KAUST develops new technology to save patients with genetic mutations
King Abdullah University of Science and Technology (KAUST) has achieved a new scientific breakthrough by developing a new genetic sequencing technology known as NanoRanger . This technology represents a revolution in the field of diagnosing genetic diseases, as it provides much higher accuracy and speed than traditional technologies, and opens new horizons for treating rare genetic diseases.
Genetic diseases, especially Mendelian diseases, are among the world’s greatest health challenges, especially in societies with high rates of consanguineous marriages. The KAUST study focused on developing the NanoRinger technology to accurately diagnose these diseases, in collaboration with King Faisal Specialist Hospital and Research Center.
Genetic diseases studied using the new gene sequencing technology include Mendelian diseases, which are diseases caused by a defect in a single gene; muscular dystrophy and sickle cell anemia are examples of these Mendelian diseases.
Mendelian diseases represent more than 80% of the rare genetic diseases that affect more than 400 million people around the world, and due to the high rate of consanguineous marriage in the Kingdom of Saudi Arabia , Mendelian diseases are among the most common genetic diseases there.
How does Nano Ranger work?
The study revealed that genetic diseases occur as a result of mutations in genetic genes. Each of the more than 60,000 genes in the human body is represented by two copies of an allele - an alternative copy or form of the gene or chromosomal location - one from the mother and the other from the father. Mutations are found in almost both alleles in most Mendelian diseases.
If the mutation is present in only one allele, the person is a carrier of the disease, meaning that he or she does not suffer from the disease, but his or her offspring are at risk. If both parents carry the disease, they may pass this genetic mutation on to their children. As a result, the family of a person with a Mendelian disease has a much larger number of carriers. Therefore, societies where consanguineous marriage is common show a very high prevalence of Mendelian diseases, which are often responsible for infant mortality and morbidity in Arab countries.
Professor Mo Li , a professor at KAUST and developer of the NanoRanger Lab, explained that this study has revealed a lot about Mendelian diseases through the gene sequencing process, noting that there are still many other diseases that are undiagnosed and require long-read sequencing to accurately diagnose them.
Professor Lee pointed out that genomic sequencing is a standard tool in medical genetics, and the original genomic sequencing was based on short-read sequencing, which provided valuable information about genetic diseases. However, short-read sequencing is unable to analyze some complex DNA structures, including those commonly found in rare Mendelian diseases. Therefore, long-read sequencing is important in filling these knowledge gaps, but it is more expensive and technically demanding.
He explained that human DNA is made up of billions of bases, and that NanoRanger technology takes advantage of the latest long-read gene sequencing technologies to provide a faster and more accurate way to detect genetic mutations, including complex changes in DNA structure. The importance of this accuracy lies in the fact that any small change in the DNA sequence, even if it is in just one base, can lead to serious genetic diseases such as sickle cell anemia.
Professor Lee emphasized that the NanoRanger technology relies on improvements in conventional gene sequencing techniques, enabling it to detect complex genetic mutations with high accuracy. He pointed out that KAUST scientists used the technology to analyze clinical samples from 13 patients as part of a research collaboration with Professor Fawzan Alkuraya of King Faisal Specialist Hospital and Research Center, which allowed for the diagnosis of cases that were previously undetectable.
This technology can also help identify carriers of genetic diseases, allowing for the necessary genetic counseling to be provided to concerned families.
Professor Mo Li said that using the information gained from the NanoRanger technology, one couple chose to conceive via in vitro fertilization to ensure that their child would not inherit a disease for which they both carry the mutation, meaning the technology helped prevent the disease from being passed on to the next generation.
Nano Ranger technology attracts the attention of major global companies:
NanoRanger has been a huge success internationally, with two global gene sequencing companies showing strong interest.
KAUST has become the first institution in Saudi Arabia to be certified as an authorized provider of this technology by both companies. One of them has approached Professor Mo Li’s company about further developing and commercializing the NanoRanger technology, an achievement that reflects the high commercial value of this technology and indicates its potential to be transformed into a global product.
In addition, KAUST has filed a patent application and plans to integrate NanoRinger technology into standard diagnostic procedures in Saudi Arabia.
Practical applications of technology:
- Diagnosis of genetic diseases: The technology can be used to diagnose a wide range of genetic diseases, including: Mendelian diseases and complex diseases.
- Helping families: This technology helps identify carriers of genetic diseases quickly and accurately, allowing the necessary counseling to be provided to concerned families to avoid passing genetic diseases on to their children.
- Developing new treatments: Data obtained through this technology can help researchers develop new treatments for genetic diseases.
Promising future:
NanoRinger is a major scientific breakthrough that holds great promise for improving the lives of millions of people around the world who suffer from genetic diseases. It is expected to contribute significantly to the development of the field of genetic medicine in the coming years.