Raman Sharma

Research Interests

Gene and Molecular Therapy Neurogenetics Neurology and Neuromuscular Diseases Neuroscience, Behaviour and Brain Health Translational Health Outcomes

Dr Raman Sharma

University Research Fellow

School of Medicine

College of Health

Eligible to supervise Masters and PhD - email supervisor to discuss availability.

Raman's research focuses on understanding the molecular pathways altered by the gene variants implicated in neurodevelopmental and neurodegenerative disorders with aim of using this knowledge for developing treatments for the affected patients. Raman has over 30 years of experience in molecular and cell biology. His research has been supported by funding from the Australian Research Council, the National Health and Medical Research Council, Channel 7 Children's Research Foundation, Women's and Children's Hospital Foundation, Cancer Council of South Australia, National Breast Cancer Foundation and Cancer Council Queensland during last number of years.In 2009, He was awarded a UICC Yamagiwa-Yoshida Memorial International Cancer Fellowship funded by the Union for International Cancer Control (Switzerland) to work at the Scripps Institute, San Diego, USA, and in recognition to his outstanding contribution during this fellowship, he was inducted as a Life-time Honorary Fellow of UICC. During last many years, he has published in journals such as JBC, Nature Medicine, Oncogene, Cancer Research, Am J Hum Genet, Mol Cell Biol, Current Biology. He is passionate about mentoring and teaching theoretical and practical aspects of vast area of molecular and cell biology to young students.

Project 1

Title: Testing the efficacy of Splice-Switching Oligonucleotides in humanised preclinical Timmdc1 mouse model of an inherited, childhood-fatal polyneuropathy

Description: We identified a deep-intronic homozygous TIMMDC1 variant in two affected children (deceased) and used splice-switching oligonucleotides (SSOs) to efficiently restore normal levels of mRNA, protein, and mitochondrial function in their skin fibroblasts. We have generated a humanised preclinical Timmdc1 mouse model that recapitulates human symptoms. This project will determine molecular and cellular consequences of treating the Timmdc1 homozygous mutant mice with SSOs as a step towards developing treatments for patients with this variant.

 

Project 2

Title: Deciphering the mechanism of neurodevelopmental disabilities caused by THOC2 mRNA export factor variants using patient-derived iPSCs

Description: THOC2 gene encodes subunit of a highly-conserved TREX (Transcription-Export) complex that facilitates mRNA export from the cell nucleus to the cytoplasm. We have implicated >60 THOC2 variants in X-linked neurodevelopmental disabilities (NDDs). To study the mechanism of aberrant THOC2 variant function in NDDs, we have generated THOC2 patient-derived iPSCs for studying the cellular and molecular consequences of THOC2 variants on neural induction and differentiation.

 

Both Projects

Projects available for: Honours and HDR

Location: AHMS Building

Research Project start: Semester 1 and 2

Date Position Institution name
2014 - ongoing University Research Fellow University of Adelaide
2011 - 2013 Research Fellow Women's & Children's Health Research Institute Inc, North Adelaide
2003 - 2010 Senior Research Fellow Hanson Institute, IMVS
2002 - 2003 Medical Scientist - Team Leader Women’s and Children’s Hospital & Bionomics Limited
2002 - ongoing Affiliate Senior Lecturer University of Adelaide
2000 - 2002 Senior Research Officer Institute of Medical and Veterinary Science
1998 - 1999 Research Officer Institute of Medical and Veterinary Science
1996 - 1998 Postdoctoral Research Fellow University of Adelaide
1995 - 1996 Postdoctoral Research Fellow University of Adelaide

Date Type Title Institution Name Country Amount
2014 Award The Human Genetics Society of Australasia Annual Scientific Meeting Travel Award - - -
2009 Fellowship UICC Yamagiwa-Yoshida Memorial International Cancer Fellowship - - -
1993 Fellowship French Government International Research Fellowship - - -
1990 Award Visiting Fellow, North Carolina State University, Raleigh USA - - -
1981 Award Dr MS Randhawa Medal of PAU, India Punjab Agricultural University, Ludhiana - -

Date Institution name Country Title
1984 PAU India PhD: Genetics
1980 PAU India MSc: Genetics
1977 GNDU India BSc

