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.
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.
The Russian Immune Diversity Atlas project aims to profile immune cells from people of different ancestries at a multiomics level. The goal is to reconstruct a reference atlas of the healthy immune system and investigate its perturbations in Type II Diabetes (T2D). The project seeks to identify novel mechanisms and genetic/epigenetic markers for early T2D diagnostics, prognosis, and therapy as part of the international Human Cell Atlas. Why it matters: Addressing genetic diversity in biomedical research, particularly in the context of the Human Cell Atlas, is crucial for personalized medicine and ensuring that treatments are effective across diverse populations in the Middle East and globally.
Eran Segal from Weizmann Institute of Science presented The Human Phenotype Project, a large-scale prospective cohort with over 10,000 participants. The project aims to identify novel molecular markers and develop prediction models for disease onset using deep profiling. The profiling includes medical history, lifestyle, blood tests, and molecular profiling of the transcriptome, genetics, microbiome, metabolome and immune system. Why it matters: Such projects demonstrate the growing focus on personalized medicine in the region, utilizing advanced AI and machine learning techniques for disease prevention and treatment.
Khaled Alsayegh at the King Abdullah International Medical Research Center is creating a Saudi Stem Cell Donor Registry, with 80,000 potential donors identified. The aim is to identify universal donors, reprogram their cells into induced pluripotent stem (iPS) cells, and create a gene bank for matched tissue transplants. Alsayegh is collaborating with Jesper Tegnér at KAUST to create pacemaker cells using single-cell RNA sequencing. Why it matters: This initiative could revolutionize precision medicine in KSA by providing readily available, matched cells for transplants, reducing the need for patient-specific reprogramming and improving treatment outcomes.