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★★★★★

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Hire Dr. Donna M.

Profile Summary

I have twenty years of experience in the identification of genes and variants involved in inherited ophthalmic diseases, particularly in cataract and retinal disease. I am well versed in the techniques used to identify disease causing variants and although my focus has been eye disease, my knowledge can be applied to any other genetic disease. As well as the experience I have gained as a bench scientist in an academic setting, my time has also been spent teaching students (both on a 1 to 1 setting and in classrooms), writing grants and manuscripts for publication and editing colleagues thesis and manuscripts. I am also involved in peer review for several journals.

Subject Matter Expertise

• ☆ Microbiology
• ☆ Molecular Biology
• ☆ Genetics
• ☆ Ophthalmology
• ☆ Peer Review
• ☆ Technical & Scientific Writing
• ☆ Manuscript & Journal Article Writing
• ☆ Grant Writing

Services

• Writing
• Consulting
• Data & AI
• Product Development

Work Experience

Clinical Research Supervisor

Washington University in Saint Louis School of Medicine

2015 - Present

Staff Scientist

Washington University in Saint Louis School of Medicine

2012 - 2015

Postdoctoral fellow

University College London Institute of Ophthalmology

February 2007 - August 2011

Post-doctoral fellow

Institute of Ophthalmology, UCL, London, UK

February 2007 - August 2011

Post-doctoral Fellow

Imperial College London, Department of Clinical Neuroscience, Charing Cross Hospital, London, UK

April 2005 - February 2007

Post-doctoral fellow

Imperial College London

April 2005 - January 2007

Account Manager

Bioline Ltd

January 2004 - March 2005

Account Manager

Bioline, UK

January 2004 - March 2005

Research Associate

Washington University School of Medicine, Department of Ophthalmology & Visual Sciences, St Louis, Missouri, USA.

October 1998 - December 2003

Research Associate

Washington University in Saint Louis School of Medicine

October 1998 - December 2003

Education

PhD (Genetics)

UCL Institute of Ophthalmology, University College London

1995 - 1998

Human Genetics (genetics)

University College London

1992 - 1995

Certifications

• Certification details not provided.

Publications

JOURNAL ARTICLE

(2019). Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies . Ophthalmology.

(2016). Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction . JAMA ophthalmology.

(2015). Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma . PloS one.

(2015). Author reply: To PMID 24480711 . Ophthalmology.

Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis, Richard Holt, Suzanne Broadgate, Emanuela V. Volpi, Louise Ocaka, Anthony G. Robson, Graham E. Holder, et al.(2015). Author reply . Ophthalmology. 122. (4). p. e22. Elsevier {BV}

(2014). Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract . Human genomics.

Mackay DS, Bennett TM, Culican SM, Shiels A, Human genomics, 2014, vol. 8, no. 1, pp. 19 .

(2014). Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma . PloS one.

(2014). Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy . Ophthalmology.

Halford, S., Liew, G., MacKay, D.S., Sergouniotis, P.I., Holt, R., Broadgate, S., Volpi, E.V., Ocaka, L., Robson, A.G., Holder, G.E., et al.(2014). Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy . Ophthalmology. 121. (6). p. 1174-1184.

Mackay, D.S., Borman, A.D., Sui, R., van den Born, L.I., Berson, E.L., Ocaka, L.A., Davidson, A.E., Heckenlively, J.R., Branham, K., Ren, H., et al.(2014). Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations. [34, 11, 1537-1546, 10.1002/humu.22398] . Human Mutation. 35. (1). p. 150-150.

Borman, A.D., Pearce, L.R., Mackay, D.S., Nagel-Wolfrum, K., Davidson, A.E., Henderson, R., Garg, S., Waseem, N.H., Webster, A.R., Plagnol, V., et al.(2014). A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity . Human Mutation. 35. (3). p. 289-293.

Bennett, T.M., Mackay, D.S., Siegfried, C.J., Shiels, A.(2014). Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma . PLoS ONE. 9. (8).

(2013). A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity . Human mutation.

Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR, <i>Ophthalmology</i>, 2013 .

Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, Tsunoda K, Tsubota K, Bunce C, Robson AG, Moore AT, Webster AR, Holder GE, Michaelides M, <i>American journal of ophthalmology</i>, 2013, vol. 155, no. 6, pp. 1075-1088.e13 .

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR, <i>Human mutation</i>, 2013, vol. 34, no. 3, pp. 506-514 .

