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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