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Otago Medical School staff profiles

Dr Emma Wade

PositionPostdoctoral Fellow
DepartmentDepartment of Women's and Children's Health (Dunedin)
QualificationsPhD
Research summaryClinical Genetics

Research

Emma is working in Professor Stephen Robertson’s Clinical Genetics Laboratory as a postdoctoral fellow. The aim of her PhD project was to discover the genetic mechanism behind a very rare genetic condition called Frontometaphyseal Dysplasia (FMD).

Patients with FMD have dense, sclerotic bones. It is thought that their genetic mutations disrupt their ability to sense mechanical forces in their skeletons leading to an accumulation of bone. A subset of FMD patients have mutations in the cytoskeletal protein filamin A; through the use of cellular and animal models, Emma hopes to find the role of filamin A in skeletal mechanosensing.

For the remainder of FMD patients, the genetic causes for their condition are unsolved. Emma is using exome sequencing to discover the causative variants in these patients and plans to characterise the function of these variants in bone development. This work will highlight cellular cues which govern how the skeleton adapts to daily life, meaning it could have important implications for the treatment of complex skeletal disease such as osteoporosis.

Publications

Morlino, S., Carbone, A., Ritelli, M., Fusco, C., Giambra, V., Nardella, G., … Wade, E. M., … Micale, L. (2019). TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Human Mutation. Advance online publication. doi: 10.1002/humu.23834

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P. A., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2019). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-019-0546-7

Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Adés, L. C., … Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics Part A, 173(7), 1739-1749. doi: 10.1002/ajmg.a.38267

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Basart, H., van de Kar, A., Adès, L., Cho, T.-J., Carter, E., Maas, S. M., … Wade, E. M., Robertson, S. P., & Hennekam, R. C. (2015). Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics Part A, 167A, 1215-1222. doi: 10.1002/ajmg.a.37044

Journal - Research Article

Morlino, S., Carbone, A., Ritelli, M., Fusco, C., Giambra, V., Nardella, G., … Wade, E. M., … Micale, L. (2019). TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Human Mutation. Advance online publication. doi: 10.1002/humu.23834

Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Adés, L. C., … Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics Part A, 173(7), 1739-1749. doi: 10.1002/ajmg.a.38267

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Basart, H., van de Kar, A., Adès, L., Cho, T.-J., Carter, E., Maas, S. M., … Wade, E. M., Robertson, S. P., & Hennekam, R. C. (2015). Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics Part A, 167A, 1215-1222. doi: 10.1002/ajmg.a.37044

Meyers, J. R., Planamento, J., Ebrom, P., Krulewitz, N., Wade, E., & Pownall, M. E. (2013). Sulf1 modulates BMP signaling and is required for somite morphogenesis and development of the horizontal myoseptum. Developmental Biology, 378(2), 107-121. doi: 10.1016/j.ydbio.2013.04.002

Porter, L. F., Urquhart, J. E., O'Donoghue, E., Spencer, A. F., Wade, E. M., Manson, F. D. C., & Black, G. C. M. (2011). Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. Investigative Ophthalmology & Visual Science, 52(11), 7859-7865. doi: 10.1167/iovs.10-6581

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Journal - Research Other

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P. A., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2019). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-019-0546-7

More publications...