Dr. Shom Shanker Bhattacharya
Chief Scientific Advisor
Dr. Shom Shanker Bhattacharya
Chief Scientific Advisor
3rd Floor, Narayana Nethralaya, Narayana Health City
# 258/A, Bommasandra, Hosur Road,
Bangalore, 560099 INDIA.
01.04.2016 onwards: Principal Investigator and Chief Scientific Advisor, Narayana Nethralaya, Bangalore, India
01.04.2016 onwards: Principal Investigator, Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), Isla Cartuja, Seville, Spain
01.02.2016 onwards: Emeritus Professor of Ophthalmology, University College London, UK
01.08.2008 to 30.03.2016: Director of CABIMER
01.10.1992 to 31.01.2016: Sembal Professor of Experimental Ophthalmology, Head Department of Molecular Genetics, Institute of Ophthalmology, University College London
01.01.2007 to 31.12.11: Chair de Excellence, Institut de la Vision, Pierre et Marie Curie Université, Paris, France
01.02.87 to 30.09.92: Top Grade Scientist (with special responsibilities) and Head of Molecular Genetics Unit, Department of Human Genetics, University of Newcastle upon Tyne
01.06.80 to 31.01.87: Scientific staff and Senior Research Fellow, MRC Human Genetics Unit, Edinburgh and University of Edinburgh
Disease gene mapping and gene identification of inherited eye disease. Functional characterisation of novel eye related genes and study impact of mutations on protein function. To understand the molecular basis of the disease process and develop novel strategies for treatment using gene and cell based approaches. Obtained research funding in excess of £18 million since 1986 from a variety of sources including the Medical Research Council (UK), Wellcome Trust, Foundation Fighting Blindness (USA), RP Fighting Blindness (UK), Fight for Sight, Rosetrees Trust, Special Trustees of Moorfields Eye Hospital and the European Union. Scientific co-ordinator of two research training networks on neurodegeneration involving 10 European laboratories (January 2004 - December 2009) with EU grant funding of €4.9 million. Component leader “Identification of mechanisms of disease” of a €10 Million European Union funded research programme (April 05-March 09) on Functional Genomics of the Retina in Health & Disease.
Major contribution to the field of Ophthalmic Genetics and over the years, successfully identified some 25 novel loci and genes for inherited eye diseases. Notable achievements have been in the identification of genes for retinitis pigmentosa (NRL, PRPF31, TOPORS, EYS), cone (GCAP1) and cone-rod dystrophies (CRX and Ret GC1), cataract (connexins 46 and 50 and MIP), anterior segment dysgenesis & glaucoma (FOXC1) and dominant optic atrophy (OPA1). Functional studies delineating the impact of a number of gene mutations (NRL, PRPF31, GCAP1 and MIP) on protein function have been reported. Established proof of principle of gene based therapy by the rescue of a well-known mouse model (rds mouse, lacks peripherin) of retinal degeneration. Recent demonstration that hypoxia increases the yield of photoreceptor differentiating from mouse embryonic stem cells. This improves the modelling of retinogenesis in vitro.
AWARDS AND HONOURS
Paul Kayser International Award of Merit in Retina Research, Presented at the ICER Meeting, September 1986, Nagoya, Japan
Alcon Research Institute Award for Molecular Genetic Investigations into Inherited Retinal Degenerations, 1991
Elected Fellow of the Academy of Medical Sciences (UK) 2001 - FMedSci
Elected Fellow of the Royal Society of Edinburgh 2006 – FRSE
Awarded Chair of Excellence 2006 France. Full professor appointment held at Pierre et Marie Curie University, Paris from February 2007
Ed Gallob Board of Directors Special Award, Foundation Fighting Blindness (USA), Baltimore, 2016
Supervised 39 Ph.D/MD students since 1986. Examined over 40 Ph.D students from top UK & European Universities including Oxford, Cambridge, London, Edinburgh, Newcastle, Dublin, Ghent, Nijmegen and University of Seville.
Sponsored 9 Senior Research Fellows for MRC, Wellcome Trust and EU funding
14 book chapters & review articles, two books and over 360 peer reviewed articles with the following as a brief selection:
- Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Bhattacharya, S.S., Wright, A.F., Clayton, J.F., Price, W.H., Phillips, C.I., McKeown, C.M.E., Jay, M.R., Bird, A.C., Pearson, P.L., Southern, E.M. and Evans, H.J. (1984): Nature, 309: 253-255
- Better fingerprinting with PCR. Bellamy, R.J., Inglehearn, C.F., Lester, D.H., Hardcastle, A. and Bhattacharya, S.S. (1990). Trends in Genetics. 6: 32.
