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    Human and Molecular Genetics

    School of Biosciences, Faculty of Science

    Explore human genetics and develop an understanding of how human genetic diseases are diagnosed clinically at the chromosome and DNA levels.
    Image of postgraduate Molecular Biology and Biotechnology students using equipment in lab

    Course description

    Designed in collaboration with the NHS: Sheffield Diagnostic Genetics Service, this course is for students who are fascinated by medical genetics.

    Through theoretical and hands-on practical skills training you’ll explore human genetics and develop an understanding of how human genetic diseases are diagnosed clinically at the chromosome and DNA levels. You’ll also have opportunities to explore the wider implications of genetics in fields such as genomics, human fertility, stem cells and cancer biology.

    As part of your course, we’ll train you in a wide range of exciting, modern laboratory techniques, including CRISPR genome editing, molecular cloning, organism handling, DNA sequence analysis, PCR, SDS-PAGE and western blotting.

    The biggest part of your course is the medical genetics laboratory project. Here you’ll spend up to six months undertaking extensive training in advanced laboratory techniques such as human cell culture, microscopy,cytogenetics and qPCR and applying this knowledge to the study and diagnosis of human genetic diseases.

    Example research projects include:

    • Clinical Functional Genomics of human peroxisomal disorders
    • The role of RNA regulatory proteins in telomere homeostasis and genome stability
    • Genomic Haemato-Oncology Diagnostics: Improving Patient Outcomes
    • The role of human ribonucleoproteins (hnRNPs) in the 3D-organisation of the genome

    NHS placements

    There are opportunities to participate in NHS placements via our collaboration with the Julia Garnham Centre based in the School of Biosciences. The centre provides students with essential experience and training in genetic analysis, upskilling the next generation of genomic scientists and technologists.

    After initial training, placement students will work under the supervision of NHS Geneticists from the Sheffield Children's NHS Foundation Trust to prepare cases for NHS Healthcare Scientists to analyse.


    A selection of modules are available each year - some examples are below. There may be changes before you start your course. From May of the year of entry, formal programme regulations will be available in our Programme Regulations Finder.

    Core modules:

    Laboratory Techniques in Molecular Biology

    This module will provide background knowledge, technical training and practical laboratory experience in key techniques in molecular biology and biotechnology. In particular, the module is designed to develop a student's understanding and technical training in molecular biology techniques. These may include the use of information from nucleic acid and protein sequence analyses for to design experiments, gene engineering techniques (for instance, enzymatic digest, DNA cloning, plasmid construction and production, DNA electrophoresis), protein and nucleic acid quantitative and qualitative analysis techniques (for instance, PCR and western blot) and cutting-edge techniques of genome editing (Crispr-Cas9). Students will become technically competent and prepared for a research project and career in the field of molecular biology and biotechnology. 

    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
    Literature Review

    This unit involves an in-depth survey of the current literature relevant to the student's Research Project (MBB6403). 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. The exact nature and scope of the literature review will be determined by discussion between the student and the supervisor. Students will build upon the skills in literature searching and interpretation they have developed in their undergraduate studies, making use of a variety of databases and literature-searching tools. 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.

    30 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. Students will attend Departmental research seminars and monitor the publication of new scientific papers relevant to their research area. They will also attend a journal club, in which they will present a recently published research paper and summarise the presentations of other students. Assessment of the unit will be on the basis of the journal club presentation and a series of short reports on research seminars, journal club presentations and newly published scientific papers.

    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 Department 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 - three 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

    TThe 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 preventing and creating 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

    The content of our courses is reviewed annually to make sure it's up-to-date and relevant. Individual modules are occasionally updated or withdrawn. This is in response to discoveries through our world-leading research; funding changes; professional accreditation requirements; student or employer feedback; outcomes of reviews; and variations in staff or student numbers. In the event of any change we'll consult and inform students in good time and take reasonable steps to minimise disruption.

    Open days

    An open day gives you the best opportunity to hear first-hand from our current students and staff about our courses.

    Find out what makes us special at our next online open day on Wednesday 17 April 2024.

