How can we, humans, look at our relationship to nature differently? In season three of Going Wild, on top of stories about animals, we invite you to journey through the entire ecological web — from the tiniest of life forms to apex predators — alongside the scientists, activists and adventurers who study it. Wildlife biologist and host Dr. Rae Wynn-Grant has been studying wild animals in their natural habitats all over the world for years. Our award-winning podcast takes you inside the hidde ...
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EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal
MP3•Home de episódios
Manage episode 411967553 series 2631947
Conteúdo fornecido por Sano Genetics. Todo o conteúdo do podcast, incluindo episódios, gráficos e descrições de podcast, é carregado e fornecido diretamente por Sano Genetics ou por seu parceiro de plataforma de podcast. Se você acredita que alguém está usando seu trabalho protegido por direitos autorais sem sua permissão, siga o processo descrito aqui https://pt.player.fm/legal.
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
Please consider rating and reviewing us on your chosen podcast listening platform!
166 episódios
MP3•Home de episódios
Manage episode 411967553 series 2631947
Conteúdo fornecido por Sano Genetics. Todo o conteúdo do podcast, incluindo episódios, gráficos e descrições de podcast, é carregado e fornecido diretamente por Sano Genetics ou por seu parceiro de plataforma de podcast. Se você acredita que alguém está usando seu trabalho protegido por direitos autorais sem sua permissão, siga o processo descrito aqui https://pt.player.fm/legal.
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
Please consider rating and reviewing us on your chosen podcast listening platform!
166 episódios
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