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Simran Kaur completed her undergraduate studies in Bachelor of Engineering in Biotechnology from Panjab University, India (2007). After working as a research analyst with BioXcel Corporation (2007-2009), she completed her two Master’s degrees (M. App.Sc in Molecular Biotechnology and M.Phil in Medicine) from University of Sydney (2009-2011). Simran first became interested in rare disease research when she investigated mitochondrial abnormalities in Rett syndrome mouse model as a part of her M.Phil study in Prof John Christodoulou’s lab in Sydney.
While working as a research assistant (2012-2015) with Prof Kathyrn North and Dr. Nigel Clarke at The Institute of Neuroscience and Muscle research, Children’s Hospital Westmead, she was involved in number of research and diagnostic projects as a part of Congenital myopathy and gene discovery group. The focus of team was to discover novel disease genes using traditional as well as next generation sequencing methods
Prior to relocating to Melbourne, Simran was based at Queensland Brain Institute, The University of Queensland (2015-2016), which further equipped her with the techniques to understand neuronal communication.
Scholarship, Graduate Woman Victoria Scholarship, Bursary in Memory of Feminist Fathers (AUD 4000)2018Scholarship, Murdoch Children's Research Institute and Victorian Clinical Genetics Services (AUD 5000)2019Oral presentation award, Research Student Association Symposium (AUD 50)
I am an early career researcher who has more than 12 years’ of professional experience in basic science, genetics and molecular biology with a committed track record in the field of brain and muscle disorders affecting children and adults. I am equipped with various laboratory and computer based research skills that enables me to investigate the cellular and molecular consequences of various rare disorders. Untangling the underlying hidden genetic and molecular causes for the problems in affected individuals is of particular interest to me. My excellent academic track record includes achieving gold medal in Bachelor of Engineering in Biotechnology from Prime Minister of India and later finishing Masters of Philosophy in record time of just one year. I have been awarded with several competitive scholarships, awards and grants to support my education and training in the field of medical research. I have successfully initiated various national and international collaborations and supported open-access knowledge sharing through various platforms including conferences and research publications. My resilience in education and research field is evident through my continuous hard work in spite of difficult circumstances and additional carer responsibilities. I believe in training junior staff/ students and mentoring them to achieve their goals. I am really passionate about patient advocacy and effective science communication through different media platforms to raise awareness about various disorders and help attract well-deserved attention. I am continuously working in collaboration with various teams to help improve the diagnostic strategies, particularly for the individuals who are either misdiagnosed or undiagnosed. I am passionate towards bridging the gap between knowledge gain and translational drug discoveries for various neurological disorders. My research vision is to connect, collaborate and contribute towards the scientific journey for finding the cause and solutions in individuals facing challenging health problems, thus shortening their diagnostic odyssey and improving the overall quality of life.
- Identifying novel disease genes in genetically undiagnosed individuals with Rett Syndrome
- Understanding the functional changes caused by the novel defected genes associated with various neurodevelopmental disorders
2. Menezes, MP, Waddell, L, Lenk, GM, Kaur, S, MacArthur, DG, Meisler, MH, & Clarke, NF. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul. Disord. 2014: 24 (8); 666-670.
3. Menezes, MP, Waddell, L, Lenk, GM, Kaur, S, MacArthur, DG, Meisler, MH, & Clarke, NF. Response. Neuromuscul. Disord. 2015: 25 (4); 360.
4. Cabrera-Serrano, M, Ghaoui, R, Ravenscroft, G, Johnsen, RD, Davis, MR, Corbett, A, Reddel, S, Sue, CM, Liang, C, Waddell, LB, Kaur, S, Lek, M, North, KN, MacArthur, DG, Lamont, PJ, Clarke, NF, & Laing, NG. Expanding the phenotype of GMPPB mutations. Brain. 2015: 138 (Pt 4); 836-844.
5. Ghaoui, R, Cooper, ST, Lek, M, Jones, K, Corbett, A, Reddel, SW, Needham, M, Liang, C, Waddell, LB, Nicholson, G, O'Grady, G, Kaur, S, Ong, R, Davis, M, Sue, CM, Laing, NG, North, KN, MacArthur, DG, & Clarke, NF. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurol. 2015: 72 (12); 1424-1432.
6. O'Grady, GL, Best, HA, Oates, EC, Kaur, S, Charlton, A, Brammah, S, Punetha, J, Kesari, A, North, KN, Ilkovski, B, Hoffman, EP, & Clarke, NF. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur. J. Hum. Genet. 2015: 23 (6); 883-886.
7. O'Grady, GL, Lek, M, Lamande, SR, Waddell, L, Oates, EC, Punetha, J, Ghaoui, R, Sandaradura, SA, Best, H, Kaur, S, Davis, M, Laing, NG, Muntoni, F, Hoffman, E, MacArthur, DG, Clarke, NF, Cooper, S, & North, K. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann. Neurol. 2016: 80 (1); 101-111.
8. Ghaoui, R, Benavides, T, Lek, M, Waddell, LB, Kaur, S, North, KN, MacArthur, DG, Clarke, NF, & Cooper, ST. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscul. Disord. 2016: 26 (8); 500-503.
