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Researchers ranked among top experts in children’s intellectual disability

Institute News
Friday, December 3, 2021 - 3:01pm

Six Murdoch Children’s Research Institute (MCRI) scientists have been ranked as some of the top experts in the world for intellectual disability.  

Professor John Christoudolou, Professor David Amor, Dr Claudine Kraan, Associate Professor David Godler, Professor Richard Leventer, and Professor Sylvia Metcalfe were named by Expertscape as among the top 1 per cent of scholars writing about intellectual disability over the past 10 years.  

Expertscape’s rankings have become widely recognised and respected in medical and scientific communities worldwide because the objective results are based on peer-reviewed publications in scientific journals. According to Expertscape, there was 94,770 published authors’ work on intellectual disability from 2011-2021.

Professor Christodoulou is a medical geneticist, genetic pathologist, clinical scientist and Director of the MCRI Genetics Theme. His focus is on the diagnosis and management of children with rare single-gene disorders and is internationally regarded for his research into Rett syndrome, a neurodevelopmental disorder for which there is currently no effective treatment.

Professor Amor leads MCRI’s Neurodisability and Rehabilitation Group and was formerly the Director of Victorian Clinical Genetics Services (VCGS). His research includes identifying genes for rare disorders, neurogenetics (which studies the role of genetics in the development and function of the nervous system), the genetics of intellectual disability and translation of new genetic technologies into clinical care.

Dr Kraan is a researcher in the MCRI Diagnosis and Development Group. Her research is focused on developing multi-modal methodologies to be used for research and clinical trials involving children with the genetic disorder Fragile X Syndrome, the most common cause of intellectual disability, and genetic intellectual disability disorders including Angelman and Prader-Willi Syndromes. She is also aiming to understand and treat Fragile X mental retardation (FMR1)-related disorders.

Associate Professor Godler heads the Diagnosis and Development Group at MCRI. His work centres on improved diagnosis, screening and a better understanding of chromosomal abnormalities and epigenetic disorders associated with intellectual disability and autism.   

Professor Leventer is a consultant paediatric neurologist and Director of the Brain Malformation Program at The Royal Children’s Hospital, Head of the MCRI Neuroscience Group and Leader of the MCRI Neurodevelopment Flagship. His opinion is widely sought for the review of clinical cases and the interpretation of MRI scans of children with brain malformations and other neurogenetic conditions.

Professor Metcalfe, who recently retired, was a biochemist, teacher and researcher with a focus on the social implications of genetics and genomics to inform the education of health professionals and the community. Her research covered understanding and decision-making about genetic testing, exploring diagnosis of genetic conditions and experiences of families living with genetic conditions.