Creating a Zero-Waste Campus

IMPROVING HEALTH USING ADVANCED TECHNOLOGIES

The Bioscience Core Lab offers unique instruments for studying the composition of genes and proteins

KAUST’s Bioscience Core Lab is a cutting-edge facility that supports advancements in genomics, proteomics and bioinformatics. While genomics is the study of genes, and proteomics is the study of proteins, bioinformatics is the computational analysis of these genes and proteins. Home to analytical equipment found nowhere else in Saudi Arabia, the Bioscience Core Lab is a unique facility for the quantitative and qualitative analysis of genes and proteins.

The laboratory has a number of mass spectrometry systems for proteomics that are unavailable elsewhere in the country. In addition to specialized instruments and processes, the experiments conducted by the laboratory typically require a great deal of customization depending on the characteristics of the sample.

NICOLE CHEUNG Director, Bioscience Core Lab

One such example is UHRF1, a protein that is abnormally abundant in cancer cells. Papita Mandal, a staff scientist in the Bioscience Core Lab, was interested in how she could control the conformation of this protein, which in turn determines its function. “This protein is very flexible and can acquire several 3D conformations,” she said. “Because of this, there were few techniques that could be used for our experiments.” As part of her research, she utilized hydrogen-deuterium exchange mass spectrometry, making KAUST’s core lab the only facility in the Kingdom that is capable of studying the conformational changes of this cancer-related protein. THE BIOSCIENCE CORE LAB IS THE ONLY PLACE IN SAUDI ARABIA THAT HAS EXPERTISE IN PACBIO SEQUENCING, THE MOST ACCURATE LONG-READ GENE SEQUENCING TECHNOLOGY AVAILABLE ON THE MARKET.

Genome sequencing involves cutting DNA into small strands, reading them with a sequencer and reassembling them computationally using bioinformatics. With this approach, scientists are able to identify mutations and other abnormalities that are responsible for the disease. The smaller the strands, the more difficult it is to reassemble them; however, thirdgeneration sequencers like the ones used in the Bioscience Core Lab can

KING FAISAL SPECIALIST HOSPITAL & RESEARCH CENTER

“We were taken aback by the superior quality of the runs after we re-ran these samples at the Bioscience Core Lab, and this made all the difference in our subsequent analyses. From that moment on, this core lab became my trusted go-to partner.”

Fowzan Alkuraya , Professor of Human Genetics, Principal Clinical Scientist and Senior Consultant, KFSH&RC

do the analysis with longer reads, which results in more reliable data. For this purpose, the laboratory’s PacBio third-generation sequencing technology, such as the Sequel IIe system, is considered the top in its field.

Such research is especially important in Saudi Arabia because of the combination of large families and homogeneity, which has resulted in the notable presence of autosomal recessive disorders with severe – if not fatal – symptoms. In collaboration with the Riyadh-based King Faisal Specialist Hospital & Research Center (KFSH&RC), the Bioscience Core Lab began sequencing patient samples in July 2022 to shed new light on these conditions. The laboratory plans to study the genomes of 34 pediatric patients who suffer from a range of rare genetic diseases.

The aim of the project, which will be the first to use PacBio instruments to study these kinds of diseases in Saudi Arabia, is to provide patients with diagnoses so that parents understand the risks when considering whether or not to have children.

“The lessons we learn from cracking tough cases inform our diagnostic pipeline for future cases. This can boost the diagnostic yield for all future patients,” said KFSH&RC Professor of Human Genetics, Principal Clinical Scientist and Senior Consultant Dr. Fowzan Alkuraya. Alkuraya and his colleagues at KFSH&RC utilize the Bioscience Core Lab’s technology, and there are several ongoing collaborations between the two entities.