Translating genomic information into improved human health.
We combine our world-class expertise in stem cell research, genomics, statistics, and in organizing clinical trials for rare disease with our key strengths in rare neuromuscular, skeletal and cardiovascular disease.
As well as training and educating the next generation of biologists, clinicians and computational scientists, we work together to understand the biology of disease, develop novel diagnostic assays and treatment options.
We work closely together with our on-site partners NHS Northern Genetics Service and the NHS Newcastle Fertility Centre, along with a number of spin-off companies (hosted on-site) with access to state-of-the-art facilities.
Our scientists and physicians have contributed to the following developments in genetic medicine:
- Genome sequencing is now being implemented as a routine diagnostic test for rare genetic diseases and cancer in UK.
- Treatment of rare neuromuscular diseases like Duchenne Muscular Dystrophy and Spinal Muscular Atrophy is becoming a reality.
- Mitochondrial disease may be prevented from being passed on from mother to child.
- Patients with cancer predisposition syndromes like Lynch Syndrome are diagnosed earlier and can be offered aspirin to reduce their cancer risk.
- The corneal epithelial stem cells are being used in transplant therapies for patients with retinal disease.
- Drug repurposing trials have started for metaphyseal chondrodysplasia, a rare bone disease.
Feel free to contact us if you want to study or work with us, learn more about our work and join us in working on our vision of Translating genomic information into improved human health.