Maja Stojiljković

Full Research Professor
Laboratory for Molecular Biomedicine

Institute of Molecular Genetics and Genetic Engineering (IMGGE),
University of Belgrade

Vojvode Stepe 444a, 11042 Belgrade 152, Serbia
Mobile:           +381 64 397 64 45                          
Phone:           +381 11 397 64 45
Fax:               +381 11 397 58 08
E-mail: maja.stojiljkovic@imgge.bg.ac.rs

EDUCATION

2009 - PhD in Molecular Biology, Faculty of Biology (FB), UB
(Polymorphisms in phenylalanine hydroxylase gene as gene expression regulators, phenotype modulators and population genetic markers)
2004 - B.Sc. in Molecular Biology, FB, University of Belgrade

RESEARCH EXPERIENCE

2020 - Full Research Professor, IMGGE, UB
2015 – 2020 - Senior Research Associate, IMGGE, UB
2010 - 2015 -
Research Associate, IMGGE, UB
2007 - 2010 - Research Assistant, IMGGE, UB
2006 - 2007 - Research Trainee, IMGGE, UB

CAREER HISTORY

National projects

  • Rare diseases: Molecular Pathophysiology, Diagnostic and Therapeutic Modalities and Social, Ethical and Legal Aspects, Leader of WP of an Integrative Interdisciplinary Research Project, dedicated to the effect of genetic variants on the phenotype and individualised therapy of RD patients (MESTD RS, No. III41004, 2011-2019; EB: 451-03-68/2020-14/ 200042, 2020).
  • Development of a new cell and tissue electroporator with ultrashort electrical impulses, Participant (MESTD RS, Inovation project, 2017-2018).
  • Equitable Policies and Services for Rare Disease Patients, funded by the Delegation of the European Union to the Republic of Serbia, Participant at the interdisciplinary project (2015-2016).
  • Genomic elements in phenotype modulation, Participant (MESTD RS, No. 143051, 2005-2010).
  • Mutated gene in different genetic backgrounds, Participant (MESTD RS, No. 1417, 2002-2004). 

International projects

  • European Joint Programme on Rare Diseases, Participant (825575_US14, 2019-2023)
  • Orphanet Network- Direct Grant, Participant (EU-831390-ONW-HP-PJ-03-2018, 2018-2020)
  • RD-CONNECT, EU-FP7, Associated member (2012-2018)
  • Strengthening the Research Potential of IMGGE through Reinforcement of Biomedical Science of Rare Diseases in Serbia – en route for innovation, SERBORDISinn” (EU-FP7-REGPOT, 316088, 2013-2016), funded by EC, Leader of WP dedicated to dissemination and promotion
  • Molecular basis of organic acidurias in Serbia and application of new therapeutic strategies based on genotype (451-03-02635/2011-14/14, PRI-AIBSE-2011-1126, 2012-2013), funded by Ministry of Education, Science and Technological Development, Republic of Serbia (MESTD RS) and Ministry of Economy and Competitiveness, Kingdom of Spain, as a part of Scientific and Technological cooperation program. Leader of the Serbian team.

OTHER ACTIVITIES

Since 2020 - Development Management of the Sector for Laboratory Investigations at the IMGGE, https://www.imgge.bg.ac.rs/index.php/en/services
Since 2020 - Professor at the postgraduate courses in Molecular biology at the Faculty of Biology, University of Belgrade: “Genes and human diseases”, https://www.bio.bg.ac.rs/materijali_organizacionih_celina/knjiga-predmeta-das-mol.html
2010-2020 - Teaching experience at two postgraduate courses in Molecular biology at the Faculty of Biology, University of Belgrade: “Molecular genetics in diagnostics, prevention and therapy of human diseases” and “Personalized Medicine and Pharmacogenetics”
Since 2019 - Secretary of the International Collaboration on Rare Diseases and Orphan Drugs (Since 2019) – www.icord.es
2014-2019 – Member of the Board of the International Collaboration on Rare Diseases and Orphan Drugs – www.icord.es
2016-2018 - Development Management of the Sector for Laboratory Investigations at the IMGGE
Since 2016 - Genomic Medicine Alliance Ambasador, http://www.genomicmedicinealliance.org
Since 2010 - Assistant Coordinator of Serbian ORPHANET team, www.orpha.net
Since 2010 - Member of Expert Committee of National Organization for Rare Diseases of Serbia, NORBS, www.norbs.rs

RESEARCH INTEREST

Dedicated to fundamental and applied biomedical research with a focus on rare diseases. Conducted pioneer studies on molecular-genetic basis of several rare diseases in Serbian population (phenylketonuria, tetrahydrobiopterin dificiencies, organic acidurias, thalassemia, congenital adrenal hyperplasia etc.), which enabled genetic diagnostics of these diseases in the country. Performs functional studies of novel genetic variants (transcriptional studies, protein activity studies) in order to understand the impact of the variant on the rare disease phenotype, to elucidate genotype-phenotype correlation and to assess genotype-base prediction of drug efficacy (e.g. responsiveness of phenylketonuria patients to drug KUVAN).

