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.
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.
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.
A KAUST alumnus presented research on using large language models for complex disease modeling and drug discovery. LLMs were trained on insurance claims of 123 million US people to model diseases and predict genetic parameters. Protein language models were developed to discover remote homologs and functional biomolecules, while RNA language models were used for RNA structure prediction and reverse design. Why it matters: This work highlights the potential of LLMs to accelerate computational biology research and drug development, with a KAUST connection.
KAUST Ph.D. student Asma Al-Amoodi received the 2019 L’Oréal-UNESCO For Women in Science Middle East Fellowship for her work on stem cell treatments for hematological diseases. Her research focuses on improving the migration of hematopoietic stem cells to the bone marrow after transplantation. Al-Amoodi was granted €8,000 to support her doctoral research at KAUST under the supervision of Associate Professor Jasmeen Merzaban. Why it matters: The fellowship highlights the increasing role of women in STEM in Saudi Arabia and supports research with potential therapeutic impact.
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.
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 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.