1. UNDERSTAND THE GENETIC BASIS FOR THE AETIOLOGY AND SYMPTOMATIC PRESENTATION OF A RANGE OF MEDICAL DISORDERS IN HUMANS.
2. A CRITICAL ASSESSMENT AND UNDERSTANDING OF THE MOTIVATION FOR THE STUDY OF WHOLE GENOMES AT HIGH RESOLUTION.
3. RECOGNISE AND EVALUATE THE INCREASING AND POTENTIAL ROLE AND IMPORTANCE OF MOLECULAR GENETICS AND GENOMICS IN CLINICAL DIAGNOSIS AND TREATMENT.
4. APPLY THE UNDERSTANDING AND KNOWLEDGE FROM 1 AND 2 AND ANALYSIS AND APPLICATION IN 3 TO CLINICAL SCENARIOS - TO ARRIVE AT STRATEGIES TO INVESTIGATE GENETICS CONDITIONS.
5. UNDERSTAND AND CRITICALLY EVALUATE THE TECHNIQUES AVAILABLE TO ANALYSE GENE EXPRESSION AND STRUCTURE AND BE ABLE TO INTERPRET DATA GENERATED BY THEM.

The module covers the contribution of human molecular genetics to modern medicine. A major theme will be the molecular basis of genetic diseases, the origin and types of mutations and their potential phenotypic consequences. Some of the more basic background to single gene diseases will be revised but the emphasis of the module will move towards genomics and the impact of the newer sequencing technologies on genetics. Gene Control through transcriptional regulation - activation and repression and the mechanisms of transcriptional control in eukaryotes will be reviewed along with the role of gene regulation in disease for example with imprinting and epigenetic phenomena which may impact on their severity.¿
Impacts on diagnosis and potential treatment will lead to discussions in the power of molecular genetics in post and pre-natal diagnosis and the ethical problems arising from this and the treatment of genetic diseases and current work with gene therapy and its future potential. The field, genomics, is revolutionary and is having far- reaching consequences in biology and health related areas. This module intends to cover this fast moving, important field of molecular biology with regard to human disease.

The Masters in Molecular Biology¿is delivered on campus through¿a combination of¿lectures workshops and practical classes alongside¿directed self-study.¿ The workshop activities will guide extensive directed independent study by the student.¿These directed independent tasks will allow you to demonstrate your understanding of Medical Genetics and Genomics.

Note that the module will mainly use current material from e- journals as it intends to look at the forefront of genetics - however the texts below will be relevant, they all have fairly recent new editions.¿

T. Strachan & A. P. Read, Human Molecular Genetics 4th ed., 2011. Garland Science. ISBN 978-0-815-34149-9.¿

Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K., Walter, P. (2015). Molecular Biology of the Cell, 6th edition. Garland Science. ISBN 978-0-8153-4106-2¿

T. Strachan, J. Goodship & P. Chinnery (2015) Genetics & Genomics in Medicine, Garland Science ISBN 978-0-8153-4480-3¿

You will need access to a computer¿with access to the internet.¿

Formative feedback will be given over the tasks associated with the module topics. Discussion between students will be encouraged allowing peer and tutor feedback to be given.¿

The module will be assessed by a 3-hour online examination, comprising a multiple-choice section of diverse questions from the course in the form of short answer questions and a seen question to consider the potential impact of genetics and genomics on the understanding and treatment of a chosen disease¿(1, 2, 3, 4, 5).


Full details of assessment are provided in the module handbook

The module covers the contribution of human molecular genetics to modern medicine. Starting with a recap of some of the more simple single-gene disorders you will quickly move on to look at the impact of newer sequencing technologies. Your study will lead on to discussion of the power of molecular genetics and its future potential. The field, genomics, is revolutionary and is having far- reaching consequences in biology and health related areas. This module intends to cover this fast moving, important field of molecular biology with regard to human disease.¿