In this milestone episode, we welcome Dr Matthew Hurles, geneticist and pioneer in the field of human genomics. Dr Hurles has dedicated his career to unravelling the secrets hidden within our DNA, as well as harnessing cutting-edge research to revolutionise our understanding of genetic disorders, human evolution, and the potential for personalised healthcare. Join Patrick and Matt as they delve into the frontiers of genomic science, from the implications of newborn screenings to emerging technologies and the transforming role of researchers. 0:00 Intro 1:55 Genetics in the ’90s compared to genetics today 4:30 Work-life balance in science 8:00 Deciphering Developmental Disorders (DDD) study 13:10 New technologies in genome sequencing 14:45 How far are we from using next-generation sequencing as standard for diagnosing rare disease? 17:10 The Industrialization of genomics research 21:10 Will we move to a world where everyone is sequenced at birth? 25:20 Uses for cellular assays in healthcare and research 27:15 Bridging the gap between rare and common diseases 31:35 Birth cohorts and newborn screening studies 33:30 The power of early diagnosis and intervention with genomics 36:30 Open access databases 38:40 Advice for early-career researchers 41:20 Future directions for the Wellcome Sanger Institute 43:30 Applications of artificial intelligence and machine learning in genomics 45:30 Thank you 46:50 Outro