Dr. Bekim Sadikovic. (File photo)

London researchers have won a $4.8-million in funding to test a locally developed screening tool that can help doctors pinpoint difficult-to-diagnose genetic disorders.

The funding will let a team at Lawson Health Research Institute, the research arm of Londons hospitals, undertake three or four years of clinical studies of EpiSign technology.

At this point, we can use this technology to test for almost 50 different conditions, said Bekim Sadikovic, the Lawson scientist who heads London Health Sciences Centres molecular genetics division. Weve been studying this technology to see how far it reaches and how many disorders we can help ultimately diagnose with it.

The research team will recruit 4,000 patients from across Canada for the study. Since EpiSign tests for neurodevelopmental conditions typically noticed in early childhood, most study participants will be younger kids, Sadikovic said.

Detecting some genetic disorders is straightforward: Researchers analyze a patients DNA, comparing it to normal genetic material to find any abnormal genes and make a diagnosis, he said.But sometimes, patents who likely have genetic disorders also have normal DNA structures, sending them on a diagnostic odyssey in search of answers and treatment.

One of the big challenges has been diagnosing these patients, Sadikovic said. Currently we do fairly broad genetic and genomic testing and generally speaking, at best, our diagnostic rate in this population is about 50 per cent.

The teams EpiSign technology takes a deeper look at DNA, examining epigenomes that switch certain genes on and off.Some patients have normal DNA structure, but abnormal epigenomes. The team has pinpointed epigenetic signatures of nearly 50 rare genetic diseases, including developmental and intellectual disabilities such as Fragile X, Angelman and Kabuki syndromes.

With the EpiSign test, doctors draw blood from a patient, examine the DNA and epigenomes and compare the findings to a database of results from thousands of patients curated by London researchers.

The multi-year study will see if there are benefits to using EpiSign as a first-line diagnostic tool.Researchers will see if the new test produces quicker diagnoses, reduces the need for other tests and helps cut health-care costs, Sadikovic said.

The team also aims to increase the number of disorders it can detect.

The research project is funded by LHSC, Illumina, a California-based biotech firm, and Genome Canada, a federally funded national non-profit supporting gene research and technology.

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Lawson team wins $4.8M to test made-in-London genetic disease screening tool - The London Free Press