Ocular Genetics

Research Overview

Research in the Ocular Genetics lab focuses on using a range of cutting edge genetic techniques combined with informatics to identify gene and environmental determinants of common complex eye diseases. A particular focus is made on age related macular degeneration (AMD), myopia and keratoconus. Current projects involve the use of genome wide association, whole exome sequencing, methylation, copy number studies and gene-gene interaction studies with the aim of personalising patient care. Prof Baird is a member of the Consortium for Refractive Error and Myopia (CREAM) and the International AMD Genomics Consortium (IAMDGC) and is currently collaborating with a number of national and international groups using large population and data resources to unlock the causes of these eye diseases.

Current projects in AMD  include investigating the role of gene-gene interactions using high throughput computational analysis across the genome; pharmacogenetic studies of anti-vascular endothelial growth factors; risk prediction models identifying individuals at early disease stage and the role of the immune system in disease pathogenesis.

In the case of keratoconus, the Australian Study of Keratoconus has been established to better understand the role of genetic and environmental risk factors through the recruitment of 375 keratoconus patients. Studies include establishing a number of genetic associations with keratoconus, the role of asthma in increasing severity of this disease; the use of imaging and risk factor profile in identifying progression of disease as well as  an analysis of its economic burden.

In myopia, genetic association studies of refractive error as well as endophenotypes are being undertaken with national and international partners as well as the role that copy number plays. Additionally, gene-environmental interactions are being assessed in both adults and children to better understand the role of different risk factors in this rapidly increasing problem around the world.


Dr Srujana Sahebajda , Post Doc

Ms Andrea Richardson, RA,

Ms Nicole Tindell, database manager

Mr Netrajeith Srinivasulu, PhD Student

Mr Moeen Riaz, PhD Student

Ms Vindhya Shatdarsana, PhD Student

Ms Ke Cao, Masters (Bioinformatics Student)


Executive Committee of the International AMD Gene Consortium

International Consortium of Refractive Error and Myopia (CREAM)

Prof B Weber, University of Regensburg, Germany

Dr Robert Finger, University of Bonn, Germany

Dr M DeAngelis, University of Utah, USA

Prof C Pang, CUHK, Hong Kong

Dr CC Khor, Genome Institute of Singapore

Dr M Miyake, Kyoto University, Japan

A/Prof Burdon, University of Tasmania

A/Prof S MacGregor, QIMR, Queensland

Prof K Rose, University of Sydney

Prof I Morgan, ANU, Canberra

Prof P Mitchell, Westmead, University of Sydney

Dr S MacFadden, University of Newcastle, NSW

Prof E Fletcher (Anatomy and Neuroscience)

Prof J Wiley (Neuroscience)

Dr A Lonie, Victorian Life Science Computation Initiative

Prof D English, and Prof J Hopper, School of Population Health

Prof G Giles, Cancer Council of Victoria

Dr A Kowalczyk, Centre for Neural Engineering

Dr D Ferrari, Maths and Statistics


NHMRC Senior Research Fellowship Level B APP1028444. Baird. Translation of genetic findings into improved health outcomes for common eye diseases in our society

NHMRC project grant 1048082. Gu, Wiley, Baird. P2X7 mediated phagocytosis of apoptotic cells: a common mechanism underlies neurological and eye disorders

Macular Disease Foundation (Australia). Fletcher, Baird, Guymer, Wiley, Gu, Vessey

Purinergic receptors and early AMD: a novel mechanism and biomarker

Novartis Australia. Baird, Guymer. Genotyping Fluid and H2 Lucentis treatment Study

NHMRC project grant 1084081. Luu, Guymer, Baird. Novel functional imaging for age-related macular degeneration

NHMRC project grant 1104700. Burdon, Charlesworth, Baird, Mills, Sharma. Gene identification in Keratoconus – a blinding eye disease

BrightFocus. Baird, Kowalczyk. Identifying gene pathways that delineate the two late stage types of disease in age-related macular degeneration

NHMRC project grant 1034329. Rose, Baird, Morgan. Gene-environment interactions in the aetiology of myopia

Research Opportunities

This research project is available to PhD students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Publications

1.Gu BJ*, BAIRD PN*, Vessey KA, Skarratt KK, Fletcher EL, Fuller SJ, Richardson AJ, Guymer RH, Wiley JS. (2013). A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age related macular degeneration. FASEB J. Apr;27(4):1479-87. Epub 2013 Jan 9.

