Ana Terron graduated in Pharmacy from the University of Salamanca, Spain in 1988 and specialized in Clinical Analysis from the University Complutense of Madrid (1992). She worked in Clinical Microbiology and Public Health Services in Spain, before developing an interest in Human Genetics. She came to UK initially to study for an MSc in Experimental and Molecular Pathology (University of Dundee, 1995) and thereafter trained as a Clinical Scientist in Molecular Genetics at Tayside University Hospitals NHS Trust.

Dr Terron joined Epithelial Genetics Group in 1998, working on elucidating the molecular basis of human genetic diseases, particularly with a view of its application in clinical practice and therapeutics. Her PhD research project, entitled “Ribozyme gene therapy approaches for keratin disorders” involved the development of novel RNA-based gene therapy systems for treatment of dominantly inherited genetic disorders, using epidermolysis bullosa simplex as a model system. In addition, she identified mutations in the keratin 1 gene that produce a range of atypical skin disease phenotypes.

Because of her experience and qualifications in molecular genetics, Ana is involved in the diagnostic activity of the laboratory in collaboration with the NHS Molecular Genetics Laboratory.

She is currently funded by the British Skin Foundation and National Eczema Society to work on the role of the filaggrin gene in ichthyosis vulgaris and eczema.

Selected Publications:

1. Terron-Kwiatkowski A et al., (2002) Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol, 119:966-971.

2. Terron-Kwiatkowski A et al., (2004) Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Br J Dermatol, 150:1096-1103

3. Terron-Kwiatkowski A, van Steensel MAM, van Geel M, Lane EB, McLean WHI and Steijlen PM (2006) Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with “tonotubular” keratin. J Invest Dermatol, 126:607-613 [Epub ahead of print, Jan 26].

4. 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].

5. 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].