Proukakis C, Dudzik CG, Brier T, MacKay DS, Cooper JM, Millhauser GL, Houlden H, Schapira AH, <i>Neurology</i>, 2013, vol. 80, no. 11, pp. 1062-1064 .

Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT, <i>Investigative ophthalmology & visual science</i>, 2012, vol. 53, no. 7, pp. 3927-3938 .

Mackay, Donna S. and Halford, Stephanie(2012). Focus on Molecules: Cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2) . Experimental Eye Research. 102. p. 111-112. Elsevier

Tan, M.H., Mackay, D.S., Cowing, J., Tran, H.V., Smith, A.J., Wright, G.A., Dev-Borman, A., Henderson, R.H., Moradi, P., Russell-Eggitt, I., et al.(2012). Leber congenital amaurosis associated with AIPL1: Challenges in ascribing disease causation, clinical findings, and implications for gene therapy . PLoS ONE. 7. (3).

Falk, Marni J and Zhang, Qi and Nakamaru-Ogiso, Eiko and Kannabiran, Chitra and Fonseca-Kelly, Zoe and Chakarova, Christina and Audo, Isabelle and Mackay, Donna S and Zeitz, Christina and Borman, Arundhati Dev and et al.(2012). NMNAT1 mutations cause Leber congenital amaurosis . Nature Genetics. 44. (9). p. 1040-1045. Nature Publishing Group

Lescai, Francesco and Bonfiglio, Silvia and Bacchelli, Chiara and Chanudet, Estelle and Waters, Aoife and Sisodiya, Sanjay M. and Kasperavičiūtė, Dalia and Williams, Julie and Harold, Denise and Hardy, John and et al.(2012). Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes . PLoS ONE. 7. (12). p. e51292. Public Library of Science

Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT, <i>The British journal of ophthalmology</i>, 2011, vol. 95, no. 6, pp. 811-817 .

Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT, <i>Experimental eye research</i>, 2011, vol. 92, no. 5, pp. 316-317 .

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT, <i>Investigative ophthalmology & visual science</i>, 2011, vol. 52, no. 6, pp. 3032-3038 .

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR, <i>Investigative ophthalmology & visual science</i>, 2011, vol. 52, no. 3, pp. 1880-1886 .

Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT, <i>Molecular vision</i>, 2011, vol. 17, pp. 2706-2716 .

Sergouniotis, Panagiotis I. and Davidson, Alice E. and Mackay, Donna S. and Lenassi, Eva and Li, Zheng and Robson, Anthony G. and Yang, Xu and Kam, Jaimie Hoh and Isaacs, Timothy W. and Holder, Graham E. and et al.(2011). Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina . The American Journal of Human Genetics. 89. (6). p. 782-791. Elsevier

Sergouniotis, Panagiotis I. and Davidson, Alice E. and Mackay, Donna S. and Li, Zheng and Yang, Xu and Plagnol, Vincent and Moore, Anthony T. and Webster, Andrew R.(2011). Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis . The American Journal of Human Genetics. 89. (1). p. 183-190. Elsevier

Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR, <i>Molecular vision</i>, 2010, vol. 16, pp. 540-548 .

Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR, <i>Molecular vision</i>, 2010, vol. 16, pp. 46-52 .

Mackay, D.S., Henderson, R.H., Sergouniotis, P.I., Li, Z., Moradi, P., Holder, G.E., Waseem, N., Bhattacharya, S.S., Aldahmesh, M.A., Alkuraya, F.S., et al.(2010). Novel mutations in MERTK associated with childhood onset rodcone dystrophy . Molecular Vision. 16. p. 369-377.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR, <i>American journal of human genetics</i>, 2009, vol. 85, no. 5, pp. 711-719 .

Moradi P, Mackay D, Hunt DM, Moore AT, <i>Experimental eye research</i>, 2008, vol. 87, no. 3, pp. 160-161 .

Guerin, K., Gregory-Evans, C.Y., Hodges, M.D., Moosajee, M., Mackay, D.S., Gregory-Evans, K., Flannery, J.G.(2008). Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa . Experimental Eye Research. 87. (3). p. 197-207.

Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K, <i>Human molecular genetics</i>, 2007, vol. 16, no. 20, pp. 2482-2493 .

Shiels A, King JM, Mackay DS, Bassnett S, <i>Investigative ophthalmology & visual science</i>, 2007, vol. 48, no. 2, pp. 500-508 .

Bennett TM, Mackay DS, Knopf HL, Shiels A, <i>Molecular vision</i>, 2004, vol. 10, pp. 376-382 .

Mackay DS, Andley UP, Shiels A, <i>Molecular vision</i>, 2004, vol. 10, pp. 155-162 .

