草莓污视频导航

Feb. 7, 2024

草莓污视频导航 researcher develops new tool to diagnose genetic mutations

Pierre Billon's invention designed to get results faster, and easier than current methods
A man in a lab coat bends over various pieces of equipment in a lab
PhD student Jethro Langley uses light to visualize results from the One-pot DTECT kit. Riley Brandt, 草莓污视频导航

Dr. Pierre Billon, PhD, was frustrated with the time it took to get genetic analysis done at specialized private labs. Results of DNA samples that he needed for his research weren鈥檛 available for weeks and sometimes months. Outsourcing to genome facilities was also expensive. Billon was convinced there was another approach that could provide results faster and in a more cost-effective way. With the help of his research associate Lou Baudrier and visiting student researcher Orl茅na Benamozig, they conceived and demonstrated a way to do it.听

鈥淲e鈥檝e developed a method which is so simple to implement and use that any lab, anywhere in the world can readily establish their own kit, to achieve a same-day analysis of genetic mutations for a few cents per sample,鈥 says Billon, assistant professor at the Cumming School of Medicine (CSM). 鈥淲e鈥檙e really excited at our homemade system鈥檚 capabilities and its versatility for various applications in the clinical setting.鈥

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

A man and a woman stand side by side wearing lab coats in a lab while holding their product

Pierre Billon is holding One-pot DTECT, the diagnostic kit he created with Lou Baudrier (left).

Riley Brandt, 草莓污视频导航

鈥淥ne-pot DTECT can confirm the presence of variants and determine the frequency of these mutations precisely,鈥 says Billon. 鈥淎ccurate detection of genomic sequences and their mutations is critical for various application in research and clinical settings.鈥

To demonstrate the accuracy in the clinical context, the researchers reached out to Dr. Nicola Wright, BSc '94, MD '97,听a paediatric hematologist and immunologist at the Alberta Children鈥檚 Hospital. One of Wright鈥檚 areas of expertise is blood disorders, such as sickle cell anemia which is caused by genetic mutations.听

To test whether One-pot DTECT could be effective as a rapid point-of-care diagnostic tool, the researchers conducted a blind study. It involved 21 people: sickle cell anemia patients, people who are carriers of the mutation but do not have the condition, and controls, people without the mutation. The results, detected within the same day, were what the researchers hoped for.

鈥淥ur kit identified the various genetic signatures and clearly distinguished affected individuals from carriers and controls with 100 per cent accuracy and zero per cent false positives or false negatives,鈥 says Billon.

The researchers also confirmed the kit can be used on tiny amounts of DNA, like blood spots.听

鈥淭his has important application for diagnosing newborns and toddlers as it can be difficult to collect blood from children,鈥 says Wright, Barb Ibbotson Chair in Pediatric Hematology. 鈥淏lood spots are easier to obtain and early and accurate diagnosis is crucial for initiating appropriate management and treatment strategies.鈥

Billon adds the kit can be used to diagnose a wide range of genetic mutations for blood and other disorders including cystic fibrosis. Additional details of the methods used to test One-pot DTECT are听. Billon, Baudrier and Benamozig have a patent application in process through Innovate Calgary,听the university鈥檚 knowledge transfer and business incubator centre, which is actively engaging with industry partners for licensing One-pot DTECT to make it available to scientists, clinicians and the patients who need it.

Billon developed the original version of One-pot DTECT when he was听a postdoc at Columbia University in New York. They filed the first patent application there.

Pierre Billon is an assistant professor in the Department of听 at the听 (CSM) and a member of the听 at the CSM. Billon鈥檚 lab is supported by the 草莓污视频导航, Cumming School of Medicine, Arnie Charbonneau Institute,听, Alberta Cellular Therapy and Immune Oncology Initiative. Both Billon and Wright are supported by the听 (CIHR).听

Nicola Wright is a is a听paediatric hematologist and immunologist at the Alberta Children鈥檚 Hospital and a听clinical associate professor in the departments of听 and听 at the Cumming School of Medicine (CSM). She is a member of the听 where she is the听Barb Ibbotson Chair in Pediatric Hematology.听

Orl茅na Benamozig completed her master鈥檚 degree and is now studying at the听 in Israel.听

One Child Every Child

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