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.