SELECTED PUBLICATIONS

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.

Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. Eur J Med Genet. 2020 Mar;63(3):103767. doi: 10.1016/j.ejmg.2019.103767. Epub 2019 Sep 16.

Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. Rare Diseases in Africa and the Protea Declaration – collaborative approaches for the unmet needs and potential benefits for Africa. Nat Genet. 2020 Jan;52(1):21-26. doi: 10.1038/s41588-019-0552-2.

Danique van Vliet, Annemiek M.J. van Wegberg , Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley Francjan J. van Spronsen. Untreated PKU Patients without Intellectual Disability: What Do They Teach Us? Nutrients 2019, 11, 2572; doi:10.3390/nu11112572

Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. Gene. 2019 Jun 30;703:17-25. doi: 10.1016/j.gene.2019.04.002.

Klaassen K, Djordjevic M, Skakic A, Desviat LR, Pavlovic S, Perez B, Stojiljkovic M. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model. Biochem Genet. 2018 Oct;56(5):533-541. doi: 10.1007/s10528-018-9858-5. Epub 2018 Apr 13.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet J Rare Dis. 2018 Aug 29;13(1):149.

Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants. Clin Genet. 2018 Feb;93(2):350-355. doi: 10.1111/cge.13093.

Spasovski D, Spasovski V, Baščarević Z, Stojiljković M, Vreća M, Anđelković M, Pavlović S. Intra-articular injection of autologous adipose-derived mesenchymal stem cells in the treatment of knee osteoarthritis. J Gene Med. 2018 Jan;20(1). doi: 10.1002/jgm.3002. Epub 2018 Jan 22.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP. Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

Viennas E, Komianou A, Mizzi C, Stojiljkovic M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukic B, Katsila T, van der Spek PJ, Pavlovic S, Tzimas G, Patrinos GP. Expanded national database collection and data coverage in the FINDbase database worldwide database for clinically relevant genomic variation allele frequencies. NAR 2017;45(D1):D846-D853..

Klaassen K, Stankovic B, Kotur N, Djordjevic M, Zukic B, Nikcevic G, Ugrin M, Spasovski V, Srzentic S, Pavlovic S, Stojiljkovic M. New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro. J Appl Genet 2017 Feb;58(1):79-85.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. Clin Genet. 2016; 90(3): 252-7.

Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. Orphanet J Rare Dis. 2015; 10: 68.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Kecman B, Ugrin M, Zukic B, Desviat LR, Pavlovic S, Perez B. Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. J Pediatr Endocrinol Metab. J Pediatr Endocrinol Metab. 2015; 28(3-4): 477-80.

Stojiljkovic M, Klaassen K, Pavlovic S. Molecular characteristics, phenotypic diversity and genotype-estimated therapeutic responsiveness of Serbian patients with phenylketonuria. J Med Biochem 2014; 33: 97-107. Review article

Giardine B, Borg J, Higgs D, Peterson K, Philipsen S, Maglott D, Singleton B, Anstee D, Basak AN, Clark B, Costa F, Faustino P, Fedosyuk H, Felice A, Francina A, Galanello R, Gallivan M, Georgitsi M, Gibbons R, Giordano P, Harteveld C, Hoyer J, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis M, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye J, Wiemann C, Zukic B, Chui D, Wajcman H, Hardison R, Patrinos P. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet 2011: 43(4): 295-301. https://www.ncbi.nlm.nih.gov/pubmed/21423179

Stojiljkovic M, Zukic B, Tosic N, Karan Djurasevic T, Spasovski V, Nikcevic G, Pavlovic S. Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8. Mol Genet Metab 2010: 101: 81-83. https://www.ncbi.nlm.nih.gov/pubmed/20599406

Stojiljkovic M, Perez B, Desviat LR, Aguado C, Ugarte M, Pavlovic S. The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro. Protein J: 2009 28: 294. https://www.ncbi.nlm.nih.gov/pubmed/19629656

Stojiljkovic M, Jovanovic J, Djordjevic M, Grkovic S, Cvorkov Drazic M, Petrucev B, Tosic N, Karan Djurasevic T, Stojanov Lj, Pavlovic S. Molecular and phenotypic characteristics of phenylketonuria patients in Serbia and Montenegro. Clin Genet 2006: 70: 151-155. https://www.ncbi.nlm.nih.gov/pubmed/16879198

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