Programmes of research

Genomic Medicine is transforming healthcare using new technologies to personalise medicine, improve diagnosis, predict response to drugs and offer patients new treatment opportunities. It is already making a big impact on diagnosis and treatment of congenital developmental disability and paediatric metabolic diseases as well as inherited cardiac, ophthalmic, neurological disease and cancers. Beyond the sphere of inherited disease, genomic medicine is beginning to be used to tailor drug treatments including for infectious diseases.

A number of specific collaborative programmes of research are being developed:

Rare Diseases Programme

The Rare Diseases Programme is the first component of the collaboration to be developed, with research activity formally commencing on 1st April 2014. Research activity includes a joint PhD scheme for graduates from PUHSC to undergo research training at the University of Manchester; joint research projects, which will be initiated by a pump-priming fund; scientific exchanges between the two institutions; and the development of specialist training courses.

Areas of interest include:

Reference Laboratory Programme

MAHSC’s expertise in training, including dedicated laboratory training facilities which are under development, will be used to assist with specialist training for members of PUHSC.

Cancer Genetics Programme

The Cancer Genetics Programme is currently under development.

Clinical Trials Programme

The Clinical Trials Programme will be developed in the future.

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Willink Biochemical Genetics User Survey 2015


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