Translation of Genetic Eye Research Integrating Education, Counselling & Testing with Gene Discovery & Gene Based Therapies for Eye Disease

Mackey, David (Investigator 01)
Hewitt, Alex (Investigator 02)
Burdon, Kathryn (Investigator 03)
Craig, Jamie (Investigator 04)

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Status	Finished
Effective start/end date	1/01/12 → 31/12/16

Funding

NHMRC National Health and Medical Research Council : A$2,499,889.00

Access Project

http://purl.org/au-research/grants/nhmrc/1023911

19 Article

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Mackey, D. A., Ong, J. S., MacGregor, S., Whiteman, D. C., Craig, J. E., Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Howell, N. & Hewitt, A. W., 5 Jan 2023, In: American Journal of Human Genetics. 110, 1, p. 170-176 7 p.
Research output: Contribution to journal › Article › peer-review

Open Access
15 Citations (Scopus)
Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?
Ingold, N., Campos, A. I., Han, X., Ong, J. S., Gharahkhani, P., Mackey, D. A., Rentería, M. E., Law, M. H. & MacGregor, S., 3 Jan 2022, In: Investigative ophthalmology & visual science. 63, 1, 7 p., 25.
Research output: Contribution to journal › Article › peer-review

Open Access
6 Citations (Scopus)
Establishing risk of vision loss in Leber hereditary optic neuropathy
Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N. & Mackey, D. A., 4 Nov 2021, In: American Journal of Human Genetics. 108, 11, p. 2159-2170 12 p.
Research output: Contribution to journal › Article › peer-review

Open Access
40 Citations (Scopus)