Year Citation
2025 Bhattacharjee, R., Agarwala, S., Mazurkiewicz, D., Gecz, J., & Sharma, R. (2025). Transcription-Export complex in neurodevelopmental disorders. Current Opinion in Genetics and Development, 94, 102380-1-102380-9.
DOI WoS1
2024 Mincheva-Tasheva, S., Pfitzner, C., Kumar, R., Kurtsdotter, I., Scherer, M., Ritchie, T., . . . Thomas, P. Q. (2024). Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties. Open Biology, 14(4), 230383-1-230383-13.
DOI Europe PMC1
2024 de Nys, R., van Eyk, C. L., Ritchie, T., Møller, R. S., Scheffer, I. E., Marini, C., . . . Gecz, J. (2024). Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. Translational Psychiatry, 14(1), 1-9.
DOI Scopus4 WoS4 Europe PMC3
2024 Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., . . . Gecz, J. (2024). Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature Communications, 15(1), 1210-1-1210-5.
DOI Scopus11 WoS10 Europe PMC8
2024 de Nys, R., Gardner, A. E., van Eyk, C., Tasheva, S., Thomas, P. Q., Bhattacharjee, R., . . . Gecz, J. (2024). Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway. Molecular Psychiatry, 29(7), 2199-2210.
DOI Scopus4 WoS4 Europe PMC4
2023 Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., . . . Corbett, M. A. (2023). Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes, 14(8), 1565.
DOI Scopus3 WoS2 Europe PMC3
2022 Kumar, R., Kamath, K. S., Carroll, L., Hoffmann, P., Gecz, J., & Jolly, L. A. (2022). Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines. STAR protocols, 3(4), 1-31.
DOI Scopus4 WoS4 Europe PMC4
2022 Kumar, R., Corbett, M. A., Smith, N. J. C., Hock, D. H., Kikhtyak, Z., Semcesen, L. N., . . . Gecz, J. (2022). Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. npj Genomic Medicine, 7(1), 9-1-9-12.
DOI Scopus14 WoS11 Europe PMC16
2022 Jolly, L. A., Kumar, R., Penzes, P., Piper, M., & Gecz, J. (2022). The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders. Biological Psychiatry, 92(8), 614-625.
DOI Scopus21 WoS23 Europe PMC19
2021 Field, M. J., Sharma, R., Hackett, A., Kayumi, S., Shoubridge, C., Ewans, L. J., . . . Corbett, M. A. (2021). Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human Mutation, 42(7), 835-847.
DOI Scopus1 WoS1 Europe PMC1
2021 Pham, D. H., Pitman, M. R., Sharma, R., Jolly, L., Schulz, R., Gardner, A., . . . Gecz, J. (2021). Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Hum Mutat, 42(8), 1030-1041.
DOI Scopus1 WoS1 Europe PMC1
2021 de Nys, R., Sharma, R., & Gecz, J. (2021). Protocadherin 19 clustering epilepsy and neurosteroids: opportunities for intervention. International Journal of Molecular Sciences, 22(18), 9769-1-9769-14.
DOI Scopus5 WoS5 Europe PMC5
2020 Kolc, K. L., Møller, R. S., Sadleir, L. G., Scheffer, I. E., Sharma, R., & Gecz, J. (2020). PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.. Adv Exp Med Biol, 10, 177-187.
DOI Scopus19 Europe PMC15
2020 Palmer, E. E., Carroll, R., Shaw, M., Sharma, R., Minoche, A. E., Leffler, M., . . . Gecz, J. (2020). RLIM Is a candidate dosage-sensitive gene for individuals with varying duplications of Xq13, intellectual disability, and distinct facial features. American Journal of Human Genetics, 107(6), 1157-1169.
DOI Scopus8 WoS9 Europe PMC9
2020 Johnson, B. V., Gecz, J., Jolly, L., Sharma, R., Corbett, M., Perez-Jurado, L., . . . Domingo, D. (2020). Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling. Biological Psychiatry, 87(2), 100-112.
DOI Scopus57 WoS55 Europe PMC49
2020 Kumar, R., Palmer, E., Gardner, A. E., Carroll, R., Banka, S., Abdelhadi, O., . . . Gecz, J. (2020). Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor. Front Mol Neurosci, 13, 15 pages.
DOI Scopus17 WoS15 Europe PMC15
2020 Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., . . . Gecz, J. (2020). A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Translational Psychiatry, 10(1), 127-1-127-9.
DOI Scopus32 WoS28 Europe PMC28
2020 Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., . . . Gecz, J. (2020). Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. European Journal of Medical Genetics, 63(10), 1-6.
DOI Scopus5 WoS4 Europe PMC5
2019 Mattioli, F., Isidor, B., Abdul-Rahman, O., Gunter, A., Huang, L., Kumar, R., . . . Piton, A. (2019). Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. Human Molecular Genetics, 28(6), 952-960.
DOI Scopus25 WoS24 Europe PMC18
2018 Kumar, R., Gardner, A., Homan, C., Douglas, E., Mefford, H., Wieczorek, D., . . . Gecz, J. (2018). Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Human mutation, 39(8), 1126-1138.
DOI Scopus21 WoS23 Europe PMC21
