A state-of–the-art facility to study the human genome is set to ramp up operations over the next year at a unique centre being established at the Sidra Medical and Research Centre in Doha.
The human genome is the complete set of genetic information for humans encoded as DNA sequences within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
Sidra will house the first-of-its-kind facility, the High-Throughput Genomics Centre, to undertake population studies and genetic sequencing for the Middle East and North Africa (Mena) region.
According to an announcement on the website of Illumina, the leading partner of the project, the facility will provide Qatar and the region access to the latest technology to help advance genetic mapping projects. The facility’s early phase of development is the creation of the Arab consensus genome, which will allow for a deeper understanding of genetic variants that contribute to the health of the Arab population.
Sidra, Illumina Inc. and Alliance Global, Illumina’s partner in the Middle East, will work together to implement next-generation sequencing technologies at Sidra’s new High-Throughput Genomics Center, set to ramp up operations over the next year. The initial focus of the facility will cater primarily to high-end applications, including human whole genome sequencing for rare genetic diseases and population studies using Illumina’s ultra-high-throughput HiSeq X Ten Sequencing System.
Genome sequencing and population studies are an exciting new field of research, enabling scientists to create truly personalised care based on an individual’s own genetic makeup. It will also help improve the speed and accuracy of diagnosis for many diseases.
“Implementing genomic medicine in and around Qatar requires an Arab reference genome set that will provide an in-depth knowledge of genetic variations in the population group. The new level of sequence-based knowledge of genetic variation will allow us to implement genomic medicine systematically and on a large scale. This will help Sidra to lead the way in personalising medical treatment and delivering the highest level of care to women and children. What we are trying to achieve is a forward looking research and healthcare model that will also benefit future generations,” the website quoted Sidra’s Chief Research Officer Dr Francesco Marincola, as saying.
Sidra will use insights gained from understanding the population genome to improve patient outcomes, by offering a more rapid and comprehensive diagnostic solution.
The new facility will deliver research programmes which align with the National Qatar Genome Strategy in prioritising translational research.
Earlier this year Genomic research identified 37 variants in 33 genes associated with inherited diseases in the Qatari population, which potentially could be used to make premarital genetic screening more effective.
“Many of the 3,500 or so genetic diseases are known to manifest symptoms within the first month of a child’s life and targeted tests will enable biomedical markers to be identified earlier. For example, testing women for the BRCA gene mutation, which is linked to a higher risk of developing breast cancer, can lead to early diagnosis and treatment, increasing the chances of survival,” continued Dr Marincola.
Sidra’s High-Throughput Genomics Centre will deliver leading research programmes that align with the Qatar National Research Strategy, prioritising translational research that will bring the latest scientific discovery to the bedside.
“We are very excited to be part of this landmark initiative in Qatar. Sidra’s High-Throughput Genomics Centre, powered by Illumina sequencing technology, has the opportunity to become a genomics centre of excellence in the Middle East. Our technology will help drive a sequencing programme on a national population scale with the goal of creating actionable information to improve the human condition,” said Rick Klausner, Chief Medical Officer of Illumina.
Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function.
