EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal

The Genetics Podcast

Show Notes:

0:00 Introduction

1:20 How polydactyl mutations can inform research on non-coding variant mechanisms

• The importance of low-affinity binding between transcription factors and targets
• How these lessons can help us improve our understanding of drug and target discovery
• See Veera’s January round-up for more information: https://www.gwasstories.com/p/january-2024-human-genetics-roundup

16:30 Long non-coding RNA (lncRNA) variants associated with the neurodevelopmental disorder (NDD) gene CHD2

• An overview of the roles lncRNA play in the human genome
• The discovery of a lncRNA deletion that is linked to a CDH2-mediated neurodevelopmental disorder
• Insights into Angelman syndrome and a therapeutic design currently being used to treat it
• See Veera’s February Roundup for more information: https://www.gwasstories.com/p/february-2024-human-genetics-roundup
• Twitter thread from the original author of the study: https://twitter.com/VGaneshMDPhD/status/1755708315181744330

28:00 A non-coding variant explaining the high prevalence of Brugada syndrome in South-East Asians (one of Veera’s personal favourite stories)

• See Veera’s January Roundup for more information: https://www.gwasstories.com/p/january-2024-human-genetics-roundup)

41:00 The future of large scale genome-wide association studies

• A recent massive GWAS on type 2 diabetes clustering the variants of disease mechanisms
• A recent paper published in Nature Medicine that shows differences in the lipodystrophy clusters between East Asians and Europeans: https://www.nature.com/articles/s41591-024-02865-3
• How type 2 diabetes manifests differently across ethnic groups, potentially influencing personalised treatment strategies

55:20 Closing remarks

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