to predict cardiometabolic disease risk in underrepresented ethnic populations using genetic information and public databases. The study focused on Arab communities and created a framework to determine polygenic scores for more accurate heart disease prediction. The framework was validated using records of over 5,000 Arab patients, demonstrating that genetic risk complements conventional risk factors. Why it matters: This research addresses a critical gap in genomic data for non-European populations, potentially leading to more effective and personalized healthcare strategies in the Arab world and beyond.
KAUST researchers have identified the gene 'CIROZ' as responsible for pediatric heart defects and misplacement of internal organs, working with institutes in Saudi Arabia and worldwide. The research examined samples from 16 patients from 10 families, including four from Saudi Arabia, revealing CIROZ's role in embryonic development symmetry. The findings provide insights into heritable diseases, which are more prevalent in Saudi Arabia. Why it matters: Identifying this gene allows for focused research on preventative strategies and curative therapies for congenital heart defects, particularly relevant in regions with higher rates of such diseases.
KAUST and King Faisal Specialist Hospital and Research Centre (KFSHRC) are collaborating to develop an RNA sequencing tool to improve the diagnosis rate of genetic diseases. The tool analyzes RNA data to find aberrant transcripts and mutations, building on KFSHRC's clinical data and KAUST's computational expertise. The team has already solved cases that DNA sequencing alone could not, including a case of a young child with brain damage caused by a recessive gene mutation. Why it matters: This collaboration can improve disease management and preventative services in the region, directly contributing to Saudi Arabia’s national research priority of health and wellness.
KAUST and KFSHRC have developed NanoRanger, a new gene sequencing system for identifying mutations causing genetic diseases. NanoRanger offers a faster and simpler process to detect DNA abnormalities at base resolution, building on existing long-read sequencing technologies. The system is designed to be cheaper and faster, targeting diseases prevalent in Saudi Arabia due to consanguinity. Why it matters: The technology has the potential to improve diagnosis and treatment of Mendelian diseases, which are especially prevalent in the Arab world.
KAUST, Tufts, and JIHS researchers created pangenome graphs using Saudi and Japanese samples, named JaSaPaGe. These graphs address the underrepresentation of these populations in existing pangenome databases, which are used as references for understanding individual DNA. The population-specific pangenomes are expected to improve variant calling and diagnostic accuracy for genetic disorders in these groups. Why it matters: This work promotes precision medicine and reduces diagnostic gaps for underrepresented populations by providing more relevant genetic baselines.