2018 Pederick, D., Richards, K., Piltz, S., Kumar, R., Mincheva-Tasheva, S., Mandelstam, S., . . . Thomas, P. (2018). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy. Neuron, 97(1), 59-e5.
DOI Scopus98 WoS93 Europe PMC95
2017 Jeffery, J., Kalimutho, M., Johansson, P., Cardenas, D., Kumar, R., & Khanna, K. (2017). FBXO31 protects against genomic instability by capping FOXM1 levels at the G2/M transition. Oncogene, 36(7), 1012-1022.
DOI Scopus31 WoS31 Europe PMC30
2017 Pham, D., Tan, C., Homan, C., Kolc, K. L., Corbett, M., McAninch, D., . . . Gecz, J. (2017). Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα). Human Molecular Genetics, 26(11), 2042-2052.
DOI Scopus27 WoS25 Europe PMC25
2017 Gabriele, M., Vulto-van Silfhout, A., Germain, P., Vitriolo, A., Kumar, R., Douglas, E., . . . de Vries, B. (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics, 100(6), 907-925.
DOI Scopus132 WoS122 Europe PMC118
2017 Carroll, R., Kumar, R., Shaw, M., Slee, J., Kalscheuer, V., Corbett, M., & Gecz, J. (2017). Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European Journal of Human Genetics, 25(9), 1078-1082.
DOI Scopus11 WoS9 Europe PMC8
2017 Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., . . . Gecz, J. (2017). A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. American Journal of Human Genetics, 101(6), 995-1005.
DOI Scopus23 WoS26 Europe PMC24
2016 van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., . . . Eichler, E. E. (2016). Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry, 21(1), 126-132.
DOI Scopus142 WoS133 Europe PMC130
2016 Dave, A., Martin, S., Kumar, R., Craig, J., Burdon, K., & Sharma, S. (2016). EPHA2 mutations contribute to congenital cataract through diverse mechanisms. Molecular Vision, 22, 18-30.
Scopus24 WoS21 Europe PMC18
2016 Friez, M., Brooks, S., Stevenson, R., Field, M., Basehore, M., Adès, L., . . . Schwartz, C. (2016). HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open, 6(4), e009537-1-e009537-9.
DOI Scopus43 WoS41 Europe PMC40
2016 Kumar, R., Ha, T., Pham, D., Shaw, M., Mangelsdorf, M., Friend, K. L., . . . Gecz, J. (2016). A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. European Journal of Human Genetics, 24(11), 1612-1616.
DOI Scopus10 WoS10 Europe PMC8
2015 Tan, C., Shard, C., Ranieri, E., Hynes, K., Pham, D., Leach, D., . . . Gecz, J. (2015). Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics, 24(18), 5250-5259.
DOI Scopus72 WoS65 Europe PMC58
2015 Kumar, R., Corbett, M., Van Bon, B., Woenig, J., Weir, L., Douglas, E., . . . Gecz, J. (2015). THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability. American Journal of Human Genetics, 97(2), 302-310.
DOI Scopus60 WoS59 Europe PMC57
2015 Kumar, R., Corbett, M., Van Bon, B., Gardner, A., Woenig, J., Jolly, L., . . . Gecz, J. (2015). Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics, 24(25), 7171-7181.
DOI Scopus33 WoS31 Europe PMC29
2015 Kumar, R., Corbett, M., Smith, N., Jolly, L., Tan, C., Keating, D., . . . Gecz, J. (2015). Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Human Molecular Genetics, 24(7), 2000-2010.
DOI Scopus20 WoS19 Europe PMC21
2014 Homan, C., Kumar, R., Nguyen, L., Haan, E., Raymond, F., Abidi, F., . . . Jolly, L. (2014). Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. American Journal of Human Genetics, 94(3), 470-478.
DOI Scopus119 WoS117 Europe PMC111
2014 Johansson, P., Jeffery, J., Al-Ejeh, F., Schulz, R., Callen, D., Kumar, R., & Khanna, K. (2014). SCF-FBXO31 E3 ligase targets DNA replication factor Cdt1 for proteolysis in the G2 phase of cell cycle to prevent Re-replication. Journal of Biological Chemistry, 289(26), 18514-18525.
DOI Scopus48 WoS47 Europe PMC45
2013 Bhaskaran, N., Drogen, F. V., Ng, H. F., Kumar, R., Ekholm-Reed, S., Peter, M., . . . Reed, S. I. (2013). Fbw7α and Fbw7γ collaborate to shuttle cyclin E1 into the nucleolus for multiubiquitylation. Molecular and Cellular Biology, 33(1), 85-97.
DOI Scopus32 WoS33 Europe PMC32
2013 Lim, S., Kumar, R., Akkamsetty, Y., Wang, W., Ho, K., Neilsen, P., . . . Callen, D. (2013). Development of a novel cell-based assay system EPISSAY for screening epigenetic drugs and liposome formulated decitabine. BMC Cancer, 13(113), 1-11.
DOI Scopus9 WoS6 Europe PMC4
2013 Neilsen, P., Noll, J., Mattiske, S., Bracken, C., Gregory, P., Schulz, R., . . . Callen, D. (2013). Mutant p53 drives invasion in breast tumors through up-regulation of miR-155. Oncogene, 32(24), 2992-3000.
DOI Scopus154 WoS143 Europe PMC133
2012 Lim, S., Wong, N., Suetani, R., Ho, K., Ng, J., Neilsen, P., . . . Callen, D. (2012). Specific-site methylation of tumour suppressor ANKRD11 in breast cancer. European Journal of Cancer, 48(17), 3300-3309.
