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Next Generation Neurology
January 2017

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine

Author Affiliations
  • 1Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
  • 2Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom
  • 3Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom
JAMA Neurol. 2017;74(1):11-13. doi:10.1001/jamaneurol.2016.4506

Genetic diagnostics have undergone a revolution in the last decade, fueled by technological advances heralded by the development of massively parallel DNA sequencing. Within a remarkably short time, the new chemistry moved from the research laboratory into clinical practice, accelerating the pace of gene discovery and allowing the rapid diagnosis of genetic disorders on an unprecedented scale. There is a strong argument that so-called next or third generation sequencing will have the greatest effect in neurology, which is characterized by a seemingly endless list of discrete clinical syndromes, many thought to have a unique genetic basis. Until 2011, clinical neurogenetic practice has been frustrating. It has been difficult to screen more than a handful of the known genetic causes of a particular disorder, but we now face the real prospect of a reaching genetic diagnosis for every patient walking to the clinical door. Mitochondrial disorders provide a good illustration of the effect of this new technology in neurogenetic practice.

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