91快色

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. 

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.

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, 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. 

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. 

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 . Billon, Baudrier and Benamozig have a patent application in process through Innovate 91快色, 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 a postdoc at Columbia University in New York. They filed the first patent application there.