Parvathy Venugopal

Research Interests

Regenerative medicine (incl. stem cells) Genomics Genetics Haematology Haematological Tumours Gene and Molecular Therapy

Ms Parvathy Venugopal

Research Fellow

Centre for Cancer Biology

College of Health

Eligible to supervise Masters and PhD (as Co-Supervisor) - email supervisor to discuss availability.

Dr. Parvathy Venugopal is a research fellow at the Centre for Cancer Biology in Adelaide, specialising in the genetics of inherited bone marrow failure syndromes and leukemia predisposition. With a strong foundation in regenerative medicine, she brings expertise in stem cell biology and disease modelling. Her work has significantly advanced the understanding of germline and somatic mutations driving inherited hematological disorders. She has been instrumental in the development of in vitro and in vivo models that are advancing knowledge of disease mechanisms in bone marrow failure and hematologic malignancies. Her research is driven by a strong interest in identifying the underlying genetic lesions that cause disease and in understanding the clonal dynamics of spontaneous somatic genetic rescue in inherited disease, offering potential clues to guide the development of novel therapeutic strategies.A recipient of the prestigious Maddie Riewoldt’s Vision Fellowship (2020–23), Dr. Venugopal also plays key roles in the scientific community as a steering committee member for the National Symposium on Bone Marrow Failure Syndromes and as a biocurator for ClinGen’s Myeloid Malignancy Variant Curation Expert Panel since 2021.

Date Institution name Country Title
2012 - 2016 University of Adelaide Australia PhD
2009 Manipal Institute of Regenerative Medicine India M.Sc Regenerative Medicine

Year Citation
2025 Homan, C. C., Scott, H. S., & Venugopal, P. (2025). Another Fanconi anemia gene joins the club. Journal of Clinical Investigation, 135(11), e192382-1-e192382-4.
DOI Scopus1 WoS1 Europe PMC1
2024 Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
DOI Scopus4 WoS1 Europe PMC2
2024 Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
DOI Scopus9 WoS8 Europe PMC6
2023 Saygin, C., Roloff, G. W., Hahn, C. N., Chhetri, R., Gill, S. I., Elmariah, H., . . . Godley, L. A. (2023). Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies. Blood Advances, 7(4), 549-554.
DOI Scopus44 WoS44 Europe PMC36
2023 Kazenwadel, J., Venugopal, P., Oszmiana, A., Toubia, J., Arriola-Martinez, L., Panara, V., . . . Harvey, N. L. (2023). A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature. Nature, 614(7947), 343-348.
DOI Scopus30 WoS31 Europe PMC31
2023 Homan, C. C., Drazer, M. W., Yu, K., Lawrence, D. M., Feng, J., Arriola-Martinez, L. A., . . . Brown, A. L. (2023). Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants. Blood Advances, 7(20), 6092-6107.
DOI Scopus30 WoS26 Europe PMC22
2022 Feurstein, S., Luo, X., Shah, M., Walker, T., Mehta, N., Wu, D., & Godley, L. A. (2022). Revision of RUNX1 variant curation rules. Blood Advances, 6(16), 4726-4730.
DOI Scopus14 WoS11 Europe PMC10
2021 Homan, C. C., Venugopal, P., Arts, P., Shahrin, N. H., Feurstein, S., Rawlings, L., . . . Hahn, C. N. (2021). GATA2 deficiency syndrome: a decade of discovery. Human Mutation, 42(11), 1399-1421.
DOI Scopus51 WoS44 Europe PMC43
2021 Homan, C. C., Venugopal, P., Arts, P., Shahrin, N. H., Feurstein, S., Rawlings, L., . . . Hahn, C. N. (2021). Cover, Volume 42, Issue 11. Human Mutation, 42(11).
DOI
2020 Venugopal, P., Gagliardi, L., Forsyth, C., Feng, J., Phillips, K., Babic, M., . . . Scott, H. S. (2020). Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss. BMC Medical Genetics, 21(1), 35-1-35-5.
DOI Scopus3 WoS3 Europe PMC3
2018 Chong, C. -E., Venugopal, P., Stokes, P., Lee, Y., Brautigan, P., Yeung, D., . . . Scott, H. (2018). Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. Leukemia, 32(1), 194-202.
DOI Scopus56 WoS54 Europe PMC52
2017 Carruthers, V., Nicola, M., Venugopal, P., Hahn, C. N., Scott, H. S., & Revesz, T. (2017). Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features. Journal of paediatrics and child health, 53(10), 1018-1020.
DOI Scopus1 WoS1 Europe PMC1
2017 Venugopal, P., Moore, S., Lawrence, D., George, A., Hannan, R., Bray, S., . . . Scott, H. (2017). Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Haematologica, 102(12), e506-e509.
DOI Scopus29 WoS25 Europe PMC23
2015 Hahn, C., Venugopal, P., Scott, H., & Hiwase, D. (2015). Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy. Immunological Reviews, 263(1), 257-278.
DOI Scopus42 WoS38 Europe PMC40
2015 Hahn, C., Brautigan, P., Chong, C., Janssan, A., Venugopal, P., Lee, Y., . . . Scott, H. (2015). Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. Leukemia, 29(8), 1795-1797.
DOI Scopus9 WoS10 Europe PMC11
2015 Hu, Z., Scott, H., Qin, G., Zheng, G., Chu, X., Xie, L., . . . Wei, C. (2015). Revealing missing human protein isoforms based on ab initio prediction, RNA-seq and proteomics. Scientific Reports, 5(article no. 10940), 10940-1-10940-15.
DOI Scopus33 WoS27 Europe PMC22
2014 Swamynathan, P., Venugopal, P., Kannan, S., Thej, C., Kolkundar, U., Bhagwat, S., . . . Balasubramanian, S. (2014). Are serum-free and xeno-free culture conditions ideal for large scale clinical grade expansion of Wharton's jelly derived mesenchymal stem cells?: a comparative study. Stem cell research and therapy, 5(88), 1-17.
DOI Scopus96 WoS90 Europe PMC72
2013 Balasubramanian, S., Thej, C., Venugopal, P., Priya, N., Zakaria, Z., SundarRaj, S., & Majumdar, A. S. (2013). Higher propensity of Wharton's jelly derived mesenchymal stromal cells towards neuronal lineage in comparison to those derived from adipose and bone marrow. Cell biology international, 37(5), 507-515.
DOI Scopus58 WoS48 Europe PMC41
2012 Balasubramanian, S., Venugopal, P., SundarRaj, S., Zakaria, Z., Majumdar, A. S., & Ta, M. (2012). Comparison of chemokine and receptor gene expression between Wharton's jelly and bone marrow-derived mesenchymal stromal cells. Cytotherapy, 14(1), 26-33.
DOI Scopus48 WoS44 Europe PMC36
2011 Venugopal, P., Balasubramanian, S., Majumdar, A. S., & Ta, M. (2011). Isolation, characterization, and gene expression analysis of Wharton's jelly-derived mesenchymal stem cells under xeno-free culture conditions. Stem cells and cloning, 2011(4), 39-50.
DOI Scopus45 WoS41 Europe PMC31
2010 Nekanti, U., Mohanty, L., Venugopal, P., Balasubramanian, S., Totey, S., & Ta, M. (2010). Optimization and scale-up of Wharton's jelly-derived mesenchymal stem cells for clinical applications. Stem cell research, 5(3), 244-254.
DOI Scopus117 WoS95 Europe PMC81
2010 Nekanti, U., Dastidar, S., Venugopal, P., Totey, S., & Ta, M. (2010). Increased proliferation and analysis of differential gene expression in human Wharton's jelly-derived mesenchymal stromal cells under hypoxia. International journal of biological sciences, 6(5), 499-512.
DOI Scopus154 WoS133 Europe PMC116