DOI Scopus25 WoS23 Europe PMC23
2012 Huang, L., Jolly, L., Willis-Owen, S., Gardner, A., Sharma, R., Douglas, E., . . . Gecz, J. (2012). A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. American Journal of Human Genetics, 91(4), 694-702.
DOI Scopus84 WoS76 Europe PMC83
2012 Noll, J., Jeffery, J., Al-ejeh, F., Sharma, R., Khanna, K., Callen, D., & Neilsen, P. (2012). Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11. Oncogene, 2(12), 1203-1217.
DOI Scopus61 WoS57 Europe PMC57
2011 Kumar, R., Selth, L., Schulz, R., Tay, B., Neilsen, P., & Callen, D. (2011). Genome-wide mapping of ZNF652 promoter binding sites in breast cancer cells. Journal of Cellular Biochemistry, 112(10), 2742-2747.
DOI Scopus19 WoS16 Europe PMC19
2011 Lim, S., Neilsen, P., Sharma, R., Abell, A., & Callen, D. (2011). The application of delivery systems for DNA methyltransferase inhibitors. Biodrugs, 25(4), 227-242.
DOI Scopus10 WoS10 Europe PMC8
2011 Pishas, K., Al-ejeh, F., Zinonos, I., Kumar, R., Evdokiou, A., Brown, M., . . . Neilsen, P. (2011). Nutlin-3a is a potential therapeutic for Ewing sarcoma. Clinical Cancer Research, 17(3), 494-504.
DOI Scopus61 WoS61 Europe PMC55
2010 Al-ejeh, F., Sharma, R., Wiegmans, A., Lakhani, S., Brown, M., & Khanna, K. (2010). Harnessing the complexity of DNA-damage response pathways to improve cancer treatment outcomes. Oncogene, 29(46), 6085-6098.
DOI Scopus119 WoS115 Europe PMC103
2010 Kumar, R., Cheney, K., Neilsen, P., Schulz, R., & Callen, D. (2010). CBFA2T3-ZNF651, like CBFA2T3-ZNF652, functions as a transcriptional corepressor complex. FEBS Letters, 584(5), 859-864.
DOI Scopus13 WoS12 Europe PMC12
2010 Sharma, R., Iachini, D., Neilsen, P., Kaplan, J., Michalakas, J., Anderson, P., . . . Callen, D. (2010). Systematic characterisation of the rat and human CYP24A1 promoter. Molecular and Cellular Endocrinology, 325(1-2), 46-53.
DOI Scopus21 WoS14 Europe PMC12
2010 Lamprecht, B., Walter, K., Kreher, S., Kumar, R., Hummel, M., Lenze, D., . . . Mathas, S. (2010). Derepression of an endogenous long terminal repeat activates the CSF1R proto-oncogene in human lymphoma. Nature Medicine, 16(5), 571-580.
DOI Scopus319 WoS291 Europe PMC278
2010 Callen, D., Ricciardelli, C., Butler, M., Stapleton, A., Stahl, J., Kench, J., . . . Holm, R. (2010). Co-expression of the androgen receptor and the transcription factor ZNF652 is related to prostate cancer outcome. Oncology Reports, 23(4), 1045-1052.
DOI Scopus13 WoS11 Europe PMC9
2008 Holm, R., Knopp, S., Kumar, R., Lee, J., Nesland, J., Trope, C., & Callen, D. (2008). Expression of ZNF652, a novel zinc finger protein, in vulvar carcinomas and its relation to prognosis. Journal of Clinical Pathology, 61(1), 59-63.
DOI Scopus11 WoS10 Europe PMC8
2007 Kurnar, R., Rangra, V. S., Sharma, D. R., Thakur, N., & Negi, N. S. (2007). Dielectric relaxation studies of binary mixtures of N-methylacetamide and N,N-dimethylacetamide in benzene solutions using microwave absorption data. INDIAN JOURNAL OF PURE & APPLIED PHYSICS, 45(9), 759-763.
WoS3
2004 Lower, K., Kumar, R., Woollatt, E., Villard, L., Gecz, J., Sutherland, G., & Callen, D. (2004). Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene?. Hormone Research, 62(4), 208-214.
DOI Scopus5 WoS4 Europe PMC3
1996 Kumar, R., MarechalDrouard, L., Akama, K., & Small, I. (1996). Striking differences in mitochondrial tRNA import between different plant species. MOLECULAR & GENERAL GENETICS, 252(4), 404-411.
DOI WoS65
1995 KUMAR, R., DROUAUD, J., RAYNAL, M., & SMALL, I. (1995). CHARACTERIZATION OF THE NUCLEAR GENE ENCODING CHLOROPLAST RIBOSOMAL-PROTEIN S13 FROM ARABIDOPSIS-THALIANA. CURRENT GENETICS, 28(4), 346-352.
DOI WoS10 Europe PMC6
1995 KUMAR, R., LELU, M. A., & SMALL, I. (1995). PURIFICATION OF MITOCHONDRIA AND MITOCHONDRIAL NUCLEIC-ACIDS FROM EMBRYOGENIC SUSPENSION-CULTURES OF A GYMNOSPERM, LARIX X LEPTOEUROPAEA. PLANT CELL REPORTS, 14(8), 534-538.
DOI WoS12 Europe PMC10
1993 KUMAR, R., & LEVINGS, C. S. (1993). RNA EDITING OF A CHIMERIC MAIZE MITOCHONDRIAL GENE TRANSCRIPT IS SEQUENCE SPECIFIC. CURRENT GENETICS, 23(2), 154-159.
DOI WoS36 Europe PMC25
1988 CHAHAL, S. S., KUMAR, R., SIDHU, J. S., & MINOCHA, J. L. (1988). PEROXIDASE ISOZYME PATTERN IN PEARL-MILLET LINES RESISTANT AND SUSCEPTIBLE TO DOWNY MILDEW. PLANT BREEDING, 101(3), 256-259.
DOI WoS3
1987 PHUL, P. S., CHHINA, B. S., & KUMAR, R. (1987). ISOZYME ANALYSIS OF SOME MALE STERILE LINES IN SORGHUM-BICOLOR (L) MOENCH. PLANT BREEDING, 98(4), 342-345.
DOI WoS1
1985 KUMAR, R., & GUPTA, V. P. (1985). ISOZYME STUDIES IN INDIAN MUSTARD (BRASSICA-JUNCEA L). THEORETICAL AND APPLIED GENETICS, 70(1), 107-110.
DOI WoS8

