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.
Professor Eran Segal presented The Human Phenotype Project, a longitudinal cohort study with over 10,000 participants. The project aims to identify molecular markers and develop prediction models for disease using deep profiling techniques including medical history, lifestyle, blood tests, and microbiome analysis. The study provides insights into drivers of obesity, diabetes, and heart disease, identifying novel markers at the microbiome, metabolite, and immune system level. Why it matters: Such large-scale phenotyping initiatives could inform personalized medicine approaches relevant to the Middle East's specific health challenges.
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, 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.
The Human Phenotype Project (HPP), led by researchers from Mohamed bin Zayed University of Artificial Intelligence (MBZUAI), published findings in Nature Medicine detailing an understanding of the health-disease continuum. The HPP involves deep and longitudinal profiling of approximately 28,000 participants, collecting diverse data including medical history, lifestyle, blood tests, and molecular profiling. The project aims to create AI-based predictive models for disease onset and progression, and digital twins to simulate interventions. Why it matters: This research can transform precision medicine and preventative care in the UAE by creating personalized digital twins that can simulate interventions and predict health trajectories.
KAUST's Environmental Epigenetics Program (KEEP), led by Prof. Valerio Orlando, focuses on understanding how cells acquire and maintain memory, particularly in response to environmental factors. The research investigates the role of non-coding RNA and chromosomal components in regulating gene expression beyond the DNA sequence. Epigenetics explains how the same genome can be interpreted differently, allowing cells and organs to adapt to changing conditions. Why it matters: This research could provide insights into how environmental factors impact gene expression and cell function, potentially leading to advances in understanding and treating diseases.
The KAUST Pathogen Genomics Laboratory (PGL), led by Professor Arnab Pain, is using DNA and RNA sequencing to study the SARS-CoV-2 virus. The lab is part of KAUST's Rapid Research Response Team (R3T), supporting Saudi healthcare stakeholders in combating COVID-19. Pain and his Ph.D. student Sharif Hala are partnering with the Saudi-CDC and Ministry of Health hospitals to sequence Saudi SARS-CoV-2 samples. Why it matters: This effort provides crucial data for understanding and monitoring the virus's spread and evolution within the Kingdom, informing public health strategies.
MBZUAI's Computational Biology department hosted the first Data Carpentry workshop in the UAE, a global initiative focused on foundational data science skills for researchers. The workshop included 35 participants from academia and industry, covering topics like data tidiness, cloud computing, command lines, and data wrangling. 70% of the participants were female, and several were Emirati nationals. Why it matters: This initiative addresses the growing need for computational skills in genomics research, bridging the gap between wet lab experiments and data analysis for scientists in the UAE.