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A/Professor Rick Leventer
Associate Professor Richard Leventer is a consultant paediatric neurologist at the Royal Children's Hospital and a Group Leader of Neuroscience Research within the Clinical Sciences theme of the Murdoch Childrens. He is an Associate Professor in the University of Melbourne Department of Paediatrics. Associate Professor Leventer was awarded his PhD on the topic of cortical malformations in 2007 which included research commenced whilst doing a Fellowship in the Brain Malformation Program at the University of Chicago with Professor William Dobyns and Professor David Ledbetter. He was President of the Australia and New Zealand Child Neurology Society from 2002 - 2007. He has authored over 140 publications and eight book chapters.
Associate Professor Leventer is Director of the Brain Malformation Program and Clinic at the Royal Children's Hospital and Murdoch Childrens Research Institute, which is a referral centre for children with brain malformations from Australia and New Zealand. He is responsible for a brain malformation database of over 2000 patients, which includes a repository of DNA and brain tissue samples stored with the Institute. He is the National Flagship Lead of the Australian Genomics Health Alliance Brain Malformations and Leukodystrophy Flagships.
Associate Professor Leventer is the Australian clinical representative on the Global Leukodystrophy Initiative, and co-leads the new Massimo's Mission develop better diagnostics, disease modeling and therapeutics for white matter disorders.
Associate Professor Leventer's opinion is widely sought for the review of clinical cases and the interpretation of brain MRI scans of children with brain malformations and other neurogenetic conditions. He is a valued collaborative researcher with colleagues throughout Australia, New Zealand, the USA and Europe. He is passsionate about education, particulalrly helping to upskill the paediatric workforce into the responsible use of genomic technologies.
- Neurologist, Department of Neurology, Royal Children's Hospital
- Honorary Research Fellow, Florey Neurosciences Institute
- Outstanding Clinical Science Research Award, Murdoch Childrens Research Institute
- Brain Research Foundation, Epilepsy Research Award
- Melbourne Children's Clinician Scientist Fellowship
- Brain malformations
- Neurogenetic diseases
- White matter disorders
- Magnetic resonance imaging
- Outcome from early brain injury
Brain malformation research
Brain malformations are disorders of brain structure and function that occur due to either genetic or environmental factors adversely affecting the development of the brain during pregnancy. These disorders include microcephaly, lissencephaly, grey matter heterotopia, agenesis of the corpus callosum, polymicrogyria and cortical dysplasia. Common symptoms include cerebral palsy, developmental delay and epilepsy. Associate Professor Leventer leads an active research program beginning in the clinic, which is aimed to understand the causes, outcomes and best treatments for these conditions. This research involves brain imaging using advanced MRI, gene discovery using next generation sequencing technologies and studies of outcome and function using clinical and neuropsychological measures. The team work closely with other campus partners from genetics, neuropsychology, clinical neurology and epilepsy surgery, as well as multiple national and international collaborators.
Leukodystrophies are disorders of the white matter or cabling networks of the brain. There are many types of leukodystrophies with variable clinical outcomes including developmental delay, muscle spasticity and occasional problems with the peripheral nerves to the legs and nerves to the eyes. Some leukodystrophies are mild and static, whilst others are progressive and degenerative. It is presumed that the majority of leukodystrophies are caused by genetic disorders, yet the precise genetic cause can only be found in ~50% of patients. This research aims to classify and understand the causes and outcomes of these conditions and to develop better means of diagnosis and treatment. The Neuroscience group are part of the Global Leukodystrophy InitiAtive (GLIA), a team of investigators from around the world determined to understand these conditions better and improve the lives of affected patients and their families.
For full list of publications see: https://www.ncbi.nlm.nih.gov/pubmed/?term=Leventer+R
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ and Leventer RJ. Second-hit DEPDC5 mutation limited to dysmorphic neurons in cortical dysplasia type IIA. Ann Clin Transl Neurol. 2019;6:1338-1344.
MacLennan AH, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Santos Ocaña C, van Eyk C, Badawi N, Kruer M, Wintle R, Jacobsson B, Amor DA, Mallard C, Pérez-Jurado L, Hallman M Gecz J. Finding a Genetic Cause should not change the Clinical Diagnosis of Cerebral Palsy. A consensus statement from the International Cerebral Palsy Genomics Consortium. J Child Neurol. 2019;34:472-476.
Stutterd CA, Dobyns WB, Jansen A, Mirzaa G, Leventer RJ. Polymicrogyria Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® Updated August 16, 2018.
Marsh APL, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, LesneF, Lukic V, Mcgillivray G, Mandelstam SM, McIlroy A, Méneret A, Mignot C, Morcom L, Odent S, Paolino A, Pope K, Riant F, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz O, Wood A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, de Villemeur TB, Sherr E, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Mutations in DCC cause Agenesis of the corpus callosum. Nature Genetics 2017;49:511-514.
Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Familial cortical dysplasia caused by mutation in the mTOR regulator NPRL3. Annals of Neurology 2016;79:132-7.
Parikh S, Bernard G, Leventer RJ, van der Knaap, Van Hove JL, Pizzino A, McNeill NH, MS; Helman G, Simons C, Rizzo, Patterson, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies. Mol Genet Metab, 2015;14:501-505.
Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ and Leventer RJ. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Ann Clin Trans Neurol, 2015;2:575-80.
Leventer RJ, Scerri T, Marsh APL, Pope K, Gillies G, Maixner W, MacGregor D, Harvey AS, Delatycki MB, Amor DJ, Crino P, Bahlo M, Lockhart PJ. Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. Neurology, 2015;84:2029-32.
Hunt D, Leventer RJ, Simons C, Taft R, the DDD study, Swoboda KJ, Gawne-Cain M, Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet, 2014;51:806-13.Jamuar SS, Lam AN, Kirchner M, D'Gama A, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Topcu M, Amrom D, Andermann E, Guerrini R, Mulley J, Scheffer I, Leventer RJ, Berkovic SF, Shen Y, B, Brain Malformation Study Group, Barkovich AJ, Sahin M, Bamshad M, Nickerson D, Shendure J, Poduri A, Yu T, Walsh CA. Somatic mutations in cerebral cortical malformations. NEJM, 2014;371:733-43.
Leventer RJ, Jansen FE, Mandelstam SA, Ho A, Mohamed I, Sarnat HB, Kato M, Fukasawa T, Saitsu H, Matsumoto N, Itoh M, Kalnins RM, Chow CW, Harvey AS, Jackson GD, Crino PB, Berkovic SF, Scheffer IE. Is Focal Cortical Dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia, 2014;55:e22-6.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D5, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, de Coo IMF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PWJ, Bevova M, Abbink TEM, van der Knaap MS, Wolf NI. Rare damaging DARS variants cause Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL), a novel disorder with striking resemblance to the DARS2-associated disease LBSL. AJHG, 2013;92,:774–780.
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam, S, Scheffer IE, Berkovic SF, Andermann E, Andermann F, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 2010; 133:1415-27.