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 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's
MP3•Źródło odcinka
Manage episode 430696393 series 2631947
Treść dostarczona przez Sano Genetics. Cała zawartość podcastów, w tym odcinki, grafika i opisy podcastów, jest przesyłana i udostępniana bezpośrednio przez Sano Genetics lub jego partnera na platformie podcastów. Jeśli uważasz, że ktoś wykorzystuje Twoje dzieło chronione prawem autorskim bez Twojej zgody, możesz postępować zgodnie z procedurą opisaną tutaj https://pl.player.fm/legal.
0:00 Introduction
1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders
- This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome
- It now shows potential as a target for various therapeutic developments for children with developmental disorders
- See the original paper here: De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
20:30 A new gene, RAB32, linked to Parkinson’s disease through exome sequencing of families impacted by PD
- Direct interactions with the LRRK2 gene through its armadillo domain, resulting in a gain of function missense mutation
- How RAB32 was discovered as a significant mutation in PD research
- The strong therapeutic implications of RAB32 and LRRK2
- See original papers: RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses and Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
35:30 Gaining insights from rare, monogenic conditions: A monogenic cause of early onset systemic lupus erythematosus (SLE)
- Making discoveries by following a biological thread, a rare privilege enjoyed by few fields like immunology
- See original paper here: Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus
- A related paper from two years ago on SLE and the TLR7 gene: TLR7 gain-of-function genetic variation causes human lupus
49:30 Alzheimer’s disease: Old genes, new insights
- Redefining research goals to make better sense of old discoveries, in addition to making new discoveries
- deCODE’s previous work on the homozygosity deficit inference
- APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease
- Homozygosity for R47H in TREM2 and the Risk of Alzheimer’s Disease
59:00 Closing remarks
Please consider rating and reviewing us on your chosen podcast listening platform!
179 odcinków
MP3•Źródło odcinka
Manage episode 430696393 series 2631947
Treść dostarczona przez Sano Genetics. Cała zawartość podcastów, w tym odcinki, grafika i opisy podcastów, jest przesyłana i udostępniana bezpośrednio przez Sano Genetics lub jego partnera na platformie podcastów. Jeśli uważasz, że ktoś wykorzystuje Twoje dzieło chronione prawem autorskim bez Twojej zgody, możesz postępować zgodnie z procedurą opisaną tutaj https://pl.player.fm/legal.
0:00 Introduction
1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders
- This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome
- It now shows potential as a target for various therapeutic developments for children with developmental disorders
- See the original paper here: De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
20:30 A new gene, RAB32, linked to Parkinson’s disease through exome sequencing of families impacted by PD
- Direct interactions with the LRRK2 gene through its armadillo domain, resulting in a gain of function missense mutation
- How RAB32 was discovered as a significant mutation in PD research
- The strong therapeutic implications of RAB32 and LRRK2
- See original papers: RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses and Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
35:30 Gaining insights from rare, monogenic conditions: A monogenic cause of early onset systemic lupus erythematosus (SLE)
- Making discoveries by following a biological thread, a rare privilege enjoyed by few fields like immunology
- See original paper here: Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus
- A related paper from two years ago on SLE and the TLR7 gene: TLR7 gain-of-function genetic variation causes human lupus
49:30 Alzheimer’s disease: Old genes, new insights
- Redefining research goals to make better sense of old discoveries, in addition to making new discoveries
- deCODE’s previous work on the homozygosity deficit inference
- APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease
- Homozygosity for R47H in TREM2 and the Risk of Alzheimer’s Disease
59:00 Closing remarks
Please consider rating and reviewing us on your chosen podcast listening platform!
179 odcinków
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