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Advanced Genetics Part 2
Manage episode 410467596 series 3349924
Innhold levert av n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen), N-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen). Alt podcastinnhold, inkludert episoder, grafikk og podcastbeskrivelser, lastes opp og leveres direkte av n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen), N-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen) eller deres podcastplattformpartner. Hvis du tror at noen bruker det opphavsrettsbeskyttede verket ditt uten din tillatelse, kan du følge prosessen skissert her https://no.player.fm/legal.
Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of genetics. Delve into the diverse array of disease-causing mutations, their characteristics, and explore which mutations could potentially be addressed through ASO treatment in this concluding episode of Advanced Genetics.
On This Episode We Discuss:
- The nature of a SNP
- Pre-mature-m-RNA effects
- Indels can disrupt the reading frame
- Defining Alleles, Homozygous, Heterozygous, and Compound Heterozygous
- The difference between whole exome and genome sequencing
- How we, at n-Lorem, decide which patients are amendable to ASO treatments
- How we design ASOs to take advantage of different post-RNA binding mechanisms
- Mechanisms: Non-allele selective RNAse H1, Allele-selective RNAse H1, and Splicing ASOs
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