BMB531: Human Diseases

Comment

Entry requirements

The course cannot be chosen by students who are not enrolled in BMB or Biomedicine

Academic preconditions

Students taking the course are expected to:

Have acquired basic knowledge from BMB544, and from other first-year courses.
Be able to use a computer.

Course introduction

The goal of this course is to strengthen the specific academic profile of the students and their identity as students of BMB and biomedicine. Furthermore it is the goal of the course to illustrate the necessity of achieving basic competences in other scientific disciplines taught at the first year of their study. More specifically three different human disease-types are studied in the course. The disease types are: inborn errors of metabolism, cancer and multifactorial diseases. The study of each of the three diseases provides unique opportunities to exemplify, expand and set into perspective and context different aspects of the basic scientific skills acquired in for instance the FF503 course. This course establishes a logical connection between the 1st and second year of the bachelor education by including and expanding specific skills and knowledge from the disciplines of basic natural science, when acquiring competences in biomedicine and molecular biology. Specifically this course builds upon skills and knowledge from the courses BMB544 and BMB500, and provides a scientific basis for studying Biochemistry, molecular biology and genetics in later courses.

In relation to the competence profile of the degree it is the explicit focus of the course to:

The course should strengthen the knowledge and skills in the basic disciplines of natural sciences.
The course focuses on providing insight into the fundamentals of molecular biology and biomedicine.
The course develops and strengthens the student’s basic knowledge in the field of biochemistry, molecular biology, genetics and biomedicine by shedding light on basic mechanisms in development of disease in humans.

Expected learning outcome

The learning objective of the course is that the student demonstrates the ability to:

Describe specific biochemical and metabolic processes and understand how they can be disrupted in metabolic diseases.
Recognize the basic modes of inheritance, and draw pedigrees of affected families.
Describe the cell-cycle, its components and how this scan be disturbed in cancerous diseases.
Describe the most prominent hallmarks of cancer.
Searching and employing databases of scientific literature.
To analyze gene-sequences, effects of mutations, the mutational spectrum of diseases, to identify recognition sequences for restriction enzymes and finally to identify and analyze reference sequences for human disease genes.
Perform basic web-based bioinformatic analyses.
To write assignments where a selected disease is problematized and the involved disease mechanisms are described at the level of molecular biology, genetics and biochemistry employing correct scientific terms and references to scientific literature.

Content

The following main topics are contained in the course:

Metabolism
The cell as a living entity, including the eukaryotic cell cycle
Genetics
Physiology
Biomolecular chemistry and molecular biology
Additionally, relevant competences in mathematics, chemistry and physics are included when relevant.

Literature

See itslearning for syllabus lists and additional literature references.

Examination regulations

Exam element a)

Timing

Spring

Tests

Written assignments

EKA

N200026112

Assessment

Second examiner: None

Grading

Pass/Fail

Identification

Full name and SDU username

Language

Normally, the same as teaching language

Examination aids

To be announced during the course

ECTS value

Exam element b)

Timing

June

Tests

Written examn

EKA

N200026102

Assessment

Second examiner: External

Grading

7-point grading scale

Identification

Student Identification Card - Exam number

Language

Normally, the same as teaching language

Duration

2 hours

Examination aids

The exam is without aids. However, it is allowed to use the standard build in calculator in Windows/MAC. Furthermore, it is allowed to use "ordbogsprogrammet" (the dictionary programme) from http://www.ordbogen.com/ in electronic form provided this has been downloaded and installed before the start of the exam. The browser version is not allowed.

Internet is not allowed during the exam. However, you may the course site in itslearning in connection with filling out the multiple-choice questions.

ECTS value

Additional information

The exam is conducted as a multiple choice test.

Indicative number of lessons

29 hours per semester

Teaching Method

Teaching activities result in an estimated indicative distribution of the work effort of an average student in the following way:

Intro phase (lecture) - Number of hours: 13
Training phase: Number of hours: 16
Study phase: Number of hours: 80

The intro-phase consists of lectures, which gives a basic introduction to the three themes, exemplified by three different disease types: inherited metabolic disease, cancer and infectious disease. In all three diseases there is particular emphasis in the lectures to also illustrate and exemplify subjects and themes from the other first-year courses, FF503, mathematics, physics and FF500. In the training phase competences and skills in the central and basic subjects of the course are trained by completing assignments. There is a specific focus on achieving skills for searching and analyzing disease databases, mutation databases, Genebanks and other types of databases, as well as using databases of scientific literature (PubMed). Additionally focus is on obtaining skills in using web-based analysis tools for identification of restriction-enzyme recognition sequences, analyzing and visualizing protein structures, homology searches, analyses of mutational effects. The examinatoriums requires that the student prior to attending have worked with the assignments either alone or in self-established study-groups. The study-phase thus consists both in preparing for the intro-phase and for the examinatoriums. The students are expected to study (read and analyze) different texts, such as textbook chapters, websides with scientific content and scientific papers (mainly review papers) in order to achieve the required competences and the overview of the field. A large and important part of the study-phase consists in writing two obligatory assignments, where the student is expected to demonstrate skills obtained in the examinatoriums.

Activities in the study phase:

To read and study textbook chapters, scientific articles and websites/databases in order to prepare for the lectures, examinatoriums and the obligatory assignments.
To prepare for the assignments in the examinatoriums by reading texts, study databases and use analysis programs to answer the assignments.
To write two obligatory assignments.

Teacher responsible

Name	E-mail	Department
Brage Storstein Andresen	bragea@bmb.sdu.dk	Institut for Biokemi og Molekylær Biologi

Additional teachers

Name	E-mail	Department	City
Barbara Guerra	bag@bmb.sdu.dk	Institut for Biokemi og Molekylær Biologi
Jan-Wilhelm Kornfeld	janwilhelmkornfeld@bmb.sdu.dk	Institut for Biokemi og Molekylær Biologi

Timetable

Odense

Show full time table

Administrative Unit

Biokemi og Molekylær Biologi

Team at Registration

NAT

Offered in

Odense

Recommended course of study

Profile	Education	Semester	Offer period

Transition rules

Transitional arrangements describe how a course replaces another course when changes are made to the course of study.

If a transitional arrangement has been made for a course, it will be stated in the list.

See transitional arrangements for all courses at the Faculty of Science.