This module aims to:

1. Explore the application of molecular genetics and computational biology in the study and treatment of human disease;

2. Show how the human genome project has resulted in the identification of disease-associated genes;

3. Study in detail selected diseases such as inherited metabolic disease and muscular dystrophy;

 4. Develop in students the  ability to apply, critically evaluate and interpret this knowledge to solve complex problems in molecular medicine.

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

1. Evaluate critically how genetic information can be used to identify susceptibility to disease;

 2. Explain, in detail, the molecular processes underlying inherited diseases such as inherited metabolic diseases, phenylketonuria and muscular dystrophy;

3. Appraise the the latest developments in the use of adult and embryonic stem cells in regenerative medicine;3.

4. Review critically the challenges associated with drug-discovery programmes;

5. Critically evaluate the latest bioinformatics and computer-based approaches used in modern drug design;

6. Synthesise information, critically review evidence to support conclusions, and define complex problems by applying appropriate knowledge and skills.

7. Students will also develop independent learning and self-evaluation skills

Lecture -

This refers to scheduled lectures

Tutorial -

This refers to scheduled tutorials

Other -

Lecture 1:    Human disease genes, classical studies and approaches.               

Lecture 2:    Monogenetic diseases.

Lecture 3:    Original and next generation genome mapping and sequencing.

Lecture 4:    Genome content and applications ..... of flies and men (and fish).

Lecture 5:    The challenge of common diseases.

Lecture 6:    Polygenetic diseases.

Lecture 7:    Examples of inherited metabolic disease. Overview of inherited metabolic diseases.

Lecture 8:    Phenylketonuria.

Lecture 9:      The phenylalanine hydroxylase gene.

Lecture 10:    Muscular dystrophy. 

Lecture 11:    Diabetes and insulin resistance

Lecture 12:      Introduction to stem cells – Description of stem cells? Differences between adult and embryonic stem cells; potential applications of science and medicine; therapeutic and reproductive cloning, human/animal hybrids

Lecture 13:    Embryonic stem cells - Mechanisms of self-renewal; patient matched embryonic stem cells; induced pluripotent stem cells (iPS cells) .        

Lecture 14:  Adult stem cells - Mechanisms of self-renewal; stem cell niches; major types of adult stem cells - mesenchymal stem cells, hematopoietic stem cells, skin cells.      

Lecture 15:    Stem cells in regenerative medicine – Use in specific diseases including cardiac disease, Parkinson''s Disease, diabetes, Duchenne muscular dystrophy - recent advances using the Golden Retriever dog model.

Lecture 16:    Stem cells in renal medicine - The potential use of stem cell therapy to treat kidney disease.

Lecture 17:    Cancer stem cells - Identification of cancer stem cells; potential molecular based technologies for targeting cancer cells.

Lecture 18:    The challenge of cancer drug discovery 1: targets for therapeutic intervention.

Lecture 19:    The challenge of cancer drug discovery 2: targeted cancer therapy.

Lecture 20:     The challenge of cancer drug discovery 3: predicting patient response and personalised medicine.

Lecture 21:    Computational approaches to drug discovery. What are we looking for? Characteristics of good drug targets and good drugs.

Lecture 22:     Targets from systems and pathway simulations.

Lecture 23:     Targets from genome analysis.

Lecture 24:     Structure-based drug design.

Lecture 25:     Ligand-based drug design.

Tutorials:

1.    Critical evaluation of the scientific literature I (Topic to be selected by student).

2.    Critical evaluation of the scientific literature II (Topic to be selected by student)

3.    Drug discovery programmes targeting human diseases I