BMB814: Molecular disease diagnostics - honours class (20 ECTS)

STADS: 01006701

Level
Master's level course

Teaching period
The course is offered in the spring semester.
1st to 4th quarter.

Teacher responsible
No responsible teachers found, contact the department if necessary

Timetable
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Revison of timetable:
: Skema tilføjet timer i uge 11-13
: AFLYSNING!!! Mandag uge 05 kl. 12-13 er aflyst pga. sygdom. Erstatningstime fredag uge 05.

Prerequisites:
None

Academic preconditions:
Bachelor’s degree in Biomedicine or Pharmacy from SDU, or similar qualifications e.g. bachelor’s degree in Molecular medicine from AU or masters students in Human biology from KU. Bachelors in Biomedicine, Medicine or Pharmacy from SDU have first priority, provided that their average grade is above 9.0. Other students fulfilling the educational prerequisites will be selected based on their average grade, an interview and scientific or disseminative activities. A maximum of 25 students are accepted each year.

Course introduction
The purpose of the course is to give the student an insight into the development of molecular diagnostic methods, their use in research, and how these methods can be modified and optimised for highly reliable routine use in the diagnosis and monitoring of diseases.
The student will get a thorough introduction to the principles behind a series of modern molecular diagnostic methods. Furthermore, the student will gain insight into the development and application of the methods in disease research. Finally, the student will be introduced to the requirements for implementing a diagnostic method in a hospital environment for routine investigation of patients. Through lab exercises, projects and demonstrations by specialists, the student will acquire knowledge on how the use of sophisticated molecular diagnostic methods is organised, implemented and quality controlled. Thus, the student obtains - through practical examples – a stronger theoretical knowledge on the methods, and furthermore gets an understanding of the fundamental principles behind reliable diagnosis, including reproducibility. Finally, the student will - through a practical and theoretical project – learn how to outline and test the molecular diagnosis using a new biological marker.

Expected learning outcome
When the course is completed, the student should be able to:

• Critically read, interpret and communicate original research literature in molecular diagnostics.
• Explain selected techniques used in molecular diagnostics.
• Account for - and apply in practice – the principles and methods used in genetic diagnosis of heritable diseases.
• Have knowledge of the ethical aspects in relation to genetic counselling.
• Account for the main stages in the development of a molecular diagnostics method.
• Outline the theoretical and experimental borders for a defined molecular diagnostic problem.
• Chose the optimal method for a defined molecular diagnostic problem.
• Phrase new questions and investigations based on obtained results.
• Define overall quality criteria for the clinical use of molecular diagnostics.
• Have knowledge on the use of selected databases.
• Interpret data from selected molecular diagnostic tests.
• Participate in interdisciplinary collaboration with the health sector/ health industry on the development of molecular disease diagnostics.

Subject overview

• Molecular genetics for the diagnosis of inherited diseases (PCR in relation to mutation-specific and general mutation scanning assays. DNA sequencing)
• Chromosome analysis (microscopy and molecular cytogenetics).
• Methods for detection of disease markers – e.g. metabolites – in plasma and tissue (immune assays, chromatography and mass spectrometry, spectrophotometry and flow cytometry)
• Detection and characterisation of disease causing microorganisms (DNA sequencing and Real-time PCR).
• Method for bio-imaging (PET scanning/radioactive tracer and MR scanning).
• Methods for characterisation of gene expression (micro arrays and quantitative PCR).
• Quality control, validation, sources of variation, specificity and sensitivity in relation to molecular disease diagnostics.
• Automation and high throughput screening.
• Search in sequence, disease and syndrome databases
• Ethics in relation to genetic counselling.

Literature
There isn't any litterature for the course at the moment.

Syllabus
See syllabus.

Website
This course uses e-learn (blackboard).

Prerequisites for participating in the exam
None

Assessment and marking:

1. Subject specific bloc The diagnosis of heritable and genetically determined diseases: a) Approval of at least one oral presentation of a given problem in the class. (2nd quarter). (01006762). b) Approved report over the lab exercises. Pass/fail, internal evaluation by teacher (2nd quarter). (01006722)
2. Subject specific bloc Disease markers in tissue and plasma: Approved report over the lab exercises. Pass/fail, internal evaluation by teacher (3rd quarter). (01006732)
3. Subject specific bloc Disease causing microorganisms: Approved presentation of experimental results. Pass/fail, internal evaluation by teacher (3rd quarter). (01006742)
4. Subject specific bloc Biomarker discovery: Approved report over the lab exercises. Pass/fail, internal evaluation by teacher (4th quarter). (01006752)
5. Final project: Written report followed by oral exam. Grades according to the Danish 7-point scale, internal examiner. Accounts for 5 ECTS. (4th quarter). (01006712)
6. Written exam in non-individual part of the course. Grades according to the Danish 7-point scale, internal examiner. Approved lab reports/result presentations is a prerequisite for participating in the written exam. Accounts for 15 ECTS. (4th quarter). (01006702)

Re-examination after 2nd quarter. The examination at the re-exam will be oral. Grades according to the Danish 7-point scale, internal examiner.

Expected working hours
The teaching method is based on three phase model.

Forelæsninger, eksaminatorier, studenterpræsentationer og case stories. 50%.
Laboratorie- og virtuelle øvelser, fortolkning af molekylær-diagnostiske data. 25% Afslutningsprojekt. 25%
Educational activities

Language
This course is taught in English, if international students participate. Otherwise the course is taught in Danish.

Remarks
Course outline

1. Cross disciplinary bloc (approx. 5%): Quality control, validation, specificity and sensitivity in relation to diagnostics
2. Subject specific bloc (approx. 25%) The diagnosis of heritable and genetically determined diseases.
3. Subject specific bloc (approx. 15%) Disease markers in tissue and plasma
4. Subject specific bloc (approx. 10%) Bio-imaging
5. Subject specific bloc (approx. 10%) Disease causing microorganisms
6. Subject specific bloc (approx. 10%) Biomarker discovery
7. Final project (approx. 25%)

Literature:

• Emery’s elements of medical genetics. 13th edition – 2007. Peter Turnpenny and Sian Ellard. Churchill Livingstone/Elsevier. ISBN: 978-0-7020-2917-2.
• Molecular Imaging. Radiopharmaceuticals for PET and SPECT.
• Vallabhajosula S. Springer, 2009
• Further literature to be announced.

Course enrollment
See deadline of enrolment.

Tuition fees for single courses
See fees for single courses.