A myriad of AI, science, and technology experts explore the real challenges and enormous opportunities facing entrepreneurs who are building the future of health. Raising Health, a podcast by a16z Bio + Health and hosted by Kris Tatiossian and Olivia Webb, dives deep into the heart of biotechnology and healthcare innovation. Join veteran company builders, operators, and investors Vijay Pande, Julie Yoo, Vineeta Agarwala, and Jorge Conde, along with distinguished guests like Mark Cuban, Greg ...
…
continue reading
Inhoud geleverd door Sano Genetics. Alle podcastinhoud, inclusief afleveringen, afbeeldingen en podcastbeschrijvingen, wordt rechtstreeks geüpload en geleverd door Sano Genetics of hun podcastplatformpartner. Als u denkt dat iemand uw auteursrechtelijk beschermde werk zonder uw toestemming gebruikt, kunt u het hier beschreven proces https://nl.player.fm/legal volgen.
Player FM - Podcast-app
Ga offline met de app Player FM !
Ga offline met de app Player FM !
EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's
MP3•Thuis aflevering
Manage episode 430696393 series 2631947
Inhoud geleverd door Sano Genetics. Alle podcastinhoud, inclusief afleveringen, afbeeldingen en podcastbeschrijvingen, wordt rechtstreeks geüpload en geleverd door Sano Genetics of hun podcastplatformpartner. Als u denkt dat iemand uw auteursrechtelijk beschermde werk zonder uw toestemming gebruikt, kunt u het hier beschreven proces https://nl.player.fm/legal volgen.
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!
186 afleveringen
MP3•Thuis aflevering
Manage episode 430696393 series 2631947
Inhoud geleverd door Sano Genetics. Alle podcastinhoud, inclusief afleveringen, afbeeldingen en podcastbeschrijvingen, wordt rechtstreeks geüpload en geleverd door Sano Genetics of hun podcastplatformpartner. Als u denkt dat iemand uw auteursrechtelijk beschermde werk zonder uw toestemming gebruikt, kunt u het hier beschreven proces https://nl.player.fm/legal volgen.
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!
186 afleveringen
Όλα τα επεισόδια
×Welkom op Player FM!
Player FM scant het web op podcasts van hoge kwaliteit waarvan u nu kunt genieten. Het is de beste podcast-app en werkt op Android, iPhone en internet. Aanmelden om abonnementen op verschillende apparaten te synchroniseren.