The investigation, diagnosis and treatment of mitochondrial disease in Hong Kong.

Our funding application was made to develop strategic, international relationships with leading Universities in Hong Kong and China (HKU, Chinese University of Hong Kong) around the clinical and basic science research agenda of the WTCMR (understanding the natural history and prevalence or mitochondrial disease; clinical presentations of paediatric and adult mitochondrial disease; developing transitional care pathways and patient management; the laboratory investigation and diagnosis of mitochondrial disease; implementation of next generation sequencing strategies in mitochondrial diagnostics; improving genetic counselling including prenatal and preimplantation genetic diagnosis; the development of mitochondrial replacement therapies) by delivering a 2-day symposium across both campuses and establishing links with local clinicians and researchers in this field.

Longer term, we hope to be able to provide opportunities to train and support research fellows from Hong Kong in Newcastle, as well as provide diagnostic services through our NHS Highly Specialised Commissioned laboratory to support the local clinical team and promote collaborative research around novel mitochondrial genetic diseases/mechanisms. The team visited Hong Kong in November 2015, and whilst progress in some areas has been limited to date, samples have been sent to Newcastle for diagnostic evaluation and discussions are continuing around establishing training opportunities. The local teams have also recently established a network to develop a patient registry within Hong Kong for patients with mitochondrial disease.

Professor Robert Taylor (Institute of Neuroscience)