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Contact Details

Email
emma.wade@otago.ac.nz
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., Morgan, T., Gimenez, G., Jenkins, Z. A., Titheradge, H., O'Donnell, M., … Robertson, S. P. (2024). Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival. American Journal of Medical Genetics Part A. Advance online publication. doi: 10.1002/ajmg.a.63779 Journal - Research Article

Wade, E., & Oliver, R. (2023, November). Teacher development. Workshop presentation at the Genetics Otago (GO) Annual Symposium & Workshops, Dunedin, New Zealand. Conference Contribution - Verbal presentation and other Conference outputs

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

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

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

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