Dr Ryan Davis

Research Fellow (NSW Health Early Career Fellow)

Telephone +61 2 9926 4868

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Biographical details

Improving the diagnosis of inherited mitochondrial diseases

My work is focused on developing new diagnostic tools for mitochondrial diseases; a diverse group of disorders impairing mitochondrial function with the potential to affect any cell (and therefore tissue) in the body, at any age and with varying degrees of morbidity.

Currently, there are no reliable frontline diagnostic indicators of mitochondrial diseases and patients often undergo prolonged diagnostic odysseys without a guarantee of a diagnosis. Improving diagnosis would enable provision of disease appropriate care, aid the development of therapeutics, provide eligibility for clinical trials, justify reproductive options and afford better quality of life.

Through the recent award of a highly competitive NSW Health Early Career Fellowship, I am developing new diagnostic approaches, such as metabolic phenotyping and whole genome sequencing. The overall aim of this work is to translate research findings into clinical diagnostic paradigm shifts to improve diagnosis, management and treatment for patients with debilitating and life-threatening mitochondrial diseases.

Awards and honours

Australian Mitochondrial Disease Foundation Award for Excellence in Mitochondrial Research (September 2016).

NSW Ministry of Health, Office of Health and Medical Research, Postdoctoral Award for Excellence in Medical Research (June 2016).

Selected grants

2017

  • Improving Mitochondrial Disease diagnosis; Davis R; NSW Health/Early Mid Career Fellowship.

2014

  • FGF-21 in mitochondrial disease diagnosis and pathophysiology; Davis R; Australian Mitochondrial Disease Foundation/Incubator Grant.

2012

  • Mitochondrial quality control in mitochondrial disease; Davis R; National Health and Medical Research Council (NHMRC)/Early Career Fellowships.

Selected publications

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Journals

  • Davis, R., Liang, C., Sue, C. (2016). A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases. Neurology, 86(21), 2010-2015. [More Information]
  • Park, J., Koentjoro, B., Davis, R., Sue, C. (2016). Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. Parkinsonism and Related Disorders, 27, 67-73. [More Information]
  • Ghaoui, R., Palmio, J., Brewer, J., Lek, M., Needham, M., Evilä, A., Hackman, P., Jonson, P., Penttilä, S., Vihola, A., Davis, R., Waddell, L., Kaur, S., Yiannikas, K., Clarke, N., Sue, C., et al (2016). Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology, 86(4), 391-398. [More Information]
  • Ahmad, K., Davis, R., Sue, C. (2015). A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family. Australian Family Physician, 262(10), 2323-2328. [More Information]
  • Diot, A., Hinks-Roberts, A., Lodge, T., Liao, C., Dombi, E., Morten, K., Brady, S., Fratter, C., Carver, J., Muir, R., Davis, R., Sue, C., et al (2015). A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA. Pharmacological Research, 100, 24-35. [More Information]
  • Riley, L., Rudinger-Thirion, J., Schmitz-Abe, K., Thorburn, D., Davis, R., Teo, J., Arbuckle, S., Cooper, S., Campagna, D., Frugier, M., Sue, C., Christodoulou, J., et al (2015). LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Reports, 28, 49-57. [More Information]
  • Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]
  • Kabunga, P., Lau, A., Phan, K., Puranik, R., Liang, C., Davis, R., Sue, C., Sy, R. (2015). Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. International Journal of Cardiology, 181, 303-310. [More Information]
  • Davis, R., Liang, C., Edema-Hildebrand, F., Riley, C., Needham, M., Sue, C. (2013). Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease. Neurology, 81(21), 1819-1826. [More Information]
  • Woodbridge, P., Liang, C., Davis, R., Vandebona, H., Sue, C. (2013). POLG mutations in Australian patients with mitochondrial disease. Internal Medicine Journal, 43(2), 150-156. [More Information]
  • Davis, R., Sue, C. (2011). The genetics of mitochondrial disease. Seminars in Neurology, 31(5), 519-530. [More Information]

2016

  • Davis, R., Liang, C., Sue, C. (2016). A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases. Neurology, 86(21), 2010-2015. [More Information]
  • Park, J., Koentjoro, B., Davis, R., Sue, C. (2016). Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. Parkinsonism and Related Disorders, 27, 67-73. [More Information]
  • Ghaoui, R., Palmio, J., Brewer, J., Lek, M., Needham, M., Evilä, A., Hackman, P., Jonson, P., Penttilä, S., Vihola, A., Davis, R., Waddell, L., Kaur, S., Yiannikas, K., Clarke, N., Sue, C., et al (2016). Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology, 86(4), 391-398. [More Information]

2015

  • Ahmad, K., Davis, R., Sue, C. (2015). A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family. Australian Family Physician, 262(10), 2323-2328. [More Information]
  • Diot, A., Hinks-Roberts, A., Lodge, T., Liao, C., Dombi, E., Morten, K., Brady, S., Fratter, C., Carver, J., Muir, R., Davis, R., Sue, C., et al (2015). A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA. Pharmacological Research, 100, 24-35. [More Information]
  • Riley, L., Rudinger-Thirion, J., Schmitz-Abe, K., Thorburn, D., Davis, R., Teo, J., Arbuckle, S., Cooper, S., Campagna, D., Frugier, M., Sue, C., Christodoulou, J., et al (2015). LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Reports, 28, 49-57. [More Information]
  • Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]
  • Kabunga, P., Lau, A., Phan, K., Puranik, R., Liang, C., Davis, R., Sue, C., Sy, R. (2015). Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. International Journal of Cardiology, 181, 303-310. [More Information]

2013

  • Davis, R., Liang, C., Edema-Hildebrand, F., Riley, C., Needham, M., Sue, C. (2013). Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease. Neurology, 81(21), 1819-1826. [More Information]
  • Woodbridge, P., Liang, C., Davis, R., Vandebona, H., Sue, C. (2013). POLG mutations in Australian patients with mitochondrial disease. Internal Medicine Journal, 43(2), 150-156. [More Information]

2011

  • Davis, R., Sue, C. (2011). The genetics of mitochondrial disease. Seminars in Neurology, 31(5), 519-530. [More Information]

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