Human Genetics and Disorders I

Code:

MMOM13_4

Acronym:

MMOM13_4

Keywords
Classification	Keyword
OFICIAL	Medical and Molecular Oncology

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

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 language

Suitable for English-speaking students

Objectives

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

Presencial

Program

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%