KAUST collaborates with KFSHRC on new Gene Sequencing Technology to combat genetic disorders

SAUDI ARABIA—Researchers at King Abdullah University of Science and Technology (KAUST) and the King Faisal Specialist Hospital and Research Centre (KFSHRC) have developed NanoRanger, an innovative gene sequencing technology.

This innovative tool promises to provide a cheaper and faster diagnostic solution for patients suffering from genetic diseases caused by unknown mutations.

Gene sequencing has emerged as a major diagnostic approach for finding mutations that cause genetic disorders.

Despite their importance, technological limitations have rendered many mutations untraceable.

Mendelian diseases such as muscular dystrophy and sickle cell anaemia are among the best investigated using gene sequencing methods.

Saudi Arabia has a high proportion of consanguinity, accounting for almost 80% of rare diseases affecting more than 400 million people worldwide.

NanoRanger, which builds on existing long-read sequencing technology, provides a faster and simpler method for detecting DNA abnormalities at the base level, such as structural variations.

To better grasp the precision of this resolution, consider that human DNA comprises four different base types, and the human genome is almost 6 billion bases long.

A single base mutation can result in devastating disorders such as sickle cell anaemia or cystic fibrosis.

NanoRanger’s diagnostic skills extend beyond the patient, offering vital information to parents who may not have been aware that they were carriers of specific genetic risks.

KAUST Associate Professor Mo Li, whose research created NanoRanger, stated that, while tremendous progress has been achieved in understanding Mendelian diseases through gene sequencing, many remain misdiagnosed, necessitating long-read sequencing for proper diagnosis.

Traditional gene sequencing is based on short-read sequencing, which has yielded useful insights into hereditary illnesses.

However, short-read sequencing cannot analyze many complex DNA structures, particularly those prevalent in rare Mendelian illnesses.

Although long-read sequencing fills these gaps, it is usually more expensive and technically challenging.

Li emphasized that NanoRanger improves various processes in conventional gene sequencing methods by using simple molecular biology strategies to identify genomic regions suspected of containing complicated mutations, deletions, or rearrangements.

To show NanoRanger’s medical benefits, KAUST scientists analyzed clinical samples from 13 patients in partnership with Professor Alkuraya of KFSHRC, discovering previously undetectable genetic anomalies.

Two major commercial firms around the world provide long-read sequencing devices.

KAUST is Saudi Arabia’s first certified service provider for both, and one business has shown interest in further developing and commercializing NanoRanger.

Professor Li concluded by stating that they have applied for a patent and intend to incorporate NanoRanger into normal diagnostic procedures in Saudi Arabia.

KFSHRC extends JCI Accreditation

Meanwhile, KFSHRC has renewed its accreditation as an Academic Medical Centre from the Joint Commission International (JCI) for three additional years.

This renewal upholds the prestigious accreditation first granted in 2000, making KFSHRC the first healthcare institution in Saudi Arabia to achieve this distinction.

The accreditation reflects the hospital’s commitment to providing tertiary healthcare in accordance with the highest international standards.

In 2014, KFSHRC became the first hospital in the Kingdom to be accredited as an Academic Medical Centre by JCI, a program designed by healthcare experts worldwide to inspire positive change, encourage continuous quality improvement, decrease risks, and foster a patient safety culture.

This recognition highlights the hospital’s dedication to high-quality care and comprehensive patient safety standards.

The JCI standards are designed by healthcare experts worldwide to drive positive change, support continuous quality improvement, reduce risks, and build a patient safety culture.

Moreover, according to the 2024 Brand Finance rankings for the second consecutive year, KFSHRC has been ranked first in the Middle East and Africa and 20th globally among the world’s top 250 Academic Medical Centres.