Research

The Manchester Centre for Genomic Medicine is transforming healthcare using new technologies to personalise medicine, improve diagnosis, predict response to drugs and offer patients new treatment opportunities. It represents an integrated and multidisciplinary grouping of clinical and basic scientists in Manchester.

Our well-established research portfolio covers a broad spectrum of healthcare and includes programmes in cancer genetics, neuropsychiatry, developmental and functional eye disorders, biochemical genetics and birth defects. The overarching aim is to identify the genetic basis of both single gene and complex disorders. Genetic Medicine is closely associated with a number of NHS Foundation Trusts and the Manchester Biomedical Research Centre, the NIHR Musculoskeletal Biomedical Research Unit and Nowgen.

Find out more about our research areas:

Biochemical genetics

We deliver a bench-to-bedside approach to the research and development, diagnosis and treatment of a range of metabolic and lysosomal disorders, including mucopolysaccharide diseases, for which Manchester is the leading centre for research and treatment in Europe.

Case study: New enzyme treatment trialled for paediatric inherited metabolic disease

Developmental genetics

We have an international reputation for dysmorphology, leading to numerous successes in disease gene identification e.g. Ohdo syndrome and defining important normal human developmental pathways. The clinical research programme has defined the natural history of a number of rare inherited disorders.

Case study: Largest investment in the world into Cleft Lip and Palate Research

Ophthalmic genetics

We are the leading UK research group defining forms of inherited blindness. Researchers have worked with clinicians, counsellors, diagnostic and bioinformatic scientists to introduce Next Generation Sequencing technology for patient benefit.

Case study: New genetic test developed for inherited eye disease

Common disease genetics

A large work-programme is identifying genetic variants relevant to common diseases. Genome wide association studies are undertaken by the Centre for Integrated Genomic Medical Research (CIGMR) and the Arthritis Research UK Epidemiology Unit, which has already had major successes, including the identification of important variants predisposing to rheumatoid arthritis.

Case Study: Breakthrough in identification of genes related to spinal tumours

Clinical neurogenetics

Research focuses on conditions encountered on paediatric neurogenetics, to improve the diagnosis, management and, ultimately, treatment of these disorders. We have a focus on Aicardi-Goutières syndrome (AGS), a rare Mendelian mimic of congenital infection showing overlap with systemic lupus erythematosus at a clinical and pathological level.

Case study: Genes identified that are linked to severe learning disabilities / Classifying intracranial calcification in children

Huntington disease

Our research concentrates on cognitive and behavioural aspects of Huntington disease (HD). We have an international reputation as one of the largest contributors to the European Huntington Disease Network (EHDN). We participate in international multi-centre observational studies and a number of collaborative projects including clinical trials of potential new treatments.

Case study: European HD Registry - A pioneering international observational study

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2015-08-28
Willink Biochemical Genetics User Survey 2015

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2015-01-01
Saint Mary’s Hospital set to deliver world-leading genomics project in fight against cancer and rare diseases