Professor Matthew Hurles: The Sherlock Holmes moment

The genome itself was the beginning of a whole technological
revolution. Matt and Chris talk about taking on the
challenge, searching for the needle in the haystack, and
making it work at scale! Join Chris and population geneticist
Prof Matthew Hurles this week as they delve into the genetic
detective work and the future of research while engaging the
research and participant community. If you're a student wanting
to get into the field, Matt gives his take on how to go about it.


 


You can find our transcript here –
https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Matthew-Hurles.docx.


 


“The reference datasets of normal population variation in
individuals of African ancestry are just smaller, and therefore
less powerful than the ones of European ancestry. What we really
need to do is enrich those African ancestry population datasets,
that's something we really can hit on. I think that's a real
global challenge."


 


Prof Matt Hurles is Head of Human Genetics at the Wellcome Sanger
Institute and Senior Group Leader of The Hurles Group. He is
also the founder of Congenica and an honorary professor of Human
Genetics and Genomics at the University of Cambridge. He leads
the Deciphering Developmental Disorders (DDD) Study and the
Prenatal Assessment of Genomes and Exomes (PAGE) Study. He
also led the DECIPHER initiative that is enabling rare disease
patients to share anonymised genetic and clinical data
globally.