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Targeting Genetic Disease in Saudi Arabia

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The Saudi Human Genome Project is the largest of its kind, seeking to combat genetic disease and lay the foundation for personalized medicine across the Kingdom

30 Sept 2015
Lois Manton-O'Byrne, PhD
Executive Editor

Editorial article

Targeting genetic disease in Saudi Arabia

The Saudi Human Genome project (SHGP) is a national research project focusing on mapping the genome of the Kingdom, to study the genetic basis of disease and lay the foundation for the development of personalized or precision medicine across the Middle East.

Saudi Arabia has a high incidence of genetic disease, from inherited diseases to more common diseases such as diabetes, which affects more than 20% of the population. This three-year project is the largest disease gene discovery project undertaken; SelectScience spoke to Dr. Fowzan Alkuraya, Senior Scientist at King Faisal Specialist Hospital and Research Center, to find out more about this mammoth task.

"The SHGP is a multi-prong initiative that aims to advance human genomic research in Saudi Arabia and to take advantage of the unique population structure in the country," Dr Alkuraya explained. As well as sequencing the Saudi Arabian genome, the SHGP also aims to provide "advanced sequencing solutions to local scientists" who are conducting human genetic research − for example, Dr Alkuraya.

"I have been closely working with SHGP to come up with ways that make genomic research as translational as possible and have recently published an effort to 'democratize' genetic testing by simplifying the choice of the right genes to be tested in a wide range of clinical scenarios using an inexpensive and user-friendly assay, the Mendeliome assay," he revealed.

Saving Saudi Arabia's vision

One disorder that Dr Alkuraya is studying is retinal dystrophy (RD), a collection of chronic and progressive disorders where vision deteriorates in both eyes. RD is a "nightmare" when it comes to genetic testing, said Dr Alkuraya, as there are "dozens of genes that can be mutated". Furthermore, even if all known genes are tested, some patients may be without a diagnosis because "there are always more genes to be discovered". However, Dr Alkuraya believes it is worth the trouble: "An increasing number of genes are amenable to gene therapy. And besides, knowing the mutation is critical for informed family planning."

"The power of Next Generation Sequencing (NGS)" was vital in allowing Dr Alkuraya to screen "virtually all known RD genes" quickly and inexpensively, allowing him to efficiently distribute his gene hunting efforts. "This approach allowed us to not only identify the causal mutation in the majority of patients, but also identify three novel candidate genes," he explained. Using the Ion Proton™ sequencer and Ion AmpliSeq™ technology was straightforward, providing an assay that was flexible, fast and cheap, Dr Alkuraya continued.

Interest was particularly high in prevention. Dr Alkuraya used "early prenatal diagnosis, pre-implantation genetic diagnosis, cascade carrier testing and premarital testing", with many of his patients opting for one of these strategies. Dr Alkuraya has already been able to refer a number of patients to ongoing gene therapy trials and is hopeful that he will help many more.

Learn more about NGS by visiting our dedicated page.

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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.High-Content ScreeningHigh-content screening (HCS), also known as high-content analysis (HCA), is a high-throughput technique used in drug discovery to identify substances that alter the phenotype of cells. HCS uses fluorescent microscopic imaging and automated image analysis to investigate cellular events such as apoptosis, cell viability, GPCR activation, oxide production, neurite outgrowth, and cell signaling. Find the best fluorescent labeling reagents, cellular assays, and high-content imaging systems in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.DNA / RNA Extraction and PurificationPurified DNA and RNA are required for numerous downstream molecular biology applications. Consequently, the importance of high-quality DNA/RNA extraction and purification equipment cannot be underestimated. Many purification kits are available and are typically optimized for nucleic acid type and source, including plasmid DNA, genomic DNA, mRNA, RNA and viral nucleic acid purification kits. Automated extraction and purification of nucleic acids can be implemented with magnetic bead separator instruments or high-throughput purification workstations. Find the best DNA/RNA extraction and purification equipment in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.DNA SequencingDNA sequencing, such as sanger sequencing, is a biological technique that determines the precise order of nucleotide bases in a fragment or template of DNA. DNA sequencers and genetic analyzers are based on capillary electrophoresis, where labeled DNA fragments are electrophoretically separated by size as they migrate through a polymer. Find the best DNA sequencing products, including DNA sequencing kits, genomic libraries and genetic identity kits in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Discovery SoftwareComputational techniques used in both the chemistry and biology aspects of drug discovery, for data acquisition, processing and storage. Software is used for analysis of pathways, target identification, genomics, proteomics, modelling, lead identification, compound analysis and drug modelling among many others. DiabetesDiabetes is a metabolic disorder characterized by high blood sugar levels, either due to insufficient insulin production or resistance to its effects. Ongoing diabetes innovation focuses on developing better diagnostic tools, treatments, and preventive measures. Browse our peer-reviewed product directory to find the best diabetes diagnostic tools, compare products, check reviews, and get pricing directly from manufacturers.Genome SequencingGenome sequencing involves determining the complete DNA sequence of an organism's genome. It provides crucial information about genetic variations, mutations, and diseases. Advances in sequencing technologies, such as next-generation sequencing (NGS), have accelerated research in genomics, diagnostics, and personalized medicine. Explore genome sequencing tools in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.Genetic VariationGene TherapyGene therapy is a technique that modifies or replaces genes within an individual's cells to treat or prevent diseases. This approach holds potential for curing genetic disorders, cancers, and certain viral infections. Advances in gene editing technologies like CRISPR are driving the growth of gene therapy. Explore gene therapy tools and technologies in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.Precision MedicinePrecision medicine refers to the idea of customized healthcare, where medical decisions and treatments are tailored to the individual patient. Molecular diagnostics, companion diagnostics and Next Generation Sequencing (NGS) play a pivotal role in this approach.

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