Dr Wendy Gold

Senior Research Fellow, Children's Hospital, Westmead
Coordinator AMED3888
Coordinator TSP/Dalyell program, Westmead

Telephone +61 2 9845 1446

Website Honours in Medical Sciences at Wesmead

Map

Biographical details

I have been studying the pathogenic mechanisms of Rett syndrome for the past 9 years. As group leader of the Molecular Neurobiology Lab at Kids Research, Westmead Children's Hospital, I conduct a program of interdisciplinary research spanning fields of neurology, neuropathology, fundamental neuroscience, clinical chemistry and pharmacology. My translational research engages clinicians, chemists, fundamental scientists and bioinformaticians.

Research interests

Genetic neurological disorders are challenging to treat, let alone cure due to the complexity of the brain and the barrier imposed by the blood brain barrier. Our lab, in close collaboration with others, are testing novel adeno-associated virus’s (AAV) coupled with CRISPR gene editing tools to create a novel system which has the capacity to permanently correct mutated genes back to wild type in neuronal cells.To test this our lab is developing humanised models using 2D neuronal cultures and 3D brain organoids.

Teaching and supervision

Coordinator AMED3888, Clinical Science.

Current research students

Project title Research student
Using 2D and 3D cultures to model Rett syndrome for gene therapy. Florencia HAASE
Cell and Gene Therapy Strategies for Treatment of Bone Fragility Disorders Lucinda LEE

Current projects

  • Modelling Rett sydnrome using 2D and 3D cultures for gene therapy
  • Exon replacement therapy for Rett syndrome using CRISPR/Cas9 gene editing
  • Modelling Maternal immune activation using immunogens to mimic pathogenic stimuli
  • Modelling Maternal immune activation using cytokines to mimic maternal stimuli

Collaboration with the Translational Vectorology Group at the Childrens Medical Research Institute (CMRI), headed by Dr Leszek Lisowski.

Keywords

Genetics; Neurosciences; Mutation; Stem cells

Clinical Specialty

Paediatrics

Selected publications

Download citations: PDF RTF Endnote

Journals

  • Shahen, V., Cantrill, L., Bahram Sangani, N., Christodoulou, J., Gold, W. (2018). A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells. Acta histochemica, 120(8), 797-805. [More Information]
  • Gold, W., Krishnarajy, R., Ellaway, C., Christodoulou, J. (2018). Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. ACS Chemical Neuroscience, 9(2), 167-176. [More Information]
  • Nafisinia, M., Menezes, M., Gold, W., Riley, L., Hatch, J., Cardinal, J., Coman, D., Christodoulou, J. (2018). Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing. Molecular Genetics and Metabolism, 123(3), 382-387. [More Information]
  • Gold, W., Sobreira, N., Wiame, E., Marbaix, A., Van Schaftingen, E., Franzka, P., Riley, L., Worgan, L., Hubner, C., Christodoulou, J., Ades, L. (2017). A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. American Journal of Medical Genetics, Part A, 173(8), 2246-2250. [More Information]
  • Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, C., Thorburn, D., Simons, C., Christodoulou, J. (2017). Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PloS One, 12(6), 1-12. [More Information]
  • Nafisinia, M., Sobreira, N., Riley, L., Gold, W., Uhlenberg, B., Weib, C., Boehm, C., Prelog, K., Ouvrier, R., Christodoulou, J. (2017). Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 25(10), 1134-1141. [More Information]
  • Nafisinia, M., Guo, Y., Dang, X., Li, J., Chen, Y., Zhang, J., Lake, N., Gold, W., Riley, L., Thornburn, D., Christodoulou, J., et al (2017). Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports, 32, 117-124. [More Information]
  • Alodaib, A., Sobreira, N., Gold, W., Riley, L., Van Bergen, N., Wilson, M., Bennetts, B., Thorburn, D., Boehm, C., Christodoulou, J. (2017). Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. European Journal of Human Genetics, 25(1), 79-84. [More Information]
  • Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li, J., Gold, W., Ades, L., Keating, B., Xu, X., Teo, J., Christodoulou, J., et al (2016). Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clinical Genetics, 89(2), 163-172. [More Information]
  • Gold, W., Lacina, T., Cantrill, L., Christodoulou, J. (2015). MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Journal of Molecular Medicine, 93(1), 63-72. [More Information]
  • Gold, W., Christodoulou, J. (2015). The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome. Frontiers in Cellular Neuroscience, 9, 1-6. [More Information]
  • Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Mitochondrion, 15, 10-17. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]

2018

  • Shahen, V., Cantrill, L., Bahram Sangani, N., Christodoulou, J., Gold, W. (2018). A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells. Acta histochemica, 120(8), 797-805. [More Information]
  • Gold, W., Krishnarajy, R., Ellaway, C., Christodoulou, J. (2018). Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. ACS Chemical Neuroscience, 9(2), 167-176. [More Information]
  • Nafisinia, M., Menezes, M., Gold, W., Riley, L., Hatch, J., Cardinal, J., Coman, D., Christodoulou, J. (2018). Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing. Molecular Genetics and Metabolism, 123(3), 382-387. [More Information]

2017

  • Gold, W., Sobreira, N., Wiame, E., Marbaix, A., Van Schaftingen, E., Franzka, P., Riley, L., Worgan, L., Hubner, C., Christodoulou, J., Ades, L. (2017). A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. American Journal of Medical Genetics, Part A, 173(8), 2246-2250. [More Information]
  • Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, C., Thorburn, D., Simons, C., Christodoulou, J. (2017). Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PloS One, 12(6), 1-12. [More Information]
  • Nafisinia, M., Sobreira, N., Riley, L., Gold, W., Uhlenberg, B., Weib, C., Boehm, C., Prelog, K., Ouvrier, R., Christodoulou, J. (2017). Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 25(10), 1134-1141. [More Information]
  • Nafisinia, M., Guo, Y., Dang, X., Li, J., Chen, Y., Zhang, J., Lake, N., Gold, W., Riley, L., Thornburn, D., Christodoulou, J., et al (2017). Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports, 32, 117-124. [More Information]
  • Alodaib, A., Sobreira, N., Gold, W., Riley, L., Van Bergen, N., Wilson, M., Bennetts, B., Thorburn, D., Boehm, C., Christodoulou, J. (2017). Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. European Journal of Human Genetics, 25(1), 79-84. [More Information]

2016

  • Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li, J., Gold, W., Ades, L., Keating, B., Xu, X., Teo, J., Christodoulou, J., et al (2016). Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clinical Genetics, 89(2), 163-172. [More Information]

2015

  • Gold, W., Lacina, T., Cantrill, L., Christodoulou, J. (2015). MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Journal of Molecular Medicine, 93(1), 63-72. [More Information]
  • Gold, W., Christodoulou, J. (2015). The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome. Frontiers in Cellular Neuroscience, 9, 1-6. [More Information]

2014

  • Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Mitochondrion, 15, 10-17. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]

To update your profile click here. For support on your academic profile contact .