Module BIOL3221: MOLECULAR BASIS OF DISEASE

Department: BIOLOGICAL AND BIOMEDICAL SCIENCES

BIOL3221: MOLECULAR BASIS OF DISEASE

Prerequisites

• None.

Corequisites

• None.

Excluded Combination of Modules

• None.

Aims

• To provide an in depth knowledge of the molecular mechanisms underlying inherited and acquired disease processes and to instruct on the rational design of novel therapies.

Content

• The human genome and genetic diseases.
• Mapping human genes.
• Aneuploidy.
• Sex-chromosome aneuploids.
• Prenatal diagnosis of genetic disease.
• Autosomal recessive disorders, Autosomal dominant disorders.
• Sex-linked disorders.
• Haemoglobinopathies.
• Molecular Basis of Cancer: The origins of cancer.
• Angiogenesis.
• Metastasis.
• Oncogenes and signal transduction pathways.
• Cancer and the cell cycle.
• Cancer therapy I: drugs therapy II: Keratin mutations and skin blistering disorders.
• Lessons from keratin knockout mice.
• Desmin myopathies.
• The function of intermediate filament inclusions - hepato-biliary sclerosis.
• Cataract and the role of small heat shock proteins.

Learning Outcomes

• By the end of this module each student should be able to: Understand how inheritance of mutated genes leads to pathology either in childhood or in later life.
• Understand how the life style of an individual or his/her environment can give rise to genetic or physiological change within the adult soma that results in life threatening diseases.
• Understand how rational design of novel therapies can arise from knowledge of the molecular basis of disease.
• Explain the basis of genetic tests that identify individuals who are pre-disposed to disease and appreciate the social consequences of those tests.

• Extract, compile and review relevant scientific information from various sources and evaluate them critically.
• Acquire, interpret and critically analyse experimental and clinical and present the results effectively.

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

• Taught Component: Teaching and learning in this component is primarily through the means of lectures and seminars.
• Additionally the students will be expected to individually consider in depth a case study.
• Skills will be acquired through the searching, retrieval and presentation of data.
• Knowledge will be formatively assessed through the use of MCQs and a written examination.
• Recovery and interpretation of data will be assessed by means of a written report from the case study and a poster presentation.
• Understanding will be assessed by means of a written examination.

Teaching Methods and Learning Hours

Summative Assessment

Formative Assessment:

MCQs to assess knowledge.

■ 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