Studies Of Genetic Epidemiology About Phenotype With Complex Determination In The Context Of A Biomedical Basic Sciences Doctoral Program

Autores/as

  • Manuela Herrera Martinez Universidad de Ciencias Medicas de Villa Clara
  • Douglas Fernández-Caraballo Universidad de Ciencias Medicas de Villa Clara,
  • Danay Heredia-Ruiz Universidad de Ciencias Médicas de Villa Clara
  • Maria Elena de la Torre-Santos Centro Provincial Genetica Medica Villa Clara
  • Noel Taboada-Lugo Centro Provincial Genetica Medica Villa Clara
  • Lay Salazar-Torres Policlinico Chiqui Gomez
  • Lorna González-Herrera Centro Provincial Genetica Medica Villa Clara

Palabras clave:

genetic epidemiology, phenotype complex, complex trait genetics, biomedical basic sciences, doctoral program, gene-environment interactions

Resumen

Objective: To identify a core set of research procedures for genetic epidemiology that need to be learnt to obtain a scientific degree in subjects related to basic biomedical sciences.

Methods: We discuss the results of six research projects in the area of genetic epidemiology about complex phenotypes. We show in the studied phenotypes the higher prevalence in relatives compared to the general population, the higher risk among first-degree relatives of affected individuals, and the segregation mode of each phenotype. Meanwhile, to show the influence of environmental factors and various analysis of gene-environment interaction using different models. Finally, we discuss the common research procedures followed during these studies.

Results: research studies in the subject of genetic epidemiology can be divided into three broad categories: (1) those that aim at describing the distribution of a disease or a determinant at the level of a population of interest (familiar hereditary angioedema, reproductive failure); (2) those that attempt to investigate a potential aetiological link between one or more specific determinants and a disease of interest (congenital birth defects, cervix cancer, and longevity) and (3) those aimed at evaluating the effectiveness of an intervention applied to groups of individuals in the population (hypoplasia foetal thymus).

Conclusions: We have identified, a set of theoretical topics as well as study techniques and methodologies for the approach of research projects in genetic epidemiology, could be considered as the general and specific bases for postgraduate teaching in relation to obtaining a doctorate in basic biomedical sciences in our University and could be useful to other Universities of similar contexts.

Descargas

Los datos de descargas todavía no están disponibles.

Biografía del autor/a

Manuela Herrera Martinez, Universidad de Ciencias Medicas de Villa Clara

Laboratorio de Epidemiologia Genetica, Unidad de Investigaciones Biomedicas, Profesor Titular, Dr en Ciencias Medicas, Especialista segundo Grado Genetica Clinica, Universidad de Ciencias Medicas de Villa Clara,

Douglas Fernández-Caraballo, Universidad de Ciencias Medicas de Villa Clara,

Master en Bioquimica

Licenciado en Bioquimica

Danay Heredia-Ruiz, Universidad de Ciencias Médicas de Villa Clara

Master en Infectologia

Licecniada en Laboratorio Clinico

Maria Elena de la Torre-Santos, Centro Provincial Genetica Medica Villa Clara

Especialista de Genetica Clinica

Noel Taboada-Lugo, Centro Provincial Genetica Medica Villa Clara

Master en Atencion a la Madre y el Niño

Especialista en Genetica

Lay Salazar-Torres, Policlinico Chiqui Gomez

Master

Especialista en Inmunologia

Lorna González-Herrera, Centro Provincial Genetica Medica Villa Clara

Especialista de Imagenologia

Descargas

Publicado

2019-05-27

Cómo citar

1.
Herrera Martinez M, Fernández-Caraballo D, Heredia-Ruiz D, de la Torre-Santos ME, Taboada-Lugo N, Salazar-Torres L, et al. Studies Of Genetic Epidemiology About Phenotype With Complex Determination In The Context Of A Biomedical Basic Sciences Doctoral Program. Rev Cubana Inv Bioméd [Internet]. 27 de mayo de 2019 [citado 11 de julio de 2025];38(1). Disponible en: https://revibiomedica.sld.cu/index.php/ibi/article/view/167

Número

Sección

COMUNICACIÓN BREVE