BMB815: Human Molecular Genetics - Molecular Pathology and Diagnostic Methods (5 ECTS)

STADS: 01013001

Level
Master's level course

Teaching period
The course is offered in the autumn semester.

Teacher responsible
Email: bragea@bmb.sdu.dk

Timetable
Show entire timetable
Show personal time table for this course.

Prerequisites:
Bachelor degree in Biochemisty & Molecular Biology, Biomedicine or Pharmaceutical Sciences or an equvivalent Bachelor degree.

Academic preconditions:
None

Course introduction
The purpose of the course is to give the student an insight into the development of molecular-genetic 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 other important purpose is to convey to the students knowledge about the principles of medical genetics, the classical modes of inheritance and other clinically important patterns of inheritance, such as for instance epigentic inheritance and inheritance which exhibit anticipation. The molecular pathology of representative inherited diseases will also be covered by this course.
The student will get a thorough introduction to the fundamental principles of a number of modern molecular-genetic diagnostic methods and their use in disease research. Finally, the student will be introduced to the requirements for implementing a molecular-genetic diagnostic method in a hospital environment for routine investigation of patients. Through laboratory exercises, examinatoriums and demonstrations by specialists, the students will acquire knowledge on how the use of sophisticated molecular-genetic diagnostic methods is organised, implemented and quality controlled. Thereforeus, the students achieve - through practical examples – a stronger theoretical knowledge on the molecular genetic methods, and furthermore obtains an understanding of the fundamental principles of reliable diagnosis. Finally, the students will through hands on experience obtain knowledge on the basic principles for treatment of selected inherited diseases byt treatment with antisense oligonucleotides.

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.
• Explain the classical modes of inheritance and other clinically important patterns of inheritance and explain the molecular pathology of representative inherted diseases.
• Account for - and apply in practice – the principles and methods used in genetic diagnosis of heritable diseases.
• Possess knowledge of the ethical aspects in relation to genetic counselling in families and in relation to screening of a population.
• Account for the main stages in the development of a molecular-genetic diagnostic method.
• Outline the theoretical and experimental criteria and limitations for a defined molecular-genetic diagnostic problem.
• Chose the optimal method for a defined molecular-genetic diagnostic problem.
• Formulate new questions and investigations based on obtained results.
• Define overall quality criteria for the clinical use of molecular-genetic diagnostics.
• Possess knowledge on the use of computerbased analysis tools and selected databases.
• Interpret data from selected molecular-genetic diagnostic tests.
• Participate in interdisciplinary collaboration with the health sector/ health industry on the development of molecular-genetic disease diagnostics.
• Explain the basic principles underlying use of therapeutic antisense oligonucleotides in treatment of selected inherited diseases.

Subject overview

• Molecular genetics for diagnosis of inherited disease (The use of PCR in mutation-specific and general mutation scanning assays). DNA sequencing.
• Diagnostic applications of Next Generation Sequencing for mutation detection and characterization of gene-expression.
• Analysis of chromosomal aberrations (Microscopy and molecular cytogenetics).
• Methods for characterization of geneexpression (micro-arrays and quantitative PCR).
• Quality assurance, validation, sources of variation and errors in molecular genetic diagnostic testing.
• Use of bioinformatic analysis tools for evaluation of the potential pathogenic effects of sequence variations and mutations and their distribution and frequencies in a population. Searches in sequence-, variation/mutation- and disease-databases.
• Ethical issues regarding genetic consulting of families and genetic screening in populations.
• New therapeutic approaches for inherited diseases

Literature

• Peter Turnpenny and Sian Ellard. Churchill Livingstone/Elsevier: Emery’s elements of medical genetics, 14th edition – 2012,ISBN: 9780702040436.
• Herudover udvalgte artikler og øvelsemanual.

Website
This course uses e-learn (blackboard).

Prerequisites for participating in the exam

1. Participation in lab. work is a prerequisite for exam part a. Pass/fail, internal evaluation by teacher.
2. Active participation in examinatoriums (80 %) is a prerequisite for exam part b. Pass/fail, internal evaluation by teacher.

Assessment and marking:

1. Report on lab work, pass/fail, internal evaluation by teacher. 2 ECTS.
2. Project assignment, 7-point grading scale, internal evaluation. 3 ECTS.

Reexamination in the same exam period or immediately thereafter.

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

Forelæsninger: 18 timer
Eksaminatorietimer: 18 timer
Laboratorieøvelser: 20 timer
Educational activities

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

Remarks
This course is lectured in parallel with the block termed "The diagnosis of heritable and genetically determined diseases" in the BMB814 course.

The course has a length of approximately 9 weeks and runs partly in the middle of the semester

Course enrollment
See deadline of enrolment.

Tuition fees for single courses
See fees for single courses.