Recent advancements in genetic testing have not completely solved the problem of diagnosing Mendelian genetic disorders, with over half of individuals globally still lacking an accurate molecular diagnosis. Many patients endure prolonged diagnostic processes, sometimes taking over six years.
To address this issue, researchers from KAUST and other institutions in Saudi Arabia have developed a new method called NanoRanger, which offers a rapid and precise diagnostic solution. This development, reported in the journal Med, aims to significantly improve diagnostic accuracy and efficiency.
NanoRanger promises to address the urgent need for precise and efficient genomic diagnosis, which is crucial for better patient outcomes and effective carrier screening.
Yingzi Zhang, a Ph.D. candidate at KAUST, emphasized that this study supports Saudi Arabia’s Vision 2030 by promoting healthcare innovation to enhance citizens’ quality of life. The technique aligns with broader goals of advancing medical technology and improving patient care.
Mendelian disorders are genetic conditions resulting from changes in single genes or specific genomic segments. These conditions often involve complex structural variants such as deletions or rearrangements, which can be difficult to detect with traditional screening methods.
The challenge is compounded in regions with high consanguinity rates, where such disorders are more common due to shared genetic backgrounds among relatives.
NanoRanger utilizes straightforward molecular biology techniques to detect these complex mutations by isolating and analyzing specific genomic regions. It operates on minimal DNA samples, using restriction enzymes to create fragments with matching end sequences.
These fragments are then circularized and amplified, allowing for targeted sequencing using long-read technology from Oxford Nanopore Technologies. This approach allows NanoRanger to accurately map genomic breakpoints at a single base-pair level, providing rapid and detailed diagnostic information.
In clinical trials conducted with Saudi clinicians at King Faisal Specialist Hospital & Research Center, NanoRanger successfully identified previously missed breakpoints in familial cases of genetic disorders.
This achievement led to effective carrier screening and influenced decision-making in cases like in vitro fertilization for a couple carrying a genetic deletion. With a patent filed, the team plans to integrate NanoRanger into standard diagnostic procedures, aiming to enhance genetic testing both in Saudi Arabia and internationally.
