Module BIOL2561: CLINICAL GENETICS AND BIOCHEMISTRY

Department: Biosciences

BIOL2561: CLINICAL GENETICS AND BIOCHEMISTRY

Prerequisites

• None

Corequisites

• None

Excluded Combination of Modules

• None

Aims

• To provide a view of major metabolic pathways in humans, and their control, in relation to diseases caused by metabolic deficiencies.
• To explore biochemical analyses used in diagnosis of disease.
• To describe the types of DNA variability in the human genome, and how they can be detected.
• To relate DNA variability to genetic diseases.

Content

• Glycogen, lipid, nucleotide and amino acid metabolism in relation to disease.
• Biochemical methods in metabolite analysis and disease diagnosis.
• Human genetic variability and its analysis.
• Genetic diseases.

Learning Outcomes

• Knowledge of the biochemical regulation of metabolism, and the consequence of failure in terms of disease.
• Knowledge of the scientific basis of biochemical tests used in disease diagnosis.
• Knowledge of the different types of DNA variation that exist between individual humans, and how the variation is linked to human diseases.
• Knowledge of how DNA polymorphisms may be detected.

• Practical skills in carrying out biochemical assays to detect and analyse metabolites important for clinical diagnosis.
• Practical skills in carrying out molecular biological techniques used in detection and analysis of DNA polymorphisms.

• Numeracy, in data analysis, and calculations involved in data handling.
• IT skills, in using online databases.
• Communication skills, using the written word and graphics, involved in human physiology practical reports.
• Team work, working in small groups in human physiology practical classes.
• Self-motivation, in self-guided learning.

Modes of Teaching, Learning and Assessment and how these contribute to the learning outcomes of the module

• Lectures deliver subject-specific knowledge.
• Workshops reinforce subject-specific knowledge and understanding gained from lectures and the development of key and subject-specific skills.
• Practical classes allow students to utilise subject-specific knowledge gained from lectures, and support the development of key and subject-specific skills.
• Tutorials give enhancement of the student learning experience, supporting attainment of all learning outcomes.
• Self-guided learning contributes to subject-specific knowledge and self-motivation.
• Practical reports are based on subject-specific knowledge and demonstrate subject-specific skills in carrying out experimental work and data analysis, as well as key skills.
• Problem Exercises (Data Handling) demonstrate subject-specific skills in data handling and key skills in numeracy.
• Unseen examinations demonstrate achievement of the appropriate level of subject-specific knowledge with an emphasis on understanding and communication (essay and problem-based questions) or recall of factual knowledge (multiple choice or short answer question tests).

Teaching Methods and Learning Hours

Summative Assessment

Formative Assessment:

Regular formative assessments including data analysis, interpretation and problem solving throughout the module; 4 assessments over 2 terms.

■ Attendance at all activities marked with this symbol will be monitored. Students who fail to attend these activities, or to complete the summative or formative assessment specified above, will be subject to the procedures defined in the University's General Regulation V, and may be required to leave the University