Faculty of Health and Medical Sciences

Retinal Genomics and Therapy Laboratory


Dr. Livia S Carvalho

Retinal Genomics and Therapy Laboratory
Lions Eye Institute, Harry Perkins Institute of Medical Research
[email protected]

Confocal images of mouse retinal section after subretinal injections with AAV.CMV.GFP (green). (A) Labelled with markers for cone photoreceptors (red) and cell bodies (blue). (B) Labelled with markers for Muller glial cells (red) and cell bodies (blue)

Area of Expertise

My research interests have always been in the field of vision science. My PhD research (University College London, UK) focused on investigating the underlying molecular mechanisms of evolution and spectral tuning of vertebrate short-wavelength cone visual pigments. This work led to the identification of the molecular mechanisms underlying the evolution of ultraviolet color vision in several groups of vertebrates including sharks, birds, rodents, marsupials and primates. During my postdoctoral training at UCL and at Harvard Medical School, I changed the direction of my research within the visual field from basic science to translational research and my focus and research interests have stayed in this area since. I have worked on developing and investigating gene therapy treatments for severe inherited retinal dystrophies along studies into understanding the cellular and molecular mechanisms behind photoreceptor degeneration, age-related macular degeneration, uveitis, stem cells and AAV biology. The current research in my lab is now focused on creating research platforms in the area of retinal degeneration, gene therapy and cell death mechanisms.

Top 5 Recent Publications

  1. Wassmer S, Carvalho L, György B, Vandenberghe LH, Maguire, CA. (2017) Exosome-associated AAV2 vector mediates robust gene delivery into the murine retina upon intravitreal injection. Scientific Reports Mar 31;7:45329. doi: 10.1038/srep45329.
  2. Hunt DM and Carvalho LS. (2016). The Genetics of Color Vision and Congenital Color Deficiencies. In Human Color Vision, eds. J. Kremers R. C. Baraas and N. J. Marshall, pp. 1-32. Zurich, Switzerland: Springer International Publishing.
  3. Zinn E, Pacouret S, Khaychuk V, Turunen HT, Carvalho LS, Andres-Mateos E, Shah S, Shelke R, Maurer AC, Plovie E, Xiao R, Vandenberghe LH. (2015) In Silico Reconstruction of the Viral Evolutionary Lineage Yields a Potent Gene Therapy Vector. Cell Rep. 12(6):1056-68. doi: 10.1016/j.celrep.2015.07.019.
  4. Carvalho LS, Vandenberghe LH. (2015) Promising and delivering gene therapies for vision loss. Vision Res. 111(Pt B):124-33. doi: 10.1016/j.visres.2014.07.013.
  5. Nishiguchi KM*, Carvalho LS*, Rizzi M, Powell K, Holthaus SM, Azam SA, Duran Y, Ribeiro J, Luhmann UF, Bainbridge JW, Smith AJ, Ali RR. (2015) Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179. Nat Commun. 6:6006. doi: 10.1038/ncomms7006. * joint authors

Recent Grant Successes

  1. 2017 - Voltage-gated potassium channels in inherited retinal dystrophy:  disease mechanisms and treatment strategies. Department of Health WA Merit Awards - CIA Carvalho (AUD$20,000)
  2. 2017-2020 - Self-destructing CRISPR-constructs for targeted genome editing in the retina. NHMRC Project Grant - CIC Carvalho (AUD$679,926)
  3. 2017 - Evaluating cone-specific neuroprotective approaches. UWA Research Collaborative Award - CIA Carvalho (AUD$29,000)
  4. 2016 - Cone photoreceptor development and cell death mechanisms during retinal degeneration in mouse models of Achromatopsia. Retina Australia Research Grant – CIA Carvalho (AUD$40,000)
  5. 2014-2017 - Cone photoreceptor migration and cell death mechanisms during retinal degeneration. ARC Discovery Early Career Research Awards - CI Carvalho (AUD$394,291)
  6. Platform Technology Development for Gene Therapy Strategies in AMD. AMD Center of Excellence Fellowship HMS Department of Ophthalmology – CI Carvalho (US$60,000)


Confocal image of mouse retinal flatmount of an eye injected subretinally with AAV.CMV.GFP (green), labelled with markers for cone photoreceptors (red), cell bodies (blue)


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