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KAUST scientists link gene to pediatric heart defects

KAUST · · Research Healthcare

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.

Unravelling the secrets of modern wheat genetics

KAUST · · Research Healthcare

KAUST researchers have developed a genomic resource for Tausch’s goatgrass (Aegilops tauschii), a wild relative of wheat, by creating 46 high-quality genome assemblies. They compiled 493 genetically distinct accessions from an initial 900, collaborating with the Open Wild Wheat Consortium to select accessions with traits of interest, such as disease resistance and stress tolerance. Screening these assemblies helped identify rust resistance genes, including mapping a stem rust resistance gene to the Sr33 locus. Why it matters: This genomic resource will accelerate gene discovery in wheat, potentially improving modern wheat varieties and enhancing global food security.

KAUST team explores short-term genetic memories

KAUST · · Research Healthcare

A KAUST team developed piRNAi, a gene-silencing tool in nematode worms using synthetic RNA sequences interacting with the piRNA pathway. They successfully silenced genes involved in sex determination and other functions, demonstrating multiplexed gene silencing. The gene silencing lasted for varying durations across generations, up to six generations. Why it matters: This expands the molecular toolkit for gene manipulation and offers potential therapeutic applications in humans, given the presence of the same gene-silencing pathway.

Polygenic Score Modeling to Investigate Genotype-Phenotype Associations

MBZUAI · · Research Healthcare

Carlo Maj from the University of Marburg will discuss using polygenic modeling to analyze the genetic architecture of multifactorial traits. He will present how these approaches can be used to predict the genetically driven components of complex phenotypes. The talk highlights the potential of these methods to bridge genomic research and genetic epidemiology using biobank data. Why it matters: Such methods could improve disease risk assessment and advance personalized risk management in the region if applied to local biobanks or datasets.