EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal
April 11, 2024
Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener of The Genetics Podcast, you are likely familiar with Dr. Veera’s annual round-up episodes. This year, we are excited to announce quarterly episodes with Dr. Veera, where he and Patrick walk you through the latest developments in genetics, drug discovery, and precision medicine throughout the year. This quarter’s episode will focus on non-coding variants and the future of genome-wide association studies (GWAS). Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.
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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