Mendelian genetics in a post-genomic era: insights from the smallest people in the world

This is a hybrid event - with the speaker attending in-person and viewable on Teams.

Sydney Brenner’s 2002 Nobel prize lecture envisaged humans as the model organism of choice in an age of genomics. This seminar will outline our work on extreme growth disorders, a group of human single gene disorders which we have exploited to gain insights into fundamental cellular processes. I will speak about an enigmatic protein involved in DNA replication and how AI has shed light on its molecular function. I will also talk about our ongoing work on a gain of function DNMT3A mutation, where we have been using haematopoiesis to investigate how it impacts globally on cell number and organism size.