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KAUST gene sequencing technology gives new hope to patients

KAUST ·

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.

Mystery diseases solved with RNA screening tool

KAUST ·

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.

Shining a light on the SARS-CoV-2 virus

KAUST ·

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.

Finding Nemo’s genes

KAUST ·

A KAUST-led team mapped the genome of the orange clownfish using the university's Supercomputing and Bioscience Core Labs. The genome contains 26,597 protein-coding genes and is available via the Nemo Genome DB database. The clownfish genome is one of the most complete fish genomes ever produced, comprising approximately 939 million nucleotides. Why it matters: This genomic map provides a crucial resource for understanding reef fish biology and responses to environmental changes like climate change.

Quinoa-quest to feed the world

KAUST ·

A KAUST-led research team sequenced the first high-quality quinoa genome. This achievement may enhance our ability to feed the world's growing population. The research was conducted at King Abdullah University of Science and Technology. Why it matters: This breakthrough in genomics could lead to more resilient and nutritious crops, contributing to global food security efforts.

Many-cell sequencing: machine learning principles and methods for moving beyond single cells to population-scale analysis

MBZUAI ·

A talk discusses the challenges of single-cell data analysis, such as feature sparsity and the effects of rare cells. AI/ML strategies are uniquely positioned to model this data. ImYoo, a startup founded in 2021, is applying single-cell model architectures for unsupervised discovery of patient groupings and predicting sample-level phenotypical data in autoimmune disease. Why it matters: This highlights the growing application of AI/ML in analyzing single-cell data for population-scale human health studies, an area ripe for innovation and improvement in the Middle East's growing biotech sector.

Making sense of silence in gene regulatory networks

MBZUAI ·

MBZUAI researchers collaborated with Carnegie Mellon University and the Broad Institute of MIT and Harvard to develop a new statistical method for analyzing data used for gene regulatory network inference. The method addresses the challenge of distinguishing true zero expression values from dropouts in single-cell RNA sequencing data. This research will be presented at the Twelfth International Conference on Learning Representations (ICLR 2024). Why it matters: Improving gene regulatory network inference can lead to better understanding of disease mechanisms and inform the development of new medicines.

Hacking the SARS-CoV-2 genome

KAUST ·

KAUST researchers are analyzing the SARS-CoV-2 genome to identify potential targets for treatment and vaccine development. They are using the KAUST Metagenome Analysis Platform (KMAP) and the university's supercomputer to compare and analyze genomic data. The research focuses on identifying key genes for detection and treatment of COVID-19. Why it matters: This research contributes to the global effort to combat the pandemic and highlights KAUST's capabilities in genomic data analysis and computational bioscience.