The Institute of Human Genetics (IHG) 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-IHG 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 IHG 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.
Dr. Chinnery is clinical neurologist and director of the IHG. He has extensive experience in the clinical assessment, investigation and treatment of adults and children with neurogenetic diseases, and both run molecular genetics laboratories. PFC has designed and led clinical trials in neurogenetic diseases, including Leber hereditary optic neuropathy, MELAS and Friedreich’s ataxia. RH has over 15 years experience in neurogenetics and molecular and biochemical diagnosis of neurogenetic disorders. Both PFC and RH have worked extensively with LMU, with whom they have ongoing research collaborations. Dr. Blamire leads the MR physics development team at the Magnetic Resonance Centre at UNEW, having worked on neurodegenerative disease and brain iron disorders for over 10 years.
Main tasks in the consortium
•Leader of the WP6 (Ethics)
•Partner in WP1, WP2, WP4
•Central analysis centre for MRI scans
• Leader of the WP6 (Ethics)
• Partner in WP1, WP2, WP4
• Central analysis centre for MRI scans