Year Citation
2023 Scott, H. S., Zerella, J., Homan, C., Arts, P., Lin, S., Spinelli, S. J., . . . Hahn, C. N. (2023). ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy. In BLOOD Vol. 144 (pp. LBA8). CA, San Diego: ELSEVIER.
DOI WoS2
2022 Saygin, C., Roloff, G. W., Hahn, C. N., Chhetri, R., Gill, S., Elmariah, H., . . . Godley, L. A. (2022). Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies. In BLOOD Vol. 140 (pp. 10542-10544). LA, New Orleans: ELSEVIER.
DOI
2019 Venugopal, P., Babic, M., Barnett, C., Bray, S., Brown, A., Cheah, J., . . . Young, C. C. (2019). IMPLICATIONS OF REVERTANT SOMATIC MOSAICISM IN BONE MARROW FAILURE SYNDROMES. In EXPERIMENTAL HEMATOLOGY Vol. 76 (pp. S90). ELSEVIER SCIENCE INC.
DOI
2019 Venugopal, P., Cheah, J. J. C., Eshraghi, L., Shahrin, N. H., Homan, C., Feng, J., . . . Scott, H. S. (2019). An Integrative Genomic Approach to Examine Mutations and Biological Pathways Associated with Hematological Malignancy Development in DDX41 Mutated Families. In BLOOD Vol. 134 (pp. 3 pages). FL, Orlando: ELSEVIER.
DOI WoS2
2019 Brown, A. L., Babic, M., Schreiber, A., Feng, J., Dobbins, J., Arts, P., . . . Scott, H. S. (2019). Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility. In BLOOD Vol. 134 (pp. 3 pages). FL, Orlando: ELSEVIER.
DOI
2019 Hahn, C. N., Babic, M., Brautigan, P. J., Venugopal, P., Phillips, K., Dobbins, J., . . . Scott, H. S. (2019). Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data. In BLOOD Vol. 134 (pp. 4 pages). FL, Orlando: ELSEVIER.
DOI WoS2
2016 Bassal, M. A., Leo, P., Samaraweera, S. E., Maung, K. Z. Y., Babic, M., Venugopal, P., . . . D'Andrea, R. (2016). Metabolic Profiling of Adult Acute Myeloid Leukemia (AML). In BLOOD Vol. 128 (pp. 6 pages). San Diego, CA: AMER SOC HEMATOLOGY.
DOI WoS1

  • The missing heritability of rare diseases: discovery to implementation, Medical Research Future Fund, 01/01/2023 - 31/12/2027

Date Role Research Topic Program Degree Type Student Load Student Name
2024 Co-Supervisor - Doctor of Philosophy Doctorate Full Time Mr An Thanh Dung Nguyen

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