This week on The Genetics Podcast, Patrick is joined by Dr. Luke Pilling, Senior Lecturer in Genetic Epidemiology at the University of Exeter. They discuss hemochromatosis and the case for earlier diagnosis, and the genetic drivers of multimorbidity, pharmacogenetics, and drug response.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Luke
01:37 An overview of HFE hemochromatosis and why diagnosis is delayed
04:24 Iron levels and overload risk in heterozygous and compound heterozygous carriers
05:51 Aging-related effects seen in homozygotes
06:43 How hemochromatosis is currently diagnosed and detected in the UK
09:26 Future screening and case finding, including the Our Future Health cohort
11:28 Genetic and environmental factors that shape outcomes in C282Y homozygotes
13:28 The GEMINI project and the genetic drivers of multimorbidity
15:56 Drug targets from multimorbidity genetics, including repurposing and opposite effects
18:49 Using disease sequences in health records to look for earlier intervention points in multimorbidity
21:21 Data gaps limiting multimorbidity research, from primary care records to proteomics
23:17 Handling misdiagnosis and clinical code accuracy in health record research
24:55 International collaborations and the need for more diverse biobank data
26:08 Pharmacogenetics research and how genetic variants shape drug response
29:04 Limited clinical examples of pharmacogenetics and lessons from non-responders
33:08 Genetics of lifespan and healthy aging, and why geroscience pathways rarely appear in GWAS
36:06 Luke’s future research focuses
40:39 Closing remarks
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