Seminario 10 PARTE B Introducción a la Genética Medica - María Paz Bidondo

Hello, I hope you are well. I am María Pazvidondo and we are going to begin looking at part B of seminar 10. Previously in seminar A we saw what we called genotype, that is, those specific sequences that are generally genes and their alleles and how, in comparison with the alleles of an individual and with a

reference sequence, we talked about whether there was homozygosity, heterozygosity, compound heterozygosity, or homozygosity. We also discussed different levels at which one could define a phenotype and be able to make associations between genotype and phenotype, that is, certain variants. And one characteristic to evaluate, for example, a clinical phenotype that is healthy individuals versus affected individuals within

a family or within a population or vice versa, starting from a clinical phenotype such as some sign of some impairment, see what kind of variants could be associated and if those variants also had the potential value of being pathogenic, that is, producing that disease. Often we obtain genotype information through sequencing, and phenotype information through

different techniques depending on the level of organization we are evaluating in the phenotype. But we are often left with questions about what is the mechanism that makes the product of that variant or the products interact with each other, at the level with other genetic and environmental contexts to generate that phenotype. In other words, what

happens at the molecular level? What about the regulation of expression? What happens to cellular behaviors during embryonic development that ultimately results in this phenotype? In this second part or part B we will dedicate ourselves to all this information, which is constantly expanding with the incorporation of genomics into medicine. All of this that