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Advanced Genetics Part 2
Manage episode 410467596 series 3349924
Kandungan disediakan oleh 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). Semua kandungan podcast termasuk episod, grafik dan perihalan podcast dimuat naik dan disediakan terus oleh 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) atau rakan kongsi platform podcast mereka. Jika anda percaya seseorang menggunakan karya berhak cipta anda tanpa kebenaran anda, anda boleh mengikuti proses yang digariskan di sini https://ms.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
65 episod
Kongsi
