This week on The Genetics Podcast, Patrick is joined by Dr. Andrew Jackson, Programme Leader at the MRC Human Genetics Unit at the University of Edinburgh. They discuss how his lab discovered that gain-of-function DNMT3A mutations cause both microcephalic dwarfism and an accelerated aging syndrome, and what that reveals about the shared biology of growth and aging.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Andrew
01:34 The origins of Andrew's work linking brain size and aging
02:54 The genetics of mammalian size range and epigenetic factors regulating growth
05:02 How DNMT3A mutations causing dwarfism led to discovering an accelerated aging syndrome
09:46 Cell number rather than cell size as the shared driver of growth and aging
13:07 Whether brain size within humans actually predicts cognitive ability
15:20 Why intellectual disability has far more known genes than dwarfism
19:26 Discovering ribonuclease H2's role in DNA repair, and its unexpected link to cancer
23:35 Why studying rare monogenic diseases reveals broader biology
26:59 Andrew's next research questions on aging, cancer, and mutation biology
28:42 Why humans, model organisms, and cell assays each have a role
31:00 Somatic mosaicism's growing role in aging and disease beyond cancer
36:11 Closing remarks
Find out more:
Mentioned studies from Andrew’s lab:
