EP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more!
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*0:00 **Invitation to The Genetics Podcast meetup)*1:30 Intro to The Genetics Podcast***2:30 Welcome to Veera***3:20 The evolution on skin color in humans and their ancestors:**Discussion on how a retrotransposon—often called a "jumping gene"—within the ASIP gene (agouti signaling protein) influenced the evolution of skin pigmentation in humans and their ancestors. ASIP, a paracrine hormone produced by skin cells, plays a key role in determining skin color.

• Veera’s Substack Post: How a Jumping Gene Shaped Human Skin Color Evolution) - https://www.gwasstories.com/p/how-a-jumping-gene-shaped-the-human
• Original Research: Study by Dr. Po-Ru Loh and Dr. Steve McCarroll from the Broad Institute, published in Nature Genetics) - https://www.nature.com/articles/s41588-024-01841-4

18:00 - An overlooked tau isoform could unlock an effective drug for Alzheimer’s diseaseExploration of big tau, an often overlooked isoform with unique properties that may make it a promising therapeutic target for tauopathies like Alzheimer's disease. The therapeutic mechanism is reminiscent of Casgevy, a gene therapy treatment used for sickle cell disease.Resources:

• Veera’s Substack Post: The Big Tau: A New Hope for Alzheimer’s) - https://www.gwasstories.com/p/the-big-tau-a-new-hope-for-alzheimers
• Original Research: Study from Dr. Huda Zoghbi’s lab on how the big tau splice isoform resists Alzheimer’s-related pathological changes) - https://www.biorxiv.org/content/10.1101/2024.07.30.605685v1

34:10 Protecting cortical neurons from herpes simplex virusAn international team of researchers, led by Jean-Laurent Casanova and Yi-Hao Chan at Rockefeller University, has discovered that tomoregulin-1 (TMEFF1), a neuronal membrane protein, protects human cortical neurons from herpes simplex viral infection. The gene responsible for producing TMEFF1 encodes a viral restriction membrane protein that prevents viruses from entering brain cells, offering potential therapeutic insights.

• Veera’s Substack Post: Discovery of TMEFF1, a viral restriction factor in the human brain) - https://www.gwasstories.com/p/discovery-of-tmeff1-a-viral-restriction
• Original Research: Study by the Jean-Laurent Casanova Lab at Rockefeller University, Human TMEFF1 is a restriction factor for herpes simplex virus in the brain) - https://www.nature.com/articles/s41586-024-07745-x

47:30 KCNB1 and a novel cardiac arrhythmia syndromeA genetic investigation into cardiac arrhythmias has identified a new noncoding Mendelian disease mechanism stemming from a rare Mendelian disorder.

• Veera’s Substack Post: De novo enhancer creation by a noncoding mutation) - https://www.gwasstories.com/p/de-novo-enhancer-creation-by-a-noncoding
• Original Research: A novel familial cardiac arrhythmia syndrome with widespread ST-segment depression). The authors note, “We believe this is the first description of an entirely de novo cryptic enhancer causing a Mendelian disorder.” - https://www.nejm.org/doi/full/10.1056/NEJMc1807668

57:40 - Genomes vs. exomesExploring the cost-effectiveness of whole genome sequencing compared to whole exome sequencing for gene discovery. This segment explores the long-standing debate over exomes versus genomes, highlighting challenges in studying noncoding variants and the value of each approach in the context of common versus rare diseases.

• Veera’s Substack Post: Genomes vs. Exomes) - https://www.gwasstories.com/p/genomes-vs-exomes
• Original Research: Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank) - https://www.nature.com/articles/s41588-024-01930-4

1:10:00 Closing remarks****1:14:30 Outro