Medical Genetics MPhil

Our PhD/MPhil Medical Genetics programme enables you to undertake a research project that will improve understanding of Medical Genetics.<br/><br/>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.<br/><br/>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.<br/><br/>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.<br/><br/>The University of Manchester has internationally-recognised expertise in several areas of genomic medicine that include the following:<br/><br/><br/>- **Biochemical genetics**: Diagnosis, research and development of treatmentsof a range of metabolic and lysosomal <br/><br/><br/> diseases, including mucopolysaccharide diseases.<br/>- **Developmental genetics**: The main aim is to understand the cellular and molecular processes behind both normal <br/><br/><br/> development and genetic disease and to improve diagnosis and management of human genetic disorders and birth <br/> defects. Manchester leads the European Reference Network for this group of disorders. Major programs of work include <br/> studies on the genetic basis and molecular treatment of visual impairment; chromatin remodelling disorders, including <br/> Kabuki syndrome.<br/>**-- Health services research in genetics**: Qualitative and quantitative programmes focused around the evaluation of genetics <br/> clinical services and the psychosocial impact of genetic disease.<br/>-** Cancer genetics**: Includes research into the inherited forms of breast and colorectal cancer. We also have specific <br/> interests in neurofibromatosis and schwannomatosis linked to nationally commissioned clinical services.<br/>-** Neurogenetics:** Includes conditions encountered in paediatric neurogenetic practice, with the aim of improving the <br/> diagnosis, management and, ultimately, treatment of these disorders. Particular expertise has been developed in the study <br/> of Aicardi-Goutières syndrome.<br/>-** Inflammatory disorders**: rare Mendelian forms of inflammation can provide insight into common disorders including <br/> systemic lupus erythematosis.<br/>**- Renal genetics**: studies on the lower urinary tract include characterising bladder disorders including urofacial <br/> syndrome and bladder exstrophy. Expertise is considerable in renal cystic disease and induced pluripotent stem cell (iPSC) <br/> modelling.<br/>**- Cardiac Genetics**: Studies on the rare inherited heart rhythm disorder catecholaminergic polymorphic ventricular <br/> tachycardia include variant characterisation and treatment modelling using iPSC.<br/>**- Pharmacogenetics**: study of how genetic variation can result in different responses to medication and how to avoid <br/> adverse reactions in clinical practice and the effects of medication taken in pregnancy on the developing fetus.<br/>**- Ophthalmic genetics**: studies on Mendelian and complex conditions including retinal and corneal dystrophies and age- <br/> related macular degeneration. Expertise in bioinformatic analysis of next generation sequencing data, and functional and <br/> treatment modelling using induced pluripotent stem cells (iPSC).<br/><br/><br/>State-of-the-art genomic technologies including exome and genome sequencing are employed in the centre to facilitate the work.