Year Citation
2020 Palmer, E. E., Caroll, R., Shaw, M., Kumar, R., Nawaz, U., Minoche, A., . . . Gecz, J. (2020). <i>RLIM</i> is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features.. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 28 (pp. 995-996). SPRINGERNATURE.
2010 Lamprecht, B., Korden, W., Kreher, S., Kumar, R., Hummel, M., Lenze, D., . . . Mathas, S. (2010). DEREPRESSION OF AN ENDOGENOUS LONG TERMINAL REPEAT ACTIVATES THE CSF1R PROTO-ONCOGENE IN HODGKIN LYMPHOMA. In HAEMATOLOGICA Vol. 95 (pp. S2). FERRATA STORTI FOUNDATION.

Year Citation
2024 Gecz, J., Bhattacharjee, R., Palmer, E., Gardner, A., Carroll, R., Wee, I. C., . . . Kumar, R. (2024). Genetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits. Poster session presented at the meeting of Abstracts of the 57th European Society of Human Genetics Conference (ESHG 2024), as published in European Journal of Human Genetics. Berlin, Germany: Springer Nature.
DOI
2023 de Nys, R., Ritchie, T., Bhattacharje, R., Kumar, R., & Gecz, J. (2023). PCDH19 is regulated by neurosteroids and their receptors. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. AUSTRIA, Vienna: SPRINGERNATURE.
2020 Bhattacharjee, R., White, M., Thomas, P., Gecz, J., & Sharma, R. (2020). Investigating the Role of THOC2/TREX Nuclear mRNA Export in Neurodevelopmental Disorders. Poster session presented at the meeting of 14th Florey Postgraduate Research Conference, 2020. Adelaide.
2020 Gecz, J., Kolc, K., Sadleir, L., Depienne, C., Marini, C., Scheffer, I. E., . . . Roberts, R. (2020). Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE.
Grant Funding (in Australia)
2021-2024 Development of drought tolerant, high protein legume for arid Australia. Australian Research Council Linkage Project.  Iain Searle, Jozef Gecz, Amy Moss, Raman Kumar, Stuart Nagel, Malcolm Buckby
     
