Institute of Genetic Medicine

Neurological & Neuromuscular Genetics

Neurological and Neuromuscular Genetics

Translational research in neurological and neuromuscular diseases holds a prominent role within the Institute.

This ambitious research receives support from the:

  • National Institute for Health Research
  • Wellcome Trust
  • Medical Research Council

We have recognition for our groundbreaking work. Newcastle, together with University College London, gained Medical Research Council centre status.

Our research

This allows us to focus on the translational aspects of neuromuscular research. It provides us with a group of clinicians and scientists of wide expertise and interests.

Professors Kate Bushby, Volker Straub and Hanns Lochmüller are leading clinical scientists. They work together with other local researchers on:

  • diagnostics
  • research
  • standards of care

for genetic muscle disease. The neuromuscular group has received significant support from the European Union.

This is for organising a successful international collaboration. It develops and introduces novel treatments for neuromuscular disorders (TREAT NMD).

Wellcome Trust

Professor Rita Horvath and Dr Patrick Yu-Wai-Man are principal investigators. They work in the Wellcome Trust Centre for Mitochondrial Research.

They work on different aspects of neurogenetic and neuro-ophthalmological disorders. They research on the mitochondrial encephalomyopathies.

Their research embraces a variety of other neurodegenerative diseases, affecting the:

  • brain
  • visual pathways
  • peripheral nerves (cerebellar ataxias, optic neuropathies, spastic paraplegias and peripheral neuropathies)

This comprehensive service also provides patients access to specialised genetic investigations. This includes next-generation exome sequencing, with support from trained genetic counsellors.

We're making great strides in this field of research.

Key researchers

Neurological genetics

Professor Rita Horvath – inherited peripheral neuropathies and mitochondrial genetics
Dr Patrick Yu-Wai-Man – neuro-ophthalmology and genetic eye disorders

Neuromuscular genetics

Professor Kate Bushby – neuromuscular research
Professor Hanns Lochmuller – neuromuscular research
Professor Volker Straub – neuromuscular research