University Research Fellow
Adelaide Medical School
Faculty of Health and Medical Sciences
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.
- My Research
- Grants and Funding
- Professional Activities
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.
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.
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
Awards and Achievements
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 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 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. 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.
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.
- 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
Current Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 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 2020 Principal Supervisor Investigating the Role of TREX Nuclear mRNA Export in Neurodevelopmental Disorders Doctor of Philosophy Doctorate Full Time Mr Rudrarup Bhattacharjee
Past Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 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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