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Queen Square Centre for Neuromuscular Diseases

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Exome sequencing (Mitochondrial disease)

Sponsor Guys and St Thomas
Funder Lily Foundation
CI Dr Charulata Deshpande
Sites Newcastle, London Queen Square
Contact details charu.deshpande@gstt.nhs.uk

Primary objective

To identify nuclear genes causing mitochondrial disorders in young children.

We will use new advanced genetic testing to assess children in whom routine testing has failed to provide a genetic diagnosis.

Gene identification will help us to:

  • develop better tests for the diagnosis of mitochondrial disorders
  • manage the genetic risk within a family.
  • identify interacting proteins that might inform treatment of these conditions.