2023
Medical Genetics
Name: Medical Genetics
Code: CMS14312L
6 ECTS
Duration: 15 weeks/156 hours
Scientific Area:
Health Sciences
Teaching languages: Portuguese
Languages of tutoring support: Portuguese, English
Regime de Frequência: Presencial
Presentation
In Medical Genetics, fundamental concepts in human genetics, heredity, polymorphisms and genetic mutations and their relevance in health and disease are addressed, as well as current methods for genetic analysis and clinical diagnosis.
Sustainable Development Goals
Learning Goals
Students are expected to:
Understand: the constitution, organization and function of the human genome; the mechanisms of human heredity; the role of heredity in health and disease and give examples of the different types of genetic alterations and their disease mechanisms, in the context of Mendelian and non-Mendelian heredity pathologies; the indications, methodologies, limitations and ethical aspects inherent to the application of PMA techniques; the concept of gene therapy being able to understand its current clinical applications.
Develop the establishment of genotype-phenotype correlations and their relevance to health and disease through concrete examples.
Get to know the ethical aspects related to genetic medical and human health information.
Understand: the constitution, organization and function of the human genome; the mechanisms of human heredity; the role of heredity in health and disease and give examples of the different types of genetic alterations and their disease mechanisms, in the context of Mendelian and non-Mendelian heredity pathologies; the indications, methodologies, limitations and ethical aspects inherent to the application of PMA techniques; the concept of gene therapy being able to understand its current clinical applications.
Develop the establishment of genotype-phenotype correlations and their relevance to health and disease through concrete examples.
Get to know the ethical aspects related to genetic medical and human health information.
Contents
Gene, chromosome, mutation. Karyotype. Populations, genetic frequencies. Polymorphisms and geographic variation. Heredity. Genetic analysis. Genotype and phenotype. Family history and analysis of pedigrees. Dysmorphology and congenital anomalies. Genotype-phenotype correlations and disease mechanisms in genetic pathologies: Chromosomopathies; Monogenic diseases: autosomal dominant, recessive and X-linked; Triplet repeat expansion and mosaicism-associated diseases; Non-Mendelian inherited diseases; Multifactorial/polygenic diseases.
Genetic tests: diagnosis (postnatal, prenatal and preimplantation); pre-symptomatic; heterozygosity and balanced chromosome disease; Genetic testing in children. Screenings for genetic diseases; Tumor genetics and hereditary neoplastic syndromes; PMA techniques - indications, methodologies and ethical problems; gene therapy perspectives and practical applications.
Genetics of sexual ambiguities. Ethics in medical genetics.
Genetic tests: diagnosis (postnatal, prenatal and preimplantation); pre-symptomatic; heterozygosity and balanced chromosome disease; Genetic testing in children. Screenings for genetic diseases; Tumor genetics and hereditary neoplastic syndromes; PMA techniques - indications, methodologies and ethical problems; gene therapy perspectives and practical applications.
Genetics of sexual ambiguities. Ethics in medical genetics.
Teaching Methods
The teaching/learning process is based on the individual work of the students, supported by theoretical classes (35h), theoretical practices (13h) and laboratory practices (15h) and the recommended bibliography.
The evaluation system is organized to consider the work carried out by the student in the different components. The practical component (PS) is continuously evaluated considering the attendance, the performance in the laboratory and the analysis, interpretation and discussion of results (oral and/or essay). The theoretical and theoretical-practical component (TS) can be evaluated in two modalities: continuous (written test) or by final exam.
The final score (FS) will be calculated on base of practical component score (PS), and of the theoretical component score (FS): FS=0.25*PS+0.75*TS.
The evaluation system is organized to consider the work carried out by the student in the different components. The practical component (PS) is continuously evaluated considering the attendance, the performance in the laboratory and the analysis, interpretation and discussion of results (oral and/or essay). The theoretical and theoretical-practical component (TS) can be evaluated in two modalities: continuous (written test) or by final exam.
The final score (FS) will be calculated on base of practical component score (PS), and of the theoretical component score (FS): FS=0.25*PS+0.75*TS.
Teaching Staff
