University of Newcastle upon Tyne
Institute of Genetic Medicine
Prof. Rita Horvath
NE13BZ, Newcastle upon Tyne, UK
Phone: (+44) 0191 241 8855
The Institute of Genetic Medicine at Newscastle University identified and defined Neuroferritinopathy, which is a dominantly inherited form of Neurodegeneration with Brain Iron Accumulation. UNEW defined the clinical presentation and neuro-radiological features of neuroferritinopathy, and is the major UK centre for NBIA referral for molecular diagnosis. UNEW currently holds clinical data and biosamples from over 70 NBIA patients, including four full autopsies. The UNEW-IGM has over 150 staff consisting of clinical and basic scientists studying the molecular basis of disease in 30 research groups. Three major research groups focus on neurogenetics and neuromuscular disease, and have a strong track record in gene identification, biomarker studies, and developing treatments for rare neurogenetic diseases. The centre has considerable experience co-ordinating and participating in multi-national clinical trials led through academia and in collaboration with industry, and hosts TREAT-NMD, an FP7 funded project dedicated to translational research in neuromuscular disease. The IGM at UNEW also hosts the UK Medical Research Council centre for Translational Muscle Disease (jointly with UC London), and a National Institute of Health Research (UK) Biomedical Research Centre. UNEW has state-of-the-art clinical research facilities, including dedicated research MRI and PET.