Alan Shiels

Professor of Ophthalmology and Visual Sciences, Professor of Genetics

    • 3802 Citations
    1978 …2020

    Research output per year

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    Research interests

    Research in our lab aims to identify and characterize molecular genetic mechanisms that lead to cataract – a clinically important cause of visual impairment affecting the ocular lens. Typically, cataract is progressively acquired with aging (>40 years) as a complex trait with high heritability involving poorly understood gene-gene and gene-environment interactions. However, many genetic forms of cataract are known that present at an early age (birth-40 years) with or without systemic abnormalities and/or other ocular disorders. In particular, cataract may be inherited with abnormalities of anterior eye structures (cornea, iris, ciliary body and irridocorneal-angle drainage system) greatly increasing the risk for developing glaucoma – a blinding disease that progressively destroys the optic nerve. By studying genetic forms of cataract we hope to gain new insights about lens and anterior eye development, and to discover candidate genes for age-related cataract. So far we have identified mutations in 11 genes for inherited cataract; one of which is also associated with age-related cataract, and one with glaucoma. Currently we have ongoing research projects in two complementary areas: (1) Gene discovery: Genetic linkage analysis and targeted (exome) next-generation sequencing techniques are being used to (a) map and identify genes for inherited cataract, (b) develop diagnostic genetic tests for cataract and associated eye disorders, (c) identify risk variants in candidate genes for age-related cataract, and (d) identify the underlying gene in a mouse model of human age-related cataract. (2) Functional expression studies: Gene-targeted mice are being used to model the roles of (a) receptor tyrosine kinase signaling in lens development and aging, (b) a novel cation channel in lens and anterior eye development, (c) a multi-vesicular endosome protein in lens development, and (d) ER-stress and apoptosis in cataract development.

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    Research Output

    TRPM3_miR-204: A complex locus for eye development and disease

    Shiels, A., Feb 18 2020, In : Human genomics. 14, 1, 7.

    Research output: Contribution to journalReview article

    Open Access
  • 1 Scopus citations

    A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation

    Zhou, Y., Bennett, T. M. & Shiels, A., Sep 1 2019, In : Differentiation. 109, p. 16-27 12 p.

    Research output: Contribution to journalArticle

  • Biology of Inherited Cataracts and Opportunities for Treatment

    Shiels, A. & Hejtmancik, J. F., Sep 15 2019, In : Annual Review of Vision Science. 5, p. 123-149 27 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Epha2 and Efna5 participate in lens cell pattern-formation

    Zhou, Y. & Shiels, A., Jul 1 2018, In : Differentiation. 102, p. 1-9 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations

    Germ-line and somatic EPHA2 coding variants in lens aging and cataract

    Bennett, T. M., M’Hamdi, O., Hejtmancik, J. F. & Shiels, A., Dec 2017, In : PloS one. 12, 12, e0189881.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations