First-line genomic diagnosis of mitochondrial disorders
Nature Reviews Genetics
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Chinnery, P., & Raymond, L. (2018). First-line genomic diagnosis of mitochondrial disorders. Nature Reviews Genetics, 19 399-400. https://doi.org/10.1038/s41576-018-0022-1
Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.
FLR receives support from the MRC, Rosetree Foundation, National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust. RH is a Wellcome Investigator (109915/Z/15/Z), who receives support from the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council (UK) (MR/N025431/1), the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z) and the Newton Fund (UK/Turkey, MR/N027302/1). PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z), and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2), the Medical Research Council (UK) Centre for Translational Muscle Disease (G0601943), the Evelyn Trust, and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge.
WELLCOME TRUST (101876/Z/13/Z)
WELLCOME TRUST (101876/B/13/A)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Wellcome Trust (109915_A_15_Z)
External DOI: https://doi.org/10.1038/s41576-018-0022-1
This record's URL: https://www.repository.cam.ac.uk/handle/1810/279431