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Shomi Bhattacharya

Prof. Shomi Bhattacharya is Professor of Experimental Ophthalmology and the Head of Division of Molecular Genetics, University College London.

Short CV

  • PhD from University of Newcastle Upon Tyne, UK in 1977. Since 1992, Professor of Experimental Ophthalmology and Head of Division of Molecular Genetics, University College London.
  • Scientific coordinator of 3 EU funded projects.
  • Published 2 books, 14 book chapters and over 275 peer-reviewed papers. Obtained grant funding for research in excess of £12M
  • Hold Chair of Excellence at Institut de la Vision, Paris
  • Fellow Academy of Medical Sciences (FMedSci) and Fellow Royal Society of Edinburgh (FRSE)

Scientifc Interest

  • Disease gene mapping and gene identification of inherited eye diseases,
  • Functional characterisation of novel eye related genes and to study the impact of mutations on protein function.
  • To understand the molecular basis of the disease process and develop novel strategies for treatment.

Memberships

  • Association for Research in Vision and Ophthalmology
  • American Society for Human Genetics
Prof. Shomi Bhattacharya
Prof. Shomi Bhattacharya

Research Group

Molecular Genetics Group

UCL-Institute of Ophthalmology

Contact

University College London
Institute of Ophthalmology
Molecular Genetics Group

11-43 Bath Street
EC1V 9EL
London
United Kingdom

smbcssb@ucl.ac.uk

Phone: +44 (207) 6086 826
Fax: +44 (207) 6086 863

Website: http://www.ucl.ac.uk/ioo/

Key Publications

  • Freund, C.L., Gregory-Evans, C.Y., Furukawa, T., Papaioannou, M., Looser, J., Ploder, L., Bellingham, J., Ng, D., Herbrick, J.S., Duncan, A., Scherer, S.W., Tsui, L.,
    Loutradis-Anagnostou, A., Jacobson, S.G., Cepko, C.L., Bhattacharya, S.S. and McInnes, R.R.    Cone-Rod Dystrophy due to mutations in a novel photreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. (1997) Cell. 91: 543-553.
  • Bessant, D.A.R., Payne, A.M., Mitton, K.P., Wang, Q-L., Swain, P.K., Plant, C., Bird, A.C., Zack, D.J., Swaroop, A. and Bhattacharya, S.S.
    Mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (1999) Nat. Genet. 21:  355-356.
  • Berry, V., Francis, P., Kaushal, S., Moore, A. and Bhattacharya, S.
    Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q. (2000) Nat. Genet. 25:  15-17.
  • Ali, R.R., Sarra, G.M., Stephens, C., Alwis, M.D., Bainbridge, J.W., Munro, P.M., Fauser, S., Reichel, M.B., Kinnon, C., Hunt, D.M., Bhattacharya, S.S. and Thrasher, A.J.
    Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. (2000) Nat. Genet. 25:  306-310.
  • Alexander, C., Votruba, M., Pesch, U.E.A., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S. and  Wissinger, B.
    OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy  linked to chromosome 3q28. (2000) Nat. Genet. 26 : 211-215.
  • Vithana, E.N., Abu-Safieh, L., Allen, M.J., Carey, A., Papaioannou, M., Chakarova, C., Al-Maghtheh, m., Ebenezer,N.D., Willis, C., Moore, A.T., Bird, A.C., Hunt, D.M .and Bhattacharya, S.S.
    A human homolog of yeast pre-mrna splicing gene, prp31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (rp11). (2001) Mol. Cell, 8: 375-381.
  • Chakarova, C.F., Hims, M.M., Bolz, H., Abu-Safieh, L., Patel, R.J., Papaioannou, M.G., Inglehearn, C.F., Keen, T.J., Willis, C., Moore, A.T., Rosenberg, T., Webster, A.R., Bird, A.C., Gal, A., Hunt, D., Vithana, E.N. and Bhattacharya, S.S.
    Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. (2002) Hum Mol Genet. 11: 87-92.
  • Comitato, A., Spampanato, C., Chakarova, C., Sanges, D., Bhattacharya, S.S. and Marigo, V.
    Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. (2007). Hum Mol Genet. 16: 1699-1707.
  • Chakarova, C.F., Papaioannou, M.G., Khanna, H., Lopez, I., Waseem, N., Shah, A., Theis, T., Friedman, J., Maubaret, C., Bujakowska, K., Veraitch, B., Abd El-Aziz, M.M., Prescott, de Q., Parapuram, S.K., Bickmore, W.A., Munro, P.M., Gal, A., Hamel, C.P., Marigo, V., Ponting, C.P., Wissinger, B., Zrenner, E., Matter, K., Swaroop, A., Koenekoop, R.K. and Bhattacharya, S.S.
    Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. (2007).  Am J Hum Genet. 81: 1098-1103.
  • Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andreasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A.
    Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. (2006). Am J Hum Genet. 79: 1059-1070.

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