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Dr Emma Wade

Contact Details

Email
emma.wade@otago.ac.nz

University Links

Position
Research Fellow
Department
Department of Women's and Children's Health (Dunedin)
Qualifications
PhD
Research summary
Clinical 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

Wade, E. M., Goodin, E. A., Wang, Y., Morgan, T., Callon, K. E., Watson, M., Daniel, P. B., … Robertson, S. P. (2023). FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports, 18, 101668. doi: 10.1016/j.bonr.2023.101668

Wade, E. M., Parthasarathy, P., Mi, J., Morgan, T., Wollnik, B., Robertson, S. P., & Cundy, T. (2022). Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia [Brief communication]. European Journal of Human Genetics, 30, 480-484. doi: 10.1038/s41431-021-00902-0

Wade, E. M., Jenkins, Z. A., Morgan, T., Gimenez, G., Gibson, H., Peng, H., … Robertson, S. P. (2021). Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A, 185A, 3675-3682. doi: 10.1002/ajmg.a.62424

Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528

Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w

Wade, E. M., Goodin, E. A., Wang, Y., Morgan, T., Callon, K. E., Watson, M., Daniel, P. B., … Robertson, S. P. (2023). FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports, 18, 101668. doi: 10.1016/j.bonr.2023.101668

Journal - Research Article

Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w

Journal - Research Article

Wade, E. M., Jenkins, Z. A., Morgan, T., Gimenez, G., Gibson, H., Peng, H., … Robertson, S. P. (2021). Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A, 185A, 3675-3682. doi: 10.1002/ajmg.a.62424

Journal - Research Article

Daniel, S., Renwick, M., Chau, V. Q., Datta, S., Maddineni, P., Zode, G., Wade, E. M., Robertson, S. P., … Hulleman, J. D. (2020). Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity. Journal of Molecular Medicine, 98, 1639-1656. doi: 10.1007/s00109-020-01974-z

Journal - Research Article

Micale, L., Morlino, S., Biagini, T., Carbone, A., Fusco, C., Ritelli, M., … Wade, E. M., … Castori, M. (2020). Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy. Biochimica et Biophysica Acta: Molecular Basis of Disease, 1866, 165742. doi: 10.1016/j.bbadis.2020.165742

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, 40, 1886-1898. doi: 10.1002/humu.23834

Journal - Research Article

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

Journal - Research Article

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

Journal - Research Article

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

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

Journal - Research Article

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

Journal - Research Article

Wade, E. M., Parthasarathy, P., Mi, J., Morgan, T., Wollnik, B., Robertson, S. P., & Cundy, T. (2022). Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia [Brief communication]. European Journal of Human Genetics, 30, 480-484. doi: 10.1038/s41431-021-00902-0

Journal - Research Other

Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528

Journal - Research Other

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics, 28, 445-452. doi: 10.1038/s41431-019-0546-7

Journal - Research Other

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11, 1439. doi: 10.3390/genes11121439

Journal - Research Other

Wade, E. M., Halliday, B. J., Jenkins, Z. A., O'Neill, A. C., & Robertson, S. P. (2020). The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Human Mutation, 41, 865-883. doi: 10.1002/humu.24002

Journal - Research Other

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