Human and Molecular Genetics

Core modules:

Laboratory Techniques in Molecular Bioscience

This module will provide background knowledge, technical training and practical laboratory experience in key techniques in molecular bioscience with a focus on human genetics. In particular, the module is designed to develop and practice core genetic and biochemical techniques to enable students to be technically confident and prepared for a research project and career in the field of genetics and molecular bioscience. Students will receive training in a number of commonly used and cutting-edge techniques. For instance, students may be trained in CRISPR genome editing technology in addition to other molecular biology techniques, including; protein and DNA isolation, 2D protein gel electrophoresis, Western analysis, protein over-expression, PCR, plasmid construction and restriction mapping.

15 credits

Advanced Molecular diagnostics and cell culture techniques

This module delivers specialist training in advanced laboratory techniques that are used across molecular genetics, healthcare diagnostics and research. Here students will undertake intensive training in the laboratory, supported by digital training packages to develop high-level skills in techniques such as, but not limited to, human cell culture, cytogenetics, fluorescence microscopy and qPCR. Students will learn through lectures, digital training resources and hands-on practical experience in the laboratory. This module builds upon practical training received in semester one and will prepare students for their BIS484 research projects.

15 credits

Advanced Scientific Skills

This module builds on existing, and further develops, generic scientific skills to equip postgraduate taught students with strong competences in presenting and reporting their research work using written and oral formats, in analysing data and the scientific literature, and in acquiring and extending their critical analysis skills. Teaching will be delivered using a blended approach with a combination of lectures, workshops, tutorials and seminars together with independent study and on-line teaching.

Taught throughout the academic year, the module will be articulated around three units addressing: 

Unit 1) Scientific presentation skills. In this unit, students will explore how to develop their academic (writing and oral) presentation skills. Some of the topics taught may include how to formulate a research question and hypothesis, how to find information, and how to structure a scientific essay or report. Students will learn how to communicate effectively their research to a scientific, as well as lay, audience. Emphasis will be placed on short oral communications and poster preparation and presentation.  The learning objectives will be acquired through lectures, workshops, tutorials and independent study.

Unit 2) Critical analysis skills. This unit prepares students to develop their ability to analyse and appraise the scientific value of the published and unpublished literature. Workshops and lectures will introduce students to the process of critical appraisal of scientific work. 

Unit 3) Statistics and data analysis skills. In this unit, students will learn methods to gather and analyse large datasets. In particular, workshops and lectures will teach students the basics of R coding and statistics for application in biosciences. The unit may also deliver other forms of data analysis relevant to the programme of study. Teaching within this unit will be delivered mainly through on-line material, lectures and workshops. Independent study will be essential to complete the acquisition of skills.

15 credits

Advanced Research Topics

This unit will develop the ability of students to acquire information through the medium of research seminars and published scientific papers, and develop their critical analysis skills of research data. Students will attend research seminars and demonstrate their ability to summarise the information and reflect on their learning. They will also attend a journal club, in which they will present a recently published research paper that summarise the content and impact to other students. Assessment of the unit will be on the basis of the journal club presentation, a short report on the research seminars attended, and a formal examination testing the students' skills in data analysis and interpretation.

15 credits

Literature Review in Molecular Genetics

This unit involves an in-depth survey of the current literature relevant to the student's Research Project. It is carried out before laboratory work on the project commences in order to prepare the student with a comprehensive understanding of the relevant subject knowledge, approaches and techniques. Students will carry out an exhaustive search of the literature relevant to their project using the resources of the University, including appropriate databases and specialist search engines, as well as paper-based resources in the University Library. Based on primary research articles, review articles and textbooks, students will work independently under the supervision of the project supervisor to produce a document reporting on the background literature underpinning their research project. The literature review should demonstrate an ability to comprehend and synthesise the experimental evidence presented in the literature, to critically appraise previous studies and identify gaps in the knowledge. The unit involves primarily private study by the student under the direction of the project supervisor who will meet the student at regular intervals to discuss progress.

15 credits

Research Project

This unit provides a period of laboratory work, with training in experimental techniques, record keeping and writing up. Projects are supervised by a member of staff within the School of Biosciences or another suitable department, and are related to on-going research projects within the School or in other suitable research laboratories. This unit is designed to provide students with experience of undertaking investigations independently on a specific research topic, so that they can develop a research oriented approach, and gain experience of laboratory work in preparation for a future career in science. 

60 credits

Optional modules

A student will take 45 credits (three modules) from:

Stem Cell Biology

This lecture course will provide a thorough grounding in the biology of stem cells and regenerative medicine, with special reference to the molecular and genetic control of cell fate specification and differentiation. Students will also be enouraged to consider the clinical use of stem cells and their derivatives as well as the ethical issues that these raise. As this is a rapidly developing field, strong emphasis will be placed on understanding the current controversies in the literature.

