Study-Unit Description

Study-Unit Description


CODE PHB2503

 
TITLE Molecular Human Genetics

 
UM LEVEL 02 - Years 2, 3 in Modular Undergraduate Course

 
MQF LEVEL 5

 
ECTS CREDITS 4

 
DEPARTMENT Physiology and Biochemistry

 
DESCRIPTION This study-unit introduces the students to human molecular genetics which describes basic concepts of molecular genetics and explores the relation between genetics and the molecular cause of disease. The topics covered will include the structure and function of the human genome, karyotyping, the patterns of inheritance in monogenic and polygenic disorders and emerging gene therapies.

Study-unit Aims:

This study-unit aims to introduce students to the role of genetics in health, disease and treatment through key concepts of inheritance, pedigree analysis and chromosomal organization. The mechanisms that lead to genomic variations and how these affect population genetics and the health of individuals are explored. Particular emphasis is given to the application of genetics to medicine, and the social and ethical issues raised by modern advances in this field of science.

Learning Outcomes:

1. Knowledge & Understanding:

By the end of the study-unit the student will be able to:
- Describe the basic principles of human molecular genetics;
- Give examples of single gene disorders and patterns of inheritance;
- Describe how to construct family trees and interpret pedigrees; and
- Explain practical scientific skills, molecular biology methods and their application in diagnostics and research.

2. Skills:

By the end of the study-unit the student will be able to:
- Apply basic practical scientific skills to experimentation related to human genetics;
- Interpret a karyotype and pedigree;
- Analyse scientific papers in the development of current understanding of genetic disorders and human health;
- Interpret genetic data;
- Debate scientific and ethical issues relating to genetics;
- Construct family trees and interpret pedigrees; and
- Use genetics methods to analyze inherited disease.

Main Text/s and any supplementary readings:

Klug, W. S., Cummings, M. R., Spencer, C. A and Palladino., M. A. Concepts of Genetics. 11th edition. New York: Pearson Publishers. 2014.

 
STUDY-UNIT TYPE Lecture, Seminar & Independent Study

 
METHOD OF ASSESSMENT
Assessment Component/s Assessment Due Sept. Asst Session Weighting
MCQ and Written Examination (2 Hours) SEM1 Yes 100%

 
LECTURER/S Nikolai Pace

 

 
The University makes every effort to ensure that the published Courses Plans, Programmes of Study and Study-Unit information are complete and up-to-date at the time of publication. The University reserves the right to make changes in case errors are detected after publication.
The availability of optional units may be subject to timetabling constraints.
Units not attracting a sufficient number of registrations may be withdrawn without notice.
It should be noted that all the information in the description above applies to study-units available during the academic year 2023/4. It may be subject to change in subsequent years.

https://www.um.edu.mt/course/studyunit