2022 Investigating the role of steroid hormone receptors and neurosteroids to improve outcomes for PCDH19 Clustering Epilepsy. PCDH19 Alliance, CA, USA Jozef Gecz, Raman Kumar and Paul Thomas
     
2022-2023 Oligonucleotide-driven treatment of an inherited, childhood-lethal polyneuropathy: Generation and characterisation of a humanised preclinical mouse model. Channel 7 Children’s Research Foundation.  Jozef Gecz, Raman Kumar and Paul Thomas
     
2019-2022 TREX nuclear mRNA export and healthy development. National Health and Medical Research Project Grant. Jozef Gecz, Raman Kumar and Paul Thomas
     
2017-2019 TREX-mediated nuclear mRNA export in neuronal differentiation and function.    Australian Research Council Discovery Project. Jozef Gecz, Raman Kumar and Lachlan Jolly
     
2016 Genotype phenotype investigations in PCDH19-Female Epilepsy. Women’s and Children’s Hospital Foundation. Duyen Pham, Jozef Gecz and Raman Kumar
     
2016 Deciphering the non-coding code: Finding the genetic basis for neurological disorders in large, well-studied families. Women’s and Children’s Hospital Foundation.  Mark Corbett and Raman Kumar
     
2014 Mutations in the mRNA export factor THOC2 cause intellectual disability. Channel 7 Children’s Research Foundation Raman Kumar, Jozef Gecz and Mark Corbett
     
2013 Mutations in THOC2 implicate mRNA export pathway in intellectual disability. Channel 7 Children’s Research Foundation  Raman Kumar, Jozef Gecz and Michael Field
     
2013-2014 Role of FBXO31-mediated protein degradation in mitotic progression. Cancer Council Queensland Cancer Research Project Grants Kum Kum Khanna and Raman Kumar
     
2013 THOC2 is a novel gene causing intellectual disability. Women’s and Children’s Hospital Foundation Raman Kumar, Jozef Gecz and Michael Field
     
