The Genetics Podcast
EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal
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Episode notes
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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