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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.
• PhD scholarship - Australian Postgraduate Award, University of Melbourne (2016-2019)
• Gold Medal Award in Bachelors of Engineering in Biotechnology from Prime Minister, India (2007)
• “Scholarship for Toppers” Award by Panjab University, India (2005-2007)
• “Scholarship for Outstanding Academic Performance” by Central Board of Secondary Education, India (2006-2007)
Simran’s particular interest lies in discovering new disease genes in various neurological disorders and get further insights into their key role in disease progression with ultimate goal of testing new/available therapeutics to combat the toxicity of such genetic defects in various in-vitro/in-vivo disease models
- Identifying novel disease genes in mutation-negative patients of Rett Syndrome
Rett syndrome (RTT) is a rare, severe disorder of neuronal plasticity that predominantly affects girls. Although, 95% of classical and 60% of atypical RTT patients, have been found to carry mutations in the X-linked methyl-CpG-binding (MECP2) gene that encodes a transcriptional regulator protein, which is critical for normal brain development. For rest of the affected patients diagnosed clinically with RTT, the underlying genetic defect remain unknown. This project will focus on finding the novel disease genes in such cohort of patients using combination of targeted sequencing as well as next-generation sequencing techniques.
- Understanding the functional changes caused by the novel defected genes associated with various neurodevelopmental disorders
- R. Ghaoui FRACP, J. Palmio, J. Brewer, M. Lek, M. Needham, A. Evilä, P. Hackman, PH. Jonson, S. Penttilä, A. Vihola , S. Huovinen, M. Lindfors, R. L. Davis, L. Waddell, S. Kaur, C. Yiannikas, K. North, N. Clarke, D. G. MacArthur, C.M. Sue, B. Udd (2016) “Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy” Neurology. Volume 86(4). Pages 391-398.
- Roula Ghaoui, Sandra T. Cooper, Monkol Lek, Kristi Jones, Alastair Corbett, Stephen Reddel, Merrilee Needham, Christina Liang, Leigh .B. Waddel, Garth Nicholson, Gina O’Grady, Simranpreet Kaur, Royston Ong, Mark Davis, Carolyn M. Sue, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Nigel F. Clarke (2015) “Outcomes and lessons from translation of Exome Sequencing for diagnosis of Limb girdle muscular dystrophy “Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned” JAMA neurology. Volume 72(12), pages 1424-32.
- Macarena Cabrera-Serrano,Roula Ghaoui, Gianina Ravenscroft, Russell D. Johnsen, Mark R. Davis, Alastair Corbett, Stephen Reddel, Carolyn M. Sue, Christina Liang, Leigh B. Waddell, Simranpreet Kaur, Monkol Lek, Kathryn N. North, Daniel G. MacArthur, Phillipa J. Lamont, Nigel F. Clarke and Nigel G. Laing (2015) “Expanding the phenotype of GMPPB mutations” Brain. Volume 138, pages 836-844.
- Gina L. O’Grady, Heather A. Best, Emily C. Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akansha Kesari, Kathryn N. North, Biljana Ilkovski, Eric P. Hoffman, Nigel F. Clarke (2015) “Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine” European Journal of Human Genetics. Volume 23(6), pages 883-886.
- Manoj P. Menezes, Leigh Waddell, Guy M. Lenk, Simranpreet Kaur, Daniel G. MacArthur, Miriam H. Meisler, Nigel F. Clarke (2014). “Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease MHM 10-21.” Neuromuscular Disorders. Volume 8, Pages 666-670.
- W.A Gold*, S.L. Williamson*, S. Kaur, I.P Hargreaves, J.M Land, G.J Pelka, P.P.L Tam, J. Christodoulou (2014) “Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype” Mitochondrion. Volume 15, Pages 10–17.