9. Ghaoui, R, Palmio, J, Brewer, J, Lek, M, Needham, M, Evila, A, Hackman, P, Jonson, PH, Penttila, S, Vihola, A, Huovinen, S, Lindfors, M, Davis, RL, Waddell, L, Kaur, S, Yiannikas, C, North, K, Clarke, N, MacArthur, DG, Sue, CM, & Udd, B. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016: 86 (4); 391-398.
10. Oates, EC, Jones, KJ, Donkervoort, S.....Kaur, S, ...., North, KN, Clarke, NF, Lek, M, Beggs, AH, Bonnemann, CG, MacArthur, DG, Granzier, H, Davis, MR, & Laing, NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann. Neurol. 2018: 83 (6); 1105-1124. 11. Schonewolf-Greulich, B, Bisgaard, AM, Duno, M, Jespersgaard, C, Rokkjaer, M, Hansen, LK, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, NJ, Brondum-Nielsen, K, Larsen, MJ, Sorensen, KP, Christodoulou, J, Fagerberg, CR, & Tumer, Z. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. Clin. Genet. 2019: 95 (3); 403-408.
12. Schonewolf-Greulich, B, Bisgaard, AM, Moller, RS, Duno, M, Brondum-Nielsen, K, Kaur, S, Van Bergen, NJ, Lunke, S, Eggers, S, Jespersgaard, C, Christodoulou, J, & Tumer, Z. Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clin. Genet. 2019: 95 (2); 221-230.
13. Kaur, S, & Christodoulou, J. (2019). MECP2 Disorders. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews((R)). Seattle (WA).14. Kaur, S, Van Bergen, NJ, Gold, WA, Eggers, S, Lunke, S, White, SM, Ellaway, C, & Christodoulou, J. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient. Clin. Case Rep. 2019: 7 (12); 2476-2482.
15. Kaur, S, Van Bergen, NJ, Verhey, KJ, Nowell, CJ, Budaitis, B, Yue, Y, Ellaway, C, Brunetti-Pierri, N, Cappuccio, G, Bruno, I, Boyle, L, Nigro, V, Torella, A, Roscioli, T, Cowley, MJ, Massey, S, Sonawane, R, Burton, MD, Schonewolf-Greulich, B, Tumer, Z, Chung, WK, Gold, WA, & Christodoulou, J. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum. Mutat. 2020a: 41 (10); 1761-1774. Editor’s Choice Article.16. Kaur, S, Van Bergen, NJ, Verhey, KJ, Nowell, CJ, Budaitis, B, Yue, Y, Ellaway, C, Brunetti-Pierri, N, Cappuccio, G, Bruno, I, Boyle, L, Nigro, V, Torella, A, Roscioli, T, Cowley, MJ, Massey, S, Sonawane, R, Burton, MD, Schonewolf-Greulich, B, Tumer, Z, Chung, WK, Gold, WA, & Christodoulou, J. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum. Mutat. 2020b: 41 (10); Cover image.
17. Boyle, L, Rao, L, Kaur, S, Fan, X, Mebane, C, Hamm, L, Thornton, A, Ahrendsen, J, Anderson, M, Christodoulou, J, Gennerich, A, Shen, Y, & Chung, WK. Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder. medRxiv 2020: Preprint article, currently been peer-reviewed.
18. Kaur, S, Van Bergen, NJ, Ben Zeev, B, Leonardi, E, Tan, TY, Coman, D, Kamien, B, White, SM, St John, M, Phelan, D, Rigbye, K, Chern Lim, S, Torres, MC, Marty, M, Savva, E, Zhao, T, Massey, S, Murgia, A, Gold, WA, & Christodoulou, J. Expanding the genetic landscape of Rett syndrome to include Lysine (K) acetyltransferase 6A (KAT6A). Accepted in Journal of Genetics and Genomics. 23rd September 2020.
Media exposure2016 Reflections - Australian French Entrepreneurship Challenge-2016: https://www.mcri.edu.au/news/reflections-australian-french-entrepreneurs...
2018 Graduate Women Victoria: https://gradwomenvic.org.au/
2019 Franklin Women: https://franklinwomen.com.au/career-profile-simran-kaur/
2020 MCRI- Brilliant minds: https://www.mcri.edu.au/users/murdoch-childrens-media/blog/meet-our-bril...
2020 Study highlighted in Rett syndrome UK newsletter: https://rettsyndromenews.com/2020/01/17/dna-sequencing-identifies-unusua...
2020 Recent KIF1A-related study accepted as editor’s choice article and featured on cover image of Human Mutation Journal in their October 2020 issue (https://doi.org/10.1002/humu.24115).
2020 KIF1A study featured in Australian science news portal: Discovery in gene causing severe nerve conditions: • https://www.scimex.org/newsfeed/breakthrough-discovery-in-gene-causing-s...
• https://www.sciencedaily.com/releases/2020/10/201008142054.htm • https://medicalxpress.com/news/2020-10-breakthrough-discovery-gene-sever... • https://sciencecodex.com/breakthrough-discovery-gene-causing-severe-nerv... • https://bioengineer.org/breakthrough-discovery-in-gene-causing-severe-ne... • https://www.eurekalert.org/pub_releases/2020-10/mcri-bdi100620.php• https://www.kif1a.org/blog/sciencesaturday-october-10-2020/?fbclid=IwAR1... https://rettsyndromenews.com/2020/10/14/new-kif1a-gene-mutation-linked-r...