*Joint first author

2.Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng C-Y, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, St. Pourcain B, Simpson CL, Mäkelä K-M, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC , Tai E-S, Aung T, Vithana E, Tay W-T, Barathi VA, the CREAM Consortium, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, the DCCT/EDIC Research Group, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Wellcome Trust Case Control Consortium 2, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Igo Jr  RP, Lass JH, Chew E, Iyengar SK, the Fuchs’ Genetics Multi-Center Study Group, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, Teo Y-Y, Rahi JS, Vitart V, Williams C, BAIRD PN, Wong T-Y, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw S-M, Wilson JEB, Stambolian D, Klaver CC, Hammond CJ. (2013). Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.

3.The AMD Gene Consortium. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GHS, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain M, Campochiaro PA, Chan C-C, Cheng C-Y, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley, YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness, J, Ferreyra HA, Friednman JS, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding S, Haritoglou C, Heckenlively JR, Holz, FG, Hughs G, Ioannidis JPA, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, Keilhauer CN, Khan JC, Kim IK, Kiyohara Y, Klein EK, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman M, Pappas C, Park K-H, Pauer GJT, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp, R, Rudolph G, Ryu E, Sahel J-A, Schaumberg DA, Scholl HPN, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefasson H, Sturgill –Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann E, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang L, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R*, BAIRD PN*, Gorin MB*, Wang JJ*, Klaver CCW*, Seddon JM*, Pericak-Vance MA*, Iyengar SK*, Yates JRW*, Swaroop A*, Weber BHF*, Kubo M*, DeAngelis MM*, Léveillard T*, Thorsteinsdottir U*, Haines JL*, Farrer LA*, Heid IM*, Abecasis GR*. (2013). Seven New Loci Associated with Age-Related Macular Degeneration. Nat Genet. Apr;45(4):433-9. doi: 10.1038/ng.2578. Epub 2013 Mar 3 (accepted 11th Feb 2013).

*Joint last author

4.Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, BAIRD PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. (2013). Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. Nov;45(11):1375-9. doi: 10.1038/ng.2758. Epub 2013 Sep 15.

5.Cheng CY*, Schache M*, Ikram MK*, Young TL*, Guggenheim JA*, Vitart V*, MacGregor S*, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D*, Mackey DA*, Klaver CC*, Wong TY*, Saw SM*!, BAIRD PN*! (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet. Aug 8;93(2):264-77.

Joint first/senior authors.  ! corresponding author

6.Miyake M, Yamashiro K, Tabara Y, Suda K, Morooka S, Nakanishi H, Khor CC, Chen P, Qiao F, Nakata I, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, the Nagahama Study Group, Meguro A, Kusuhara S, Polasek O, Hayward C, Wright AF, Campbell H, Richardson AJ, Schache M, Takeuchi  M, Mackey DA, Hewitt A, Cuellar G, Shi Y, Huang L, Yang Z, Leung KH, Kao PYP, Yap MKH, Yip SP, Moriyama M, Ohno-Matsui  K, Mizuki N, MacGregor S, Vitart V, Aung T, Saw S-M, Tai E-S, Wong TY, Cheng C-Y, BAIRD PN, Yamada R, Matsuda F, and Yoshimura N. (2015). Identification of the WNT7B gene provides insights into the mechanism underlying myopia development. Nat Commun. Mar 31;6:6689.

7.Fritsche LG, Igl W, Cooke Bailey JN, Grassmam F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D , Souied E, Scholl HPN, Bala E, Lee KE, Hunter D, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YTE, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GHS, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA , Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M , Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA , Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel J-A , Audo I, Benchaboune M, Cree A, Rennie C, Goverdhan S, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze J-F, Igo Jr RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Theodore Smith R, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley Jr MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NTM, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, the GIANT consortium, the CKDGen consortium, Klaver CCW, Hayward C, Gorin MB, Klein ML, BAIRD PN, den Hollander AI, Fauser S, Yates JRW, Allikmets R, Wang JJ, Schaumberg DA, Klein BEK, Hagstrom SA, Chowers I, Lotery A, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BHF, Abecasis GR, Heid IM. (2016). Insights on Rare Genetic Variation from a Large Study of Age-Related Macular Degeneration. Nat Genet. 48(2):134-43.

8.Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia (CREAM), Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 7:11008.

Research Projects

This Research Group doesn't currently have any projects

Faculty Research Themes


School Research Themes

Neuroscience & Psychiatry

Key Contact

For further information about this research, please contact Professor Paul N Baird

Department / Centre


Unit / Centre

Ocular Genetics