Aileen Sandilands graduated from Aberdeen University in 1992 with a BSc (Hons) degree in Zoology (Cell and Immunobiology). This was followed by a PhD from the Department of Biochemistry at Dundee University in 1996 and subsequent postdoctoral research to investigate the role of the intermediate filament cytoskeleton in maintaining transparency of the eye lens. Dr Sandilands is particularly interested in understanding the mechanisms at the cellular level by which mutations in intermediate filament proteins and associated molecules cause disease and more recently, how to correct these cellular defects and treat genetic disorders.

Aileen joined the Epithelial Genetics Group in 2001 to develop model systems of keratin disorders and is currently funded by a DEBRA Programme Grant to carry out in vivo testing of siRNA-based gene therapy strategies to treat the dominantly inherited skin blistering disorder epidermolysis bullosa simplex.

She has also recently been involved in developing a comprehensive mutation detection strategy for the human filaggrin gene for routine analysis of patients with ichthyosis vulgaris and atopic dermatitis.

Selected publications:

1. Sandilands A et al., (1995) “Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation.” J Cell Sci. 108:1397-406.

2. Sandilands A et al., (2002) “Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.” EMBO J. 21:6005-14.

3. Sandilands A et al., (2003) “Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract.” Exp Eye Res. 76:385-91.

4. Sandilands A et al., (2004) “Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton.” Exp Eye Res. 78:875-89.

5. Smith FJD et al., (2006) “Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.” Nature Genet, 38:337-342 [Epub ahead of print, Jan 29, 2006].

6. Palmer CNA et al., (2006) “Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.” Nature Genet [Epub ahead of print, Mar 19, 2006].