Faculty > Shiels

Alan Shiels, Ph.D.

Associate Professor, Ophthalmology and Visual Sciences
Associate Professor, Genetics
(314) 362-1637

B.S. Biological Science, University of Manchester, UK (1977); Ph.D. University of London, UK (1983); Fellow, Biochemistry & Molecular Biology, University of Florida (1983-1985); Fellow, Biochemistry, University College, London (1985-1987)

Research Area:

Ocular Genetics

Research Interests:

Our research focuses on the molecular genetic basis of eye diseases including; cataracts, glaucoma and eye movement disorders, utilizing three complimentary approaches.

  1. Mapping studies: Genome-wide markers are being used to map and refine chromosomal loci.
  2. Mutation studies: Re-sequencing techniques are being used to identify causative mutations and to develop diagnostic genetic tests.
  3. Genotype/phenotype studies: E xpression techniques are being used to characterize the underlying pathogenetic mechanisms. Results from these studies will improve understanding of eye development in health versus disease and contribute toward the design of gene-based therapeutics that may help treat or prevent common causes of vision impairment.

Selected Publications:

  1. Mackay DS, Andley UP, Shiels A . Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. Eur J Hum Genet2003; 11:784-793. PMID: 14512969
  2. Mackay DS, Boskovska OB , Knopf HLS, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet 2002; 71:1216-1221. PMID: 12360425
  3. Shiels A, Bassnett S, Varadaraj K, Mathias R, Al-Ghoul K, Kuszak J, Donoviel D, Lillenberg S, Friedrich G, Zambrowicz B. Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice. Physiol Genom 2001; 7:179-186. PMID: 11773604
  4. Mackay D, Ionides A, Kibar Z, Rouleau G, Shiels A, Bhattacharya S. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999; 64:1357-1364. PMID: 10205266
  5. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene ( GJA8) underlies autosomal dominant 'zonular pulverulent' cataract on chromosome 1q. Am J Hum Genet 1998; 62:526-532. PMID: 9497259
  6. Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 1996; 12:212-215. PMID: 8563764


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