module specification

BM7042 Biomedical Diagnostics focuses on current and emerging wet techniques used to analyse disease biomarkers, with an emphasis on genomic markers, for diagnosis in medicine. It runs in the Autumn semester and is assessed by an in-course test and an essay.  There are no pre-requisites other than satisfaction of general entry requirements, and it includes a component of laboratory work.

The module aims to give an understanding of the principles of analyte analysis, illustrated by selected techniques and to give an understanding of biomarker types in disease. It will also give students an understanding of the molecular lesions which cause common genetic diseases and the techniques used to detect them and allow then to illustrate the techniques currently used in molecular medicine by which infectious and genetic diseases may be diagnosed. They will be able to consider the potential of genomic and proteomic analysis in diagnosis in medicine, review provision of genetic diagnostics in the health service and consider the ethical implications of diagnostic outcomes and identify and evaluate emerging techniques in molecular diagnosis.

Detection of atoms and small molecules in clinical samples;
Antibody-based techniques including ELISA, immunohistochemistry, nephelometry, FACS;
Review of human genetic diseases: types of mutations; single gene and polygenic disorders; autosomal and sex-linked recessive and dominant inheritance; chromosomal abnormalities;
Molecular techniques: PCR, gene expression analysis (real time PCR, expression profiling) and proteomics (e.g. use of MALDI-TOF), ISH / FISH, cytogenetics and pre-natal diagnosis, CGH;
Detection of mutations in hereditary genetic diseases and cancers;
Detection of infectious diseases (viral, bacterial, fungal, protozoan) by molecular methods;
Prenatal diagnosis and family screening – procedures, outcomes and practice in the UK;
New techniques and their potential impact.

Students will be directed in their learning through a programme of lectures (22 hrs), tutorials focussing on real-world case studies and problems (8 hrs), and practical work (12 hrs).  In addition there will be directed learning in preparation for and / or reflection on, lectures (10 hrs), tutorials (8 hrs) and practical classes (4 hrs); directed learning for preparation for an in-class test (14 hrs); and self-directed learning (121 hrs).   Students will develop their knowledge and understanding of the subject, lab skills and their ability to apply their knowledge to real-world problems.
PDP: as indicated in the above summary, material on this module will allow students to develop skills in problem solving and evaluation of information which will enhance employability. Laboratory work also enhances time-management and personal organisational skills.

On successful completion of this module students will be able to:

1. Show a thorough understanding of the principles of analyte detection and apply them to the detection of a wide range of biomarkers;
2. Show a thorough understanding of the use of antibodies in diagnostic methodologies;
3. Demonstrate a deep understanding of molecular defects underlying common genetic diseases and methodologies currently used to detect them;
4. Show a thorough understanding of the key methodologies currently used in molecular diagnostics of infectious disease;
5. Show an awareness of ethical issues associated with the diagnosis of genetic disease;
6. Evaluate and interpret contemporary research in molecular diagnostics.

The module will be summatively assessed by an in-course test (50%) and by completion of a substantial individual 2,500 word report on a contemporary issue (50%).
To pass the module students must achieve a minimum aggregate mark of 50%

Texts:
Buckingham L. and Flaws M.L. (2007).  Molecular diagnostics : fundamentals, methods, and clinical applications.  Philadelphia: F.A. Davies.
Burtis, C.A., Ashwood E.R. and Bruns D.E. (2007). Tietz Fundamentals of Clinical Chemistry (6th edition). Saunders.
Burtis, C.A., Ashwood E.R. and Bruns D.E. (2006). Tietz Textbook of Clinical Chemistry and Molecular Diagnostics (4th edition). Saunders.
McPherson, R.A. and Pincus, M.R. eds. (2007).  Henry's clinical diagnosis and management by laboratory methods. Philadelphia : Saunders Elsevier.
Patrinos G.P. and Ansorge W. (2010). Molecular Diagnostics (2nd edition).  Elsevier Academic press.

Journals:
Clinical Chimica Acta  
Includes original articles on the characterisation and measurement of disease biomarkers, population studies, genetics and gene analysis, monitoring and assaying microbial infection.
Clinical Chemistry  
Articles free if older than one year; includes original work on molecular diagnostics and genetics, proteomics and protein markers, cancer diagnostics, diagnostic techniques, drug monitoring and toxicology.
Journal of Molecular Diagnostics
Articles free if older than one year; variety of article formats, including basic research in methodology, short reviews, commentaries, technical advances.