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PhD/MPhil Medical Genetics / Programme details

Year of entry: 2020

Programme description

Our PhD/MPhil Medical Genetics programme enables you to undertake a research project that will improve understanding of Medical Genetics.

The field of genomic medicine integrates basic and clinical research. At a genetic level, the aim is to identify the genetic basis of both single gene and complex disorders.

This includes studying the normal role of the genes and proteins that have been identified, as well as understanding the functional consequences of pathogenic genetic variants.

Ultimately, the aim is to translate this research knowledge into healthcare benefits, including improved diagnosis and management, as well as, ultimately, into new treatment methods for the conditions investigated.

The University of Manchester has internationally-recognised expertise in several areas of genomic medicine that include the following:

  • Biochemical genetics: Diagnosis, research and development of treatmentsof a range of metabolic and lysosomal diseases, including mucopolysaccharide diseases.
  • Developmental genetics: The main aim is to understand the cellular and molecular processes behind both normal development and genetic disease and to improve diagnosis and management of human genetic disorders and birth defects. Manchester leads the European Reference Network for this group of disorders. Major programs of work include studies on the genetic basis and molecular treatment of visual impairment; chromatin remodelling disorders, including Kabuki syndrome.
  • Health services research in genetics: Qualitative and quantitative programmes focused around the evaluation of genetics clinical services and the psychosocial impact of genetic disease.
  • Cancer genetics: Includes research into the inherited forms of breast and colorectal cancer. We also have specific interests in neurofibromatosis and schwannomatosis linked to nationally commissioned clinical services.
  • Neurogenetics: Includes conditions encountered in paediatric neurogenetic practice, with the aim of improving the diagnosis, management and, ultimately, treatment of these disorders. Particular expertise has been developed in the study of Aicardi-Goutières syndrome.
  • Inflammatory disorders: rare Mendelian forms of inflammation can provide insight into common disorders including systemic lupus erythematosis.
  • Renal genetics: studies on the lower urinary tract include characterising bladder disorders including urofacial syndrome and bladder exstrophy. Expertise is considerable in renal cystic disease and induced pluripotent stem cell (iPSC) modelling.
  • Cardiac Genetics: Studies on the rare inherited heart rhythm disorder catecholaminergic polymorphic ventricular tachycardia include variant characterisation and treatment modelling using iPSC.
  • Pharmacogenetics: study of how genetic variation can result in different responses to medication and how to avoid adverse reactions in clinical practice and the effects of medication taken in pregnancy on the developing fetus.

State-of-the-art genomic technologies including exome and genome sequencing are employed in the centre to facilitate the work.

Special features

Training and development

All of our postgraduate research students attend the Doctoral Academy Training Programme delivered by the Centre for Academic and Researcher Development (CARD).

The programme provides key transferable skills in areas such as commercial awareness, academic writing and public engagement. This training equips our postgraduates with the tools to progress beyond their research degree into influential positions within academia, industry and consultancy.

The emphasis is on enhancing skills critical to developing early-stage researchers and professionals, whether they relate to effective communication, disseminating research findings and project management skills.

See the  training and development  page for more information.

Teaching and learning

PhD/MPhil programmes are based on individual research projects that last three to four years (PhD) or one year (MPhil), working with a specific Primary Supervisor and Co-Supervisor(s).

Applicants are specifically matched with a Primary Supervisor and individual project based on their research interests and background.

International applicants interested in this research area can also consider the our PhD programme with integrated teaching certificate .

This unique programme will enable you to gain a Postgraduate Certificate in Teaching and Learning, whilst also carrying out independent research on your chosen project.

Scholarships and bursaries

Funded programmes and projects are promoted throughout the year. Funding is available through UK Research Councils, charities and industry. We also have other internal awards and scholarships for the most outstanding applicants from within the UK, EU and overseas.

For more information on available the types of funding we have available, please visit the  funded programmes  and  funding opportunities  pages.

What our students say

Find out more about what it's like to study at Manchester on the   Doctoral Academy Blog .


You will have access to a range of  research and learning facilities  across the University and at some of our partner organisations.

Disability support

Practical support and advice for current students and applicants is available from the Disability Advisory and Support Service. Email: