Individualized medicine enabled by genomics in Saudi Arabia

Abstract

The biomedical research sector in Saudi Arabia has recently received special attention from the government, which is currently supporting research aimed at improving the understanding and treatment of common diseases afflicting Saudi Arabian society. To build capacity for research and training, a number of centres of excellence were established in different areas of the country. Among these, is the Centre of Excellence in Genomic Medicine Research (CEGMR) at King Abdulaziz University, Jeddah, with its internationally ranked and highly productive team performing translational research in the area of individualized medicine. Here, we present a panorama of the recent trends in different areas of biomedical research in Saudi Arabia drawing from our vision of where genomics will have maximal impact in the Kingdom of Saudi Arabia. We describe advances in a number of research areas including; congenital malformations, infertility, consanguinity and pre-implantation genetic diagnosis, cancer and genomic classifications in Saudi Arabia, epigenetic explanations of idiopathic disease, and pharmacogenomics and personalized medicine. We conclude that CEGMR will continue to play a pivotal role in advances in the field of genomics and research in this area is facing a number of challenges including generating high quality control data from Saudi population and policies for using these data need to comply with the international set up.

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

“…Such findings are explained by high rates of consanguineous marriages in Saudi population especially first cousin marriages . Consanguineous marriages are prevalent in the Saudi society and are estimated between 51 and 56% of which around 30% being first degree cousins . Because of this high consanguinity rate, the prevalence of autosomal recessive disorders in general and IEM in specific is exceedingly high causing great social impact and heavy economic burden.…”

Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

“…These bring to six, the number of patients of Arab origin with this rare syndrome; however the mutations in STAMBP are unique in each family. We have also demonstrated the power of exome sequencing to facilitate diagnosis in patients with rare genetic disorders [Abu‐Elmagd et al, ].…”

Next generation sequencing (NGS): a golden tool in forensic toolkit

“…Są to dynamicznie rozwijające się dyscypliny w związ-ku z szybkim postępem w genotypowaniu i technologii NGS. Umożliwiają skanowanie genomu z zachowaniem wysokiego poziomu rozdzielczości [45]. Znaczenie danych dostarczanych przez PGt i PGx w kontekście badań pośmiertnych polega na ustalaniu przyczyny i rodzaju zgonu [33,43].…”

“…The emerging toxicogenomics field (the use of gene-expression profiling in toxicology) represent an interesting approach to predict toxicity and to understand the mechanism of action of the compounds under study [44]. These are rapidly evolving fields due to the rapid advances in genotyping and NGS technologies could scan the genome at high levels of resolution [45]. The PM significance of data from PGT/PGx is to determine cause of death and mode of death [33,43].…”