2022 start September 

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 human fertility, stem cell biology, organism development and the cellular role of RNA.

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 six months undertaking extensive training in advanced laboratory techniques such as human cell culture, microscopy and cytogenetics before applying this knowledge to the study and diagnosis of human genetic diseases.

Example research projects include:

  • Clinical Functional Genomics of human peroxisomal disorders
  • Diagnostic FISH for Clinical Genetics: Avoiding unnecessary invasive tests
  • The role of human ribonucleoproteins (hnRNPs) in the 3D-organisation of the genome
  • Culture adaptation in human lymphoblastoid cell lines: The impact of media supplementation

Students also have the opportunity for NHS clinical work placements in the Sheffield Diagnostic Genetics Service, which is based in the Sheffield Children’s Hospital NHS Foundation Trust.


We accept medical students who wish to intercalate their studies. Find out more on the Medical School's website.

Apply now


The modules listed below are examples from the last academic year. There may be some changes before you start your course. For the very latest module information, check with the department directly.

Core modules:

Laboratory Techniques in Molecular Bioscience

This unit will provide training and practical experience in key laboratory techniques in molecular bioscience with a focus on human genetics. In particular, this module is designed to develop and practice core genetic and biochemical techniques so that students may progress confidently to the research project. Over a Period of 3 months, students will receive training in CRISPR genome editing technology in addition to other molecular biology techniques, including; protein and DNA isolation, SDS PAGE, Western analysis, protein over-expression, PCR, plasmid construction and restriction mapping.

30 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 MBB 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
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

Optional modules - three from:

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 Genetics of Human Disease

This module will address the ways in which genetic factors influence our lifetime health. The module will focus on the methodology used to identify genetic factors involved in human genetic disease; that is, next generation sequencing, diagnostic PCR, karyotype analysis, fluorescence in-situ hybridisation (FISH) and microarray, and how genetic abnormalities result in disease. The rapid advance in the understanding genetic basis of disease has led to the importance of genetic diagnostic testing in healthcare. The scientific tests used in this industry and the real-life patient cases will be addressed in this module.

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
Genomic Science

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 how genome sequencing can be used to understand the structure of human populations, profile microbial diversity and to trace the origins of disease outbreaks. 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 address fundamental biological questions.

15 credits
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
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
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. We are no longer offering unrestricted module choice. If your course included unrestricted modules, your department will provide a list of modules from their own and other subject areas that you can choose from.


This masters course will give you a solid grounding in experimental science, with personal supervision and tutorials by experienced scientists, based in modern, well-equipped labs, leading to a project where you’ll design and conduct your own research. You’ll learn cutting edge science from research leaders, and gain practice in reading scientific literature and writing reports.


Assessment is based on a combination of coursework, project work, formal examinations and a dissertation.


1 year full-time

Your career

Through professional laboratory training and the opportunity to build clinical competence recognised by diagnostic facilities across the UK, our graduates are well equipped to pursue a career in healthcare diagnostics, working for healthcare providers such as the NHS, or companies allied to the provision of healthcare such as pharmaceutical companies.

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 Trust and Cell Guidance Systems
  • Genetic Technologist at various NHS Foundation Trusts
  • Lab Technician, Lisbon University
  • Biotechnology Specialist, Shusaku Yamamoto
  • Medical Technical Officer, UK NEQAS
  • Diagnostic Scientist, Genesis Genetics

Students have also gone on to PhD training in:

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

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

Entry requirements

A 2:1 degree or equivalent university qualification in molecular biology or a related subject (eg biochemistry, genetics, biotechnology, and microbiology).

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

Candidates with professional experience may also be considered following interview.

Overall IELTS score of 6.5 with 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 also accept a range of other UK qualifications and other EU/international qualifications.

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


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

Apply now

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.

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