15 credits

Cancer Biology

The unit will provide a description of the nature of genomic complexity as revealed using next generation sequencing technology. It will explore cancer genotypes and phenotypes in the context of 8 essential characteristics that are common to all cancers, and which collectively dictate malignant growth. These characteristics are : self-sufficiency in growth signals, insensitivity to growth-inhibitory signals, evasion of programmed cell death, limitless replicative potential, sustained angiogenesis, tissue invasion/metastasis, avoidance of immune destruction, and de-regulated cellular energetics. It will discuss how genome instability arises, and together with tumour-promoting inflammation, how these enable the emergence of all other cancer characteristics. It will utilize this conceptual framework to discuss recent and future developments in cancer therapeutics. A brief review of fundamental principles in genetics and molecular cell biology will be given. Nevertheless, students should have a basic understanding of genetics, molecular biology and cell biology.

15 credits

Genome Stability and Genetic Change

The module examines in detail the mechanisms that maintain genome integrity and generate genetic variation, both of which are essential to eukaryotic life. The lectures illustrate how the prevention and creation of changes in DNA make use of the same biochemical machinery. The main emphasis is on eukaryotes; reference is made to prokaryotes mainly as an aid to understanding the importance of conserved processes. Mechanisms studied in detail include single-strand break repair, protein-linked DNA break repair, homologous and non-homologous recombination, avoidance of replication errors, mismatch repair, excision repair and mutagenesis. Throughout the module experimental detail is included to illustrate how conclusions on gene function and interactions have been determined.

15 credits

The World of RNA

This module will analyse the vital roles that RNA plays in the life of a cell and how RNA is increasingly used as a tool to understand biology. The module will cover the following 'cutting edge' research topics: RNA interference, CRISPR Genome Editing, non-coding RNAs, together with the latest work on well known RNA based activities. These include transcription, RNA splicing, RNA stability, RNA export and translation and how all these processes are coupled in the cell to ensure efficient, quality-controlled gene expression. The module aims to present the latest innovations and discoveries in the RNA world and their application.

15 credits

Clinical Genomics of Cancer and Rare Genetic Diseases

This module will address the ways in which genetic factors influence our lifetime health. The module will focus on classic examples of leukaemia, lymphoma, solid tumours, rare inherited diseases and those commonly identified in prenatal diagnostic studies using real patient scenarios.  The molecular and cytogenetic technologies and the underlying clinical diagnostic strategies will be discussed to provide students with a thorough understanding of clinical genomic diagnostics across the breadth of human acquired and inherited diseases. This module will be delivered by a combination of academic staff from the university, and clinical geneticists from the NHS.

15 credits

Human Genomics, Proteomics and Genome Biology

A top-down approach to biology, simultaneously investigating the structure and function of the entire genome and its products, both contrasts with and complements the traditional gene-by-gene approach, allowing us a birds-eye view. In this module, we cover genome-wide approaches to studying the genetic causes and diagnosis of complex and polygenetic human disease. We then discuss how methods such as RNA-seq, ChIP-seq and 4C can be used to investigate the genome-wide transcriptional profile, the chromatin landscape and the three-dimensional structure of the genome. Finally we describe the use of technologies such as mass spectrometry to investigate the complete proteome of a cell. The module builds on the material from the level 2 module Genes, Genomes and Chromosomes, to illustrate how cutting-edge genomic and proteomic methods can be used to address fundamental biological questions. 

15 credits

Human Reproduction and Fertility

This module will address some of the processes underlying human fertility: that is, hormonal regulation of the reproductive systems, gametogenesis and fertilisation. The module will then consider methods of contraception, reasons for infertility, and issues relating to the assisted reproductive technologies. Finally, the importance of genetic imprinting will be discussed, together with a consideration of the impact of failures in imprinting.

15 credits

Genetic Pathways from Zygote to Organism

Multicellular organisms develop from a single zygote and in the case of humans, culminates in a mature human body consisting of over a trillion cells and around 200 different cell types. This module will examine the developmental mechanisms and genes that regulate pattern formation and cell identity in multicellular eukaryotes. We will focus on the role of key genes in the regulation of different developmental processes and the mechanisms that determine the correct temporal and spatial expression of these genes. We will illustrate these principles using examples from model organisms including Mus musculus, Caenorhabditis elegans, Drosophila melanogaster and Arabidopsis thaliana. These systems have significantly informed our understanding of human disease but also demonstrate the different mechanisms through which cell fate and complexity are controlled.

15 credits