Over $7 million in funding guarantees research towards diagnosis of rare diseases
Researchers at London Health Sciences Centre are expanding an artificial intelligence driven diagnosing tool for rare genetic diseases called EpiSign™. (Source: London Health Sciences Centre)
Researchers at London Health Sciences Centre are expanding an artificial intelligence driven diagnosing tool for rare genetic diseases called EpiSign™.
"We have developed the largest database in the world of patients with various different genetic diseases. We use the database to develop specialized software," says Dr. Bekim Sadikovic, LHSC Genomics Research Chair.
Researchers say it takes up to seven years to properly diagnose some rare genetic diseases, but with EpiSign™, that timeline could be drastically reduced with a single blood test.
"To receive specialized care, you need a specific genetic diagnosis. Without one, you can't access therapy and, unlike other types of diseases, genetic diseases don't only affect the patient, they affect whole family because they can be inherited."
The technology has been 10 years in the making, but with a $7.5 million dollar grant, it will be expanded to labs in 15 countries around the world.
70 per cent of rare genetic diseases go undiagnosed.
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