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Human Genetics and Disorders I

Code: MMOM13_4     Acronym: MMOM13_4

Classification Keyword
OFICIAL Medical and Molecular Oncology

Instance: 2021/2022 - SP (of 13-09-2021 to 15-07-2022) Ícone do Moodle

Active? Yes
Responsible unit: Departamento de Patologia
Course/CS Responsible: Molecular Medicine and Oncology

Cycles of Study/Courses

Acronym No. of Students Study Plan Curricular Years Credits UCN Credits ECTS Contact hours Total Time
MMOM 15 Plano Oficial do ano letivo 2018 1 - 3 21 81

Teaching Staff - Responsibilities

Teacher Responsibility
Filipa Abreu Gomes de Carvalho

Teaching language

Suitable for English-speaking students


To provide the students the fundamental outlines concerning the inheritance of the characteristics that define the human being in their normal and pathological manifestations, using disease models for discussion.

Learning outcomes and competences

The syllabus of the different sessions were adjusted to the objectives of the course with  an introduction to the different concepts, using different disease models and estimated time for discussion between the teacher (s) and students.

The teaching methodologies adopted, including seminars and discussion of scientific papers has proven to be effective in achieving the learning outcomes.

Working method



Classification of genetic disorders, Types of inheritance, Mendelian inheritance, non-Mendelian inheritance, multifactorial inheritance.

Cytogenetics: Indications for chromosomal study. Types of chromosomal abnormalities and meiotic consequences.

Screening and Prenatal Diagnosis.

Preimplantation Genetic Testing for monogenic diseases and chromosomal abnormalities.

Genetics of reproduction: male infertility. Microdeletions of the Y chromosome, mutations of the cystic fibrosis gene, genomic imprinting changes during spermatogenesis.

Models of enzyme replacement therapy in lysosomal diseases.

Polyglutamine diseases.

Mandatory literature

Peter Turnpenny, Sian Ellard; Emery's Elements of Medical Genetics, Elsevier, 2012. ISBN: 978-0-7020-4043-6

Comments from the literature

Original and review papers published in peer reviewed journals.

Teaching methods and learning activities

Seminars, Lectures, Papers.

Written final exam - 100%

Evaluation Type

Evaluation with final exam

Assessment Components

Designation Weight (%)
Exame 100,00
Total: 100,00

Amount of time allocated to each course unit

Designation Time (hours)
Frequência das aulas 18,00
Total: 18,00

Eligibility for exams

Attendance to the seminars.

Calculation formula of final grade

Written final exam - 100%

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