Robert McFarland

ORCID iD
https://orcid.org/0000-0002-8833-2688
  • Keywords
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Mitochondria. Paediatric Neurology

Sources:
Robert McFarland (2014-01-23)

  • Websites
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http://www.newcastle-mitochondria.com

Sources:
Robert McFarland (2014-01-23)

Biography

In 2000 I began my research career studying the molecular consequences and associated clinical phenotypes of mitochondrial tRNA point mutations. Since then my research has included the identification of mitochondrial and nuclear gene defects causing disease in children, factors determining pathogenicity of mitochondrial DNA mutations and clinical research. The latter has specifically involved the development of clinical assessment tools (NMDAS and NPMDS), drug trials and more recently, bringing together a living cohort of 1000 individuals with confirmed mitochondrial disease.
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