Course overview: The aim of the course is to provide students with a foundation in Human Genetics-Medical Genetics and application of genetics to the diagnosis and management of genetic disease.

Course description: Family history, family tree chart. Mendelian Genetics (patterns of Inheritance and Single-Gene Disorders.Founder effect. . New mutations, Mosaicism, Penetrance, Expressivity. Genotype- phenotype. Clinical Cytogenetics (karyotype, chromosomal abnormalities, mechanisms and nomenclatur. Cancer cytogenetics. Non mendelian inheritance (dynamic mutation, epigenetics). Sex determination,disorders. Molecular and cytogenetic diagnostic techniques, advantages, limitations, and disadvantages. Multifactorial inheritance. Social and ethical issues (confidentiality, informed consent). Information and data sources (e.g.PubMed, OMIM, Orphanet).

Course Organization and Goals: Small group interactive learning. Case study with problem based learning activities (pedigree construction and evaluation of the genetic disease (databases information, mode of inheritance, diagnostic procedures etc). e-course assessment questions, quizzes and exercises. The course aims to provide an overview of Human/Medical Genetics fundamentals.

Students should be able to apply the knowledge of the principles ofMedical Genetics to a variety of clinical problems, to identify Mendelian and non-Mendelian mechanisms, to use Databases, to understand the importance, usefulness and limitations of the genetic tests, and to interpret results of cytogenetic and molecular genetic tests.

Hours of training per student: 26

Semester: 3rd

ECTS: 2