AI-driven deciphering of genetic diseases
Over 300 million people live with a rare genetic disease and for most, the journey from the first symptoms to a diagnosis takes more than 5 years. Even after that, diagnoses are often incorrect, and many people end up not being diagnosed at all. Now, new technology is allowing millions to benefit from genetic testing for diagnosis, while at the same time targeted therapies for previously untreatable disorders are being developed. But the last step in genetic testing ? interpreting mutations ? remains laborious and costly. It can take a lab weeks to interpret data from a single patient. Because of limited understanding of the consequences of mutations, the test results are often inconclusive and leave 70% of people undergoing a genetic test without diagnosis. Our platform leverages machine learning and synthetic biology to characterize mutations at scale and automate the interpretation. By offering it to labs, we enable them to diagnose more people in a fraction of the time.