BMB815: Human Molecular Genetics - Molecular Pathology and Diagnostic Methods
Study Board of Science
Teaching language: Danish, but English if international students are enrolled
EKA: N210022112, N210022122, N210022132, N210022102
Assessment: Second examiner: None, Second examiner: Internal
Grading: Pass/Fail, 7-point grading scale
Offered in: Odense
Offered in: Autumn
Level: Master
STADS ID (UVA): N210022101
ECTS value: 5
Date of Approval: 20-04-2018
Duration: 1 semester
Version: Archive
Comment
Entry requirements
Academic preconditions
Students taking the course are expected to:
- Have knowledge of theories and experimental methods from the field of Molecular Biology and Biomedicine.
- Be able to analyze theoretical and practical problems and use relevant models for problem solving and to make and argue for scientific decisions.
- Be able to describe, formulate and convey problems and themes from the area of Molecular biology and Biomedicine.
Course introduction
The purpose of the course is to give the student an insight into and skills to perform and apply the development of molecular-genetic diagnostic methods, their use in research, and how these methods can be modified and optimized 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 and therapies for representative inherited diseases will also be covered by this course.
This course builds on knowledge gained in courses from the bachelor education in BMB or Biomedicine, in particular the BMB508 course. It provides the theoretical basis for further studies into projects in human molecular genetics in the master project and it also enables the student to include human molecular genetic analyses and theories in master projects where such themes are relevant and needed.
In relation to the competence profile of the degree it is the explicit focus of the course to ensure that the student will obtain knowledge about the fundamental principles of a number of modern molecular-genetic diagnostic methods and their use in disease research. Finally, the student will obtain knowledge about 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 student will acquire knowledge on how sophisticated molecular-genetic diagnostic methods are organised, implemented and quality controlled. The student will obtain skills to perform selected representative methods and analyses. Thus, the students achieve - through practical examples – a stronger theoretical knowledge on the molecular genetic methods, and furthermore they obtain 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 by use of antisense oligonucleotides.
Expected learning outcome
The learning objectives of the course are that the student demonstrates the ability 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 inherited 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 computer-based 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.
Content
The following main topics are contained in the course: Human Genetics and Molecular Biology. More specifically:
- 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 gene-expression (micro-arrays, RNA-seq 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 molecular therapeutic approaches for inherited diseases.
Literature
Peter Turnpenny Sian Ellard: Emery's Elements of Medical Genetics, Elsevier,9780702066856, 15th edition.
Herudover udvalgte artikler og øvelsemanual.
See Blackboard for syllabus lists and additional literature references.
See Blackboard for syllabus lists and additional literature references.
Examination regulations
Prerequisites for participating in the exam a)
Timing
Autumn
Tests
Participation in lab. work
EKA
N210022112
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
Additional information
The prerequisite examination is a prerequisite for participation in exam element a)
Prerequisites for participating in the exam b)
Timing
Autumn
Tests
Active participation in examinatoriums (80 % presence)
EKA
N210022122
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
Additional information
The prerequisite examination is a prerequisite for participation in exam element b).
Exam element a)
Timing
Autumn
Prerequisites
| Type | Prerequisite name | Prerequisite course |
|---|---|---|
| Examination part | Prerequisites for participating in the exam a) | N210022101, BMB815: Human Molecular Genetics - Molecular Pathology and Diagnostic Methods |
Tests
Report on lab work
EKA
N210022132
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
2
Additional information
Reexamination in the same exam period or immediately thereafter.
The examination form for re-examination may be different from the exam form at the regular exam.
The examination form for re-examination may be different from the exam form at the regular exam.
Exam element b)
Timing
January
Prerequisites
| Type | Prerequisite name | Prerequisite course |
|---|---|---|
| Examination part | Prerequisites for participating in the exam b) | N210022101, BMB815: Human Molecular Genetics - Molecular Pathology and Diagnostic Methods |
Tests
Project assignment
EKA
N210022102
Assessment
Second examiner: Internal
Grading
7-point grading scale
Identification
Full name and SDU username
Language
Normally, the same as teaching language
Examination aids
Allowed, a closer description of the exam rules will be posted under 'Course Information' on Blackboard.
ECTS value
3
Additional information
The examination form for re-examination may be different from the exam form at the regular exam.
Indicative number of lessons
Teaching Method
At the faculty of science, teaching is organized after the three-phase model ie. intro, training and study phase.
The intro-phase consists of lectures. The lectures provide an introduction to the different course topics, which are covered by the text book and primary literature such as scientific articles. In order to achieve the competences in the topics covered the course it is necessary that the students read the text book and literature.
In the training-phase competences in the central parts of the course are trained. This includes – pedigree analysis for the most common inheritance patterns and risc calculation. Competences in how to select the correct genetic diagnostic approach and how to analyze results is also trained. An understanding of the most frequent molecular pathologic mechanisms and suitable therapies thereto are also trained. Methods for genetic analysis at the population level and for association studies are trained. There is much emphasis on training an understanding and capability to interprete whole genome/transcriptome based analyses, for instance next generation sequencing. The examinatoriums are based on team work in solving genetic problems. In the laboratory exercises the student work in teams performing hands-on experiments with diagnostic methods and treatment of an inherited disease at the molecular level.
In the study-phase it is expected that the students individually study the textbook and work with problem-solving of theoretical exercises in genetics which are uploaded to blackboard. Moreover, preparation of oral presentations for the examinatoriums and a report on the practical laboratory exercises are central components of the study-phase. The students will receive feedback from the lecturers on these parts. The students are also expected to spend part of the study-phase on preparing for laboratory work and preparing a project assignment, which is part of the final examination of the course.