Researchers create new tool to quickly diagnose genetic mutations

Dr. Pierre Billon, Ph.D., was frustrated by the time it took to have genetic analyzes performed in specialized private laboratories. The results of the DNA samples he needed for his research would not be available for weeks, if not months. Outsourcing to genome centers was also costly.

Billon was convinced there was another approach that could deliver results faster and more cost-effectively. With the help of his research associate, Lou Baudrier, and visiting student researcher, Orléna Benamozig, they designed and demonstrated a way to achieve this.

“We have developed a method that is so simple to implement and use that any laboratory, anywhere in the world, can easily create their own kit, to perform same-day analysis of genetic mutations for just pennies per sample,” says Billon, an assistant professor at the Cumming School of Medicine (CSM). “We are really excited about the capabilities of our in-house system and its versatility for various applications in clinical settings.”

The system, called One-pot DTECT, is a compact kit containing several unique enzymes and DNA fragments that reveal and detect genetic signatures. Genetic data can be analyzed in three ways: quantitatively, qualitatively and visually.

“The One-pot DTECT can confirm the presence of variants and accurately determine the frequency of these mutations,” explains Billon. “Accurate detection of genomic sequences and their mutations is essential for various applications in research and clinical settings.”

To demonstrate accuracy in the clinical setting, researchers contacted Dr. Nicola Wright, BSc ’94, MD ’97, a pediatric hematologist and immunologist at Alberta Children’s Hospital. One of Wright’s areas of expertise is blood disorders, such as sickle cell anemia, caused by genetic mutations.

To test whether One-pot DTECT could be effective as a rapid point-of-care diagnostic tool, researchers conducted a blinded study. It involved 21 people: sickle cell patients, people carrying the mutation but not suffering from the disease, and controls, people not carrying the mutation. The results, detected the same day, corresponded to what the researchers hoped for.

“Our kit identified the different genetic signatures and clearly distinguished affected individuals from carriers and controls with 100 percent accuracy and zero percent false positives or false negatives,” says Billon.

The researchers also confirmed that the kit could be used on small amounts of DNA, such as bloodstains.

“This has important application for diagnosing newborns and toddlers, because it can be difficult to draw blood from children,” says Wright, the Barb Ibbotson Chair in Pediatric Hematology. “Bloodstains are easier to obtain, and early and accurate diagnosis is crucial to initiating appropriate management and treatment strategies”

Billon adds. The kit can be used to diagnose a wide range of genetic mutations linked to blood and other disorders, including cystic fibrosis. Additional details on the methods used to test One-pot DTECT are published in Cell Reporting Methods.

Billon, Baudrier and Benamozig filed a patent application through Innovate Calgary, the university’s knowledge transfer and business incubator center, which is actively collaborating with industry partners to license One -DTECT pot in order to make it available to scientists, clinicians and patients. who needs it. Billon developed the original version of One-pot DTECT while he was a postdoctoral fellow at Columbia University in New York. They filed the first patent application there.