2012 Functional characterisation of a mutant STXBP5L gene that is the likely cause of a novel childhood neurodegenerative disorder. Channel 7 Children’s Research Foundation Raman Kumar, Jozef Gecz, Mark Corbett and Eric Haan
     
2008-2010 The role of FBXO31 in a novel pathway of breast tumour suppression. Cancer Council and National Breast Cancer Foundation David F Callen, Raman Kumar and Gelareh Farshid
     
2009 The roles of SCFhCdc4/Fbxw7 isoforms in regulating the localization and proteolysis of cyclin E in human cells. UICC Yamagiwa-Yoshida Memorial International Cancer Fellowship, Union for International Cancer Control (Switzerland) Raman Kumar
     
2006 Investigation of the function of Nance-Horan Syndrome (NHS) gene.

Channel 7 Children’s Research Foundation

    		 Shiwani Sharma, Jozef Gecz, Jamie E Craig, Raman Kumar and Kathryn Burdon 
     
1996 Nested-Polymerase Chain Reaction and Expressed Sequence Tag-Based Cloning of Anion Efflux Channel Genes from Higher Plants. Australian Research Council Small Grant    Raman Kumar and Daniel P Schachtman
Teaching and Supervisory Experience - In Brief

Raman has supervised PhD (x8), MSc (x1) & Honours (x12) students and Research and Laboratory Assistants throughout his career.

Other:
  • MBBS fourth Year Research Projects: 8x completed
  • MBBS third Year Research Projects: 5x
  • BSc third year students: 7-8 week training projects: 9x
  • Several students with Summer Scholarship training programs funded by the Cancer Council of South Australia
  • Year 11-12 school students projects: many
Undergraduate and Postgraduate Teaching:

Teaching was part of his job as the Assistant Professor at the Department of Genetics, PAU, India. Over a period of six years, he lectured undergraduate and postgraduate students of Genetics and Biotechnology. Undergraduate Courses: Elements of Genetics, Principles of Genetics and Elementary Evolution. Postgraduate Courses: Biochemical Genetics, Molecular Cytogenetics, Plant Biotechnology, Fundamentals of Genetics and Fundamentals of Cytology and Cytogenetics.

Bioinformatics and Gene Sequencing, Department of Botany, University of Adelaide

Date Role Research Topic Program Degree Type Student Load Student Name
2024 Co-Supervisor Modelling THOC2 neurodevelopmental syndrome using patient-derived 3D brain organoids Master of Philosophy (Medical Science) Master Full Time Ms Shreya Agarwala
2021 Co-Supervisor What is responsible gene drive research in the Australian context? A case study of the development of gene drive mice. Doctor of Philosophy Doctorate Full Time Rebecca Paxton

Date Role Research Topic Program Degree Type Student Load Student Name
2020 - 2024 Principal Supervisor A Mouse Model of Transcription and mRNA Export (TREX) Complex Scaffold Protein THOC2- Related Neurodevelopmental Disorder Doctor of Philosophy Doctorate Full Time Mr Rudrarup Bhattacharjee
2019 - 2023 Co-Supervisor Protocadherin 19 Clustering Epilepsy: Epigenomic, Transcriptomic and Proteomic Analyses Doctor of Philosophy Doctorate Full Time Miss Rebekah Taylor de Nys
2009 - 2012 External Supervisor Epigenetics in Cancer: Basic and Translational Aspects Doctor of Philosophy Doctorate Full Time Ms Sue Lim
2008 - 2011 Co-Supervisor An Investigation of Mutant p53 Function Doctor of Philosophy Doctorate Full Time Dr Jacqueline Noll
2004 - 2008 Co-Supervisor Functional Analysis of ANKRD11 and FBX031; Two Candidature Tumour Suppressor Genes from the 16q24.3 Breast Cancer Loss of Heterozygosity Region Doctor of Philosophy Doctorate Full Time Mr Paul Neilsen

Date Role Membership Country
2013 - ongoing Member Human Genetics Society of Australasia, SA Branch -
2012 - ongoing Member Human Genetics Society of Australasia -
2008 - ongoing Member American Society for Biochemistry and Molecular Biology (ASBMB) -
2002 - ongoing Member Australian Society of Medical Research -

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