Alan Shiels, Ph.D.
Associate Professor
Ophthalmology and Visual Sciences
Genetics
Molecular Genetics and Genomics Program
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Office Phone: 314-362-1637
Lab Phone: 314-362-1642
Other Phone:
FAX: 314-362-3131
Box: 8096
Lab Address: 625 McMillan Building
Email: shiels@wustl.edu
Website: http://ophthalmology.wustl.edu/
Keywords: genetics; vision; cataract; glaucoma; pathogenesis
Short Research Description: Ophthalmic genetics. |
Research Abstract:
Our research interests focus on the molecular genetic basis of hereditary eye diseases; especially, developmental cataracts (lens opacities), glaucoma (optic neuropathies) and eye movement disorders (involuntary oscillation and misalignment), which are clinically important causes of visual impairment in childhood. Our goals are to map, identify and characterize the underlying genetic defects and our studies involve two complimentary approaches; 1) Mapping and mutation studies: Genome-wide STR and SNP markers are being used to map and refine chromosomal loci for familial cataracts, glaucoma, and nystagmus. Re-sequencing and copy number variant techniques are also being used to identify causative mutations in positional-candidate genes, and to develop diagnostic genetic tests for these disorders. 2) Pathogenetic studies: Currently we are characterizing the ocular pathology and visual dysfunction of mice harboring mutations in genes for an aquaporin water-channel, a chromatin modifying protein, and a novel cytoskeletal protein. |
Selected Publications:
Shiels A, Bennett TM, Knopf HLS, et al. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet 2007 81:596-606.
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 Genet 2003 11:784-793.
Mackay DS, Boskovska OB, Knopf HLS, et al. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet 2002 71:1216-1221.
Mackay D, Ionides A, Kibar Z, et al. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999 64:1357-1364.
Shiels A, Mackay D, Ionides A, et al. 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. |