Medical Genetics (Research)

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.
  - Ophthalmic genetics: studies on Mendelian and complex conditions including retinal and corneal dystrophies and age-
  related macular degeneration. Expertise in bioinformatic analysis of next generation sequencing data, and functional and
  treatment modelling using induced pluripotent stem cells (iPSC).

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