Today's guest is David Neville, Head of Machine Learning at Nostos Genomics in Berlin. Nostos Genomics partners with genetic testing labs to give more people with genetic diseases a fast and clear diagnosis. Over 300 million people live with a rare genetic disease and for most, the journey from the first symptoms to a diagnosis can take years. 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.
However, the last step in genetic testing – interpreting mutations – remains laborious and costly. 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 a diagnosis. Nostos Genomics platform leverages a unique combination of machine learning and synthetic biology to characterize mutations at scale and automate the interpretation. By offering it to labs, they enable them to diagnose more people in a fraction of the time.
In the episode, David will discuss:
How he got into the world of AI,
Nostos Genomics impact within rare genetic diseases,
Problems they are solving through leveraging AI,
The importance of XAI in the Healthcare sector, and
What the future holds for AI in Healthcare
