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SAUDI HUMAN GENOME PROGRAM

Saudi Genome Program, whose central laboratory was inaugurated by His Royal Highness the Crown Prince in 2018, is one of the pioneering national programs and the largest genome initiative in the Middle East

Introduction

Allah, the Almighty, created humans in a dignified stature, empowered them to surpass His creations, entrusted them with careful utilization and enhancement of provisions He made available, and mandated them to prosper the planet.

Health and wellbeing underpin humans’ ability to realize their potential. His Royal Highness the Custodian of the Two Holy Mosques has placed the development of healthcare sector at the top of the governments priorities to ensure and augment the wellbeing of our nation.

Launch of the Saudi Genome Program implemented by King Abdulaziz City for Science and Technology (KACST) is a testament to the Government’s attention to the nations’ healthcare services. This program aims at reducing and preventing genetic diseases via implementing reliable screening and detection methods, and creating the physical and legislative infrastructure for development of personalized medicine. This is a substantial medical leap aimed at detecting the genes responsible for genetic diseases in the Kingdom.

Vision

To achieve global leadership in the field of diagnostics to detect and prevent genetic diseases.



Mission

To determine the variants underlying genetic disease in the Kingdom of Saudi Arabia, localize and develop genetic sequencing technologies, the field of genomics and bioinformatics in order to lay the foundation of personalized medicine.

Saudi Genome Program Objectives

  • Building a genetic database for the Saudi population.
  • Limit and prevent the genetic diseases in the Kingdom of Saudi Arabia.
  • Enabling scientists and researchers to benefit from the genetic information in the program.
  • Determining the genetic variants and utilizing them to develop diagnostic and prevention tools to reduce the incidences genetic diseases, and enhancing the community’s well- being.
  • Establishing an advanced infrastructure in the field of genomics and bioinformatics.
  • Improving treatment methods based on the patient’s genetic makeup.
  • Utilizing next generation sequencing technologies to collect and analyze 100 thousand samples.
  • Training and developing national cadres in the field of genomics.

Technologies used

The Genome sequencing facilities includes using the following technologies:

  • Illumina NovaSeq for whole genome and whole exome sequencing.
  • Ion Proton and S5 XL for whole exome and gene panel sequencing.
  • Sanger Sequencing for single DNA fragment sequencing.
  • Genotyping SNP arrays for calling selected set of variants.

Bioinformatics

The infrastructure of bioinformatics is designed to process thousands of genomes generated annually. The design is modular, allowing hardware expansion at minimum effort. The infrastructure can be flexibly expanded by using cloud-computing resources in an automated manner.

  • The infrastructure of bioinformatics is distributed over different satellite sites, each of which is characterized by an infrastructure with different capabilities, and runs certain primary analysis pipelines.
  • The center computational unit is located in KACST, and all satellite centers are connected to it, for the purpose of providing a backup and performing a secondary analysis tasks.

Sequenced

56799 Total Samples

Researches 604

who are database users

Identification of

7500

variants of which 3000 are novel mutations causing 1,230 rare genetic disorders.

Participating
25
Researchers

Published 131

peer-reviewed scientific papers in various international journals.

Conducted


Studies

Collaborated with

national centers in the Kingdom

More than

scientific lectures and conferences.

Recruiting and training Saudi cadres.

...

Visual Library

  • Inauguration of The Central Human Genome Laboratory
  • The Crown Prince puts the cornerstone of 7 strategic projects
  • Photos about Saudi genome

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