"The rare disease programme will align itself closely with the new plans for rare disease research across the NIHR..."

Rare Diseases

Rare disease research is a priority for the NIHR Birmingham Biomedical Research Centre, and will be lead by Professor Gideon Hirschfield with co-ordinated contributions from Prof T Barrett at Birmingham Children’s Hospital.

The programme will be a joint partnership running alongside the Birmingham Centre for Rare Diseases (CfRD), using the infrastructure put in place by Birmingham Health Partners (BHP).

The programme aims to establish parallel paediatric and adult rare inflammatory disease clinics without basis to organ based phenotype, drawing on clinical and scientific expertise of adult and paediatric clinicians in Birmingham across inflammatory diseases. Further, the programme aims to immunophenotype patients with diagnosed and undiagnosed rare inflammatory diseases, using CyTOF technology, in the context of genomic studies, and present therapy.

Efforts within the programme will include design and delivery of phenotype based immunotherapy to patients on an ‘n=1’ basis and there will be a drive to ensure training is prioritised, so that a generation of clinicians and allied health professionals in pathway based, rather than organ based, medical practice develop for rare inflammatory disease.

The rare disease programme will align itself closely with the new plans for rare disease research across the NIHR, co-ordinated through the Cambridge Biomedical Research Centre.

 

FURTHER INFORMATION

 

 

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