Christina Chakarova, PhD

Before joining Symmetron in 2022, Christina worked for many years as a Senior Research Scientist at the Institute of Ophthalmology, University College London (UCL).

Her research in molecular genetics led to the discovery of many novel genes associated with retinal degeneration. Her scientific work comprised designing, monitoring and executing projects end to end. She was part of a global scientific community, working in multidisciplinary teams involving one of the best scientists and clinicians in ophthalmology. Her work led to improved diagnostics, prognosis and contributed to the development of advanced therapies for retinal diseases.

Christina has a Master’s degree in Molecular Biology from Sofia University, Bulgaria and obtained her Ph.D. degree in Human Genetics from Greifswald University, Germany. She also has a Master’s degree in Economics and International Management from UNWE, Sofia and is certified in AgilePM.

She has published 45 peer-reviewed research papers in high-impact journals.

Selected publications 

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Human Molecular Genetics (2002) Jan 1;11(1):87-92.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. American Journal of Human Genetics (2007) Nov;81(5):1098-103.

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 ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nature Genetics (2008) Nov;40(11):1285-7.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics (2009) Jun;41(6):739-45.

A.F. Wright, C.F. Chakarova, M.M. Abd El-Aziz and S.S. Bhattacharya. Photoreceptor degeneration – genetic and mechanistic dissection of a complex trait. Nature Review Genetics (2010) 11:273-284.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. NMNAT1 mutations cause Leber congenital amaurosis. Nature Genetics (2012) Sep;44(9):1040-5.

Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. American Journal of Human Genetics (2014) May 1;94(5):760-9.

Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, et al. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human Molecular Genetics (2014) Nov 1;23(21):5827-37.

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Human Molecular Genetics (2016) Jun 15;25(12):2483-2497.

Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.American Journal of Human Genetics (2016) Dec 1;99(6):1305-1315.

Selected international presentations

Splicing defects – a new cause of rod cell death in Retinitis Pigmentosa? The Second Meeting of The European Union RetNet Training Programme (Brussels, Belgium, 2002).

RP31 gene mutations in retinal degeneration patients associated with perivascular RPE atrophy. World Ophthalmology Congress (Hong Kong, 2006).

Invited on Chinese Governmental Programme for Fight for sight as a speaker of workshops in main university centres and hospitals (Peking, Shanghai, Shantou, China; August – September 2006).

Identification of the RP31 gene, mutated in retinal degeneration patients associated with perivascular RPE atrophy. The Association for Research in Vision and Ophthalmology meeting (ARVO) (Fort Lauderdale, USA, 2007).

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy. American Society of Human Genetics meeting (ASHG) (San Diego, USA, 2007).

TOPORS and adRP: Novel function in photoreceptor cells. World Ophthalmology Congress (Hong Kong, July 2008).

Invited on Chinese Governmental Programme for Fight for sight as a speaker of workshops in main university hospital centres (Shantou and Guangzhou, China; July 2008).

Invited as a speaker about TOPORS and adRP: Novel function in photoreceptor cells. Asian-Pacific Academy of Ophthalmology (Bali, Indonesia, 2009).