EP100: Decoding DNA and engineering biology: perspectives on the future of genomics with Dr. Matthew Hurles, Director of the Wellcome Sanger Institute.

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