- Linkage to D3S47 (C17) in one large family and exclusion in another: confirmation of genetic heterogeneity. Lester, D.H., Inglehearn, C.F., Bashir, R., Ackford, H.E., Esakowitz, L., Jay, M.R., Bird, A.C., Wright, A.F. and Bhattacharya, S.S. (1990). Am. J. Hum. Genet. 47: 536-541
- Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Keen, J., Lester, D.H., Inglehearn, C.F., Curtis, A. and Bhattacharya, S.S. (1991). Trends in Genetics. 7: 5.
- Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Wells, J., Wroblewski, J., Keen, T.K., Inglehearn, C.F., Jubb, A., Eckstein, M., Jay, M.R., Arden, G.B., Bhattacharya, S.S., Fitzke, F.W., and Bird, A.C. (1993). Nature Genetics. 3: 213-218.
- A new locus for autosomal dominant Retinitis Pigmentosa (adRP) on chromosome 7p. Inglehearn, C.F, Carter, S.A., Keen, T.J., Lindsey, J., Stephenson, A.M., Bashir, R., Al-Maghtheh, M., Moore, A.T., Jay, M.R., Bird, A.C., and Bhattacharya, S.S. (1993). Nature Genetics. 4: 51-53.
- Genetic linkage of cone-rod dystrophy to chromosome 19q and evidence for segregation distortion. Evans, .E., Fryer, A.F., Inglehearn, C.F., Duvalloung, J., Whittaker, J., Gregory, C.Y., Ebenezer, N., Hunt, D. and Bhattacharya, S.S. (1994). Nature Genetics. 6: 210-213.
- Cone-Rod Dystrophy due to mutations in a novel photreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. 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. (1997) Cell. 91: 543-553.
- Mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 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. (1999) Nat. Genet. 21: 355-356.
- Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q. Berry, V., Francis, P., Kaushal, S., Moore, A. and Bhattacharya, S. (2000) Nat. Genet. 25: 15-17.
- Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. 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. (2000) Nat. Genet. 25: 306-310.
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. 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. (2000) Nat. Genet. 26: 211-215.
- A human homolog of yeast pre-mrna splicing gene, prp31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (rp11). 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. (2001) Mol. Cell, 8: 375-381.
- Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy. Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Brotati Veraitch, Mai M. Abd El-Aziz, Prescott Q,Parapuram S, Bickmore WA, Munro PMG, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E Matter K, Swaroop A, Koenekoop RK and Bhattacharya SS. (2007) Am J Hum Genet. 81: 1098-1103.
- EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Abd El-Aziz MM, Barragan I, O’Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham M, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, and Antinolo G. (2008) Nat Genet. 40: 1285-1287.
- Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS. (2010) Nat Rev Genet. 11: 273-284.
- TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, Swaroop A, Bhattacharya SS. (2011) Hum Mol Genet. 20: 975-87.
- Control of neuronal differentiation by sumoylation of BRAF35, a subunit of the LSD1-CoREST histone demethylase complex. Ceballos-Chávez M, Rivero S, Garcia-Gutierrez P, Rodríguez-Paredes M, Garcia-Dominguez M, Bhattacharya SS, Reyes JC. (2012) Proc Natl Acad Sci. USA. 109: 8085-90.
- Expression of PRPF31 and TFPT: regulation in health and retinal disease. Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. (2012) Hum Mol Genet. 21: 4126-4137.
- Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modelling of retinogenesis in vitro. Garita-Hernandez M, Diaz-Corrales F, Lukovic D, Gonzalez-Guede I, Diez-Lloret A, Valdés-Sánchez ML, Massalini S, Erceg S, Bhattacharya SS. (2013) Stem Cells. 31: 966-978.
- ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Valdes-Sanchez L, De la Cerda B, Diaz-Corrales FJ, Massalini S, Chakarova CF, Wright AF, Bhattacharya SS. (2013) Hum Mol Genet. 22: 1507-1515.
- Cleavage of Mer tyrosine kinase (MerTK) from the cell surface contributes to the regulation of retinal phagocytosis. Law AL, Parinot C, Chatagnon J, Gravez B, Sahel JA, Bhattacharya SS, Nandrot EF. (2015). J Biol Chem. 290(8): 4941-4952.
- Human iPSC derived disease model of MERTK-associated retinitis pigmentosa. Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, Diez Lloret A, Perez Espejo R, Kamenarova K, Fernandez Sanchez L, Cuenca N, Corton M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS. (2015). Sci Rep. 5:12910.
- Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa. Rose AM, Shah AZ, Venturini G, Krishna A, Chakravarti A, Rivolta C, Bhattacharya SS. (2016). Sci Rep. 6:19450.
- Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa. Pensado A, Diaz-Corrales FJ, De la Cerda B, Valdes-Sanchez L, Del Boz AA, Rodriguez-Martinez D, Garcia-Delgado AB, Seijo B, Bhattacharya SS, Sanchez A. Nanomedicine. 2016 Jul 2. [Epub ahead of print] PMID: 27381066