In this milestone episode, we welcome Dr Matthew Hurles, a 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 that is revolutionizing 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 The work-life balance of a geneticist
8:00 Deciphering Developmental Disorders (DDD) study
13:10 New technologies in sequencing
14:45 How far are we from using genetic screens as our first course of diagnosis?
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 upcoming researchers: the venn diagram
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