    You may also be able to pre-book a department visit as part of a campus tour.Open days and campus tours


    1 year full-time


    This masters course will provide you with high-level skills in practical experimental science, through personal supervision and training by experienced academic scientists, in modern, well-equipped laboratories, leading to a project where you’ll design and conduct your own research.

    Teaching will also be delivered using lectures, seminars and small grouping teaching to develop your academic understanding and become skilled in critically analysing scientific literature and producing your own scientific writing.


    Assessment is based on a combination of coursework, practical laboratory work, oral presentations, formal examinations and a dissertation.

    Your career

    The professional laboratory training offered by this course and the opportunity to develop clinical skills recognised by diagnostic facilities across the UK, means Human and Molecular Genetics MSc graduates are well equipped to pursue a career in healthcare diagnostics, working for healthcare providers such as the NHS, companies allied to the provision of healthcare or in world-leading research centres.

    Previous graduates are now working in roles including:

    • NHS Scientist Training Programme in Genomic Counselling, Cancer Genomics and Genomics at various NHS Trusts -
    • Research Assistant, Wellcome Sanger Institute
    • Research Scientist, The Francis Crick Institute
    • Clinical Laboratory Technician, Illumina
    • Biotechnology Specialist, Shusaku Yamamoto
    • Medical Technical Officer, UK NEQAS
    • Diagnostic Scientist, Genesis Genetics

    Students have also gone on to PhD training in:

    • Cancer research
    • Infection, Immunity and Cardiovascular Disease
    • Molecular Genetics
    • Bioinformatics

    By choosing the School of Biosciences for your postgraduate study you'll join our global alumni network, where 93% of our biosciences graduates are employed in life sciences or related fields across the globe. Explore our interactive map of graduate destinations:

    Read our student profiles to find out more about the various careers our students have pursued and how the course has helped them to succeed.

    Read all student profiles for this course


    School of Biosciences

    Firth Court quad

    The School of Biosciences brings together more than 100 years of teaching and research expertise across the breadth of biology.

    It's home to over 120 lecturers who are actively involved in research at the cutting edge of their field, sharing their knowledge with more than 1,500 undergraduate and 300 postgraduate students.

    We carry out world-leading research to address the most important global challenges such as food security, disease, health and medicine, ageing, energy, and the biodiversity and climate crises.

    Our expertise spans the breadth and depth of bioscience, including molecular and cell biology, genetics, development, human physiology and pharmacology through to evolution, ecology, biodiversity conservation and sustainability. This makes us one of the broadest and largest groupings of the discipline and allows us to train the next generation of biologists in the latest research techniques and discoveries.

    Entry requirements

    Minimum 2:1 undergraduate honours degree in molecular biology or a related subject (e.g. biochemistry, genetics, biotechnology, microbiology).

    We also accept medical students who wish to intercalate their studies.

    We may also consider your application if you do not meet the standard academic requirements but you have relevant professional experience. An interview will be required in this case.

    We also consider a wide range of international qualifications:

    Entry requirements for international students

    Overall IELTS score of 6.5 with a minimum of 6.0 in each component, or equivalent.

    Pathway programme for international students

    If you're an international student who does not meet the entry requirements for this course, you have the opportunity to apply for a pre-masters programme in Science and Engineering at the University of Sheffield International College. This course is designed to develop your English language and academic skills. Upon successful completion, you can progress to degree level study at the University of Sheffield.


    We accept medical students who wish to intercalate their studies. Find out more on the School of Medicine and Population Health website.

    If you have any questions about entry requirements, please contact the department.


    You can apply now using our Postgraduate Online Application Form. It's a quick and easy process.

    Apply now


    +44 114 222 2341

    Any supervisors and research areas listed are indicative and may change before the start of the course.

    Our student protection plan

    Recognition of professional qualifications: from 1 January 2021, in order to have any UK professional qualifications recognised for work in an EU country across a number of regulated and other professions you need to apply to the host country for recognition. Read information from the UK government and the EU Regulated Professions Database.