Mackay DS, Andley UP, Shiels A, <i>European journal of human genetics : EJHG</i>, 2003, vol. 11, no. 10, pp. 784-793 .

Maraini G, Hejtmancik JF, Shiels A, Mackay DS, Aldigeri R, Jiao XD, Williams SL, Sperduto RD, Reed G, <i>Molecular vision</i>, 2003, vol. 9, pp. 397-400 .

Mackay, D.S., Boskovska, O.B., Knopf, H.L.S., Lampi, K.J., Shiels, A.(2002). A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q . American Journal of Human Genetics. 71. (5). p. 1216-1221.

Pal, J.D., Liu, X., Mackay, D., Shiels, A., Berthoud, V.M., Beyer, E.C., Ebihara, L.(2000). Connexin46 mutations linked to congenital cataract show loss of gap junction channel function . American Journal of Physiology - Cell Physiology. 279. (3 48-3).

Shiels, A., Mackay, D., Bassnett, S., Al-Ghoul, K., Kuszak, J.E.R.(2000). Disruption of lens fiber cell architecture in mice expressing a chimeric AQP0-LTR protein . FASEB Journal. 14. (14). p. 2207-2212.

Berry, V., Mackay, D., Khaliq, S., Francis, P.J., Hameed, A., Anwar, K., Mehdi, S.Q., Newbold, R.J., Ionides, A., Shiels, A., et al.(1999). Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin . Human Genetics. 105. (1-2). p. 168-170.

Mackay, Donna and Ionides, Alexander and Kibar, Zoha and Rouleau, Guy and Berry, Vanita and Moore, Anthony and Shiels, Alan and Bhattacharya, Shomi(1999). Connexin46 Mutations in Autosomal Dominant Congenital Cataract . The American Journal of Human Genetics. 64. (5). p. 1357-1364. Elsevier

Pal, J.D., Berthoud, V.M., Beyer, E.C., Mackay, D., Shiels, A., Ebihara, L.(1999). Erratum: Molecular mechanism underlying a Cx50-linked congenital cataract (American Journal of Physiology - Cell Physiology (June 1999) 276 (C1443-C1446) . American Journal of Physiology - Cell Physiology. 277. (6 46-6).

Pal, J.D., Berthoud, V.M., Beyer, E.C., Mackay, D., Shiels, A., Ebihara, L.(1999). Erratum: Molecular mechanism underlying a Cx50-linked congenital cataract (American Journal of Physiology-Advances in Physiology Education (June 1, 1999) 276 (C1443-C1446)) . American Journal of Physiology - Advances in Physiology Education. 22. (1).

Ionides, A., Francis, P., Berry, V., Mackay, D., Bhattacharya, S., Shiels, A., Moore, A.T.(1999). Clinical and genetic heterogeneity in autosomal dominant cataract . British Journal of Ophthalmology. 83. (7). p. 802-808.

Pal, J.D., Berthoud, V.M., Beyer, E.G., Mackay, D., Shiels, A., Ebihara, L.(1999). Molecular mechanism underlying a Cx50-linked congenital cataract . American Journal of Physiology - Cell Physiology. 276. (6 45-6).

Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.(1998). A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q . American Journal of Human Genetics. 62. (3). p. 526-532.

Ionides, A., Berry, V., Mackay, D., Shiels, A., Bhattacharya, S., Moore, A.(1998). Anterior polar cataract: Clinical spectrum and genetic linkage in a single family . Eye. 12. (2). p. 224-226.

Shiels, Alan and Mackay, Donna and Ionides, Alexander and Berry, Vanita and Moore, Anthony and Bhattacharya, Shomi(1998). A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q . The American Journal of Human Genetics. 62. (3). p. 526-532. Elsevier

Mackay, D.S., Ionides, A.C.W., Berry, V., Moore, A.T., Bhattacharya, S.S., Shiels, A.(1997). Autosomal dominant 'zonular pulverulent' cataract linked to human chromosome . Investigative Ophthalmology and Visual Science. 38. (4).

Mackay, Donna and Ionides, Alexander and Berry, Vanita and Moore, Anthony and Bhattacharya, Shomi and Shiels, Alan(1997). A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13 . The American Journal of Human Genetics. 60. (6). p. 1474-1478. Elsevier

Ionides, A.C.W., Berry, V., Mackay, D., Shiels, A., Bhattacharya, S.S., Moore, A.T.(1996). Clinical classification of autosomal dominant cataract . Investigative Ophthalmology and Visual Science. 37. (3).