Externally-Funded Research Fellow (B)
Adelaide Medical School
Faculty of Health and Medical Sciences
Dr van Eyk is a Hospital Research Foundation Mid-career Fellow at the University of Adelaide where she co-leads the Australian Cerebral Palsy Biobank. Her research focuses on the contribution of genetic and epigenetic variation to cerebral palsy (CP) and other neurodevelopmental disorders using next generation sequencing technologies, including exome sequencing, genome sequencing, targeted gene panel sequencing, RNA sequencing and methylation sequencing, and the functional interpretation of these genetic findings using techniques including animal and cell models.
The pioneering work of the Adelaide CP Research Group utilising the internationally unique resource of the Australian Cerebral Palsy Biobank has debunked the assumption that cerebral palsy is always due to trauma or lack of oxygen at birth. Rather poor condition of a baby at birth often reflects a neurological defect originating from conception, with an underlying genetic cause identified in ~1/4 of individuals with cerebral palsy. This research is driving changes in diagnostic practice for cerebral palsy internationally, and has resulted in an explosion of studies seeking molecular and genetic markers, with the aim of identifying potential therapeutic targets and/or preventative strategies.
CURRENT RESEARCH STUDIES:
1. The Neurodevelopmental Disorder Twin study.
In this study, we are inviting monozygotic (identical) twins who are differently affected by one or more neurodevelopmental disorders (including cerebral palsy, autism spectrum disorder, intellectual disability and epilepsy) to participate. We want to understand the causes of the differences in these twin pairs.
We hope that this will help us to predict babies at risk of developing a neurodevelopmental disorder, so that doctors can more closely watch these babies develop and design better therapies or treatments for them. This project has been made possible thanks to funding from the Hospital Research Foundation.
For more information, please see https://health.adelaide.edu.au/neurodevelopmental-disorder-study
2. Integrated Omics of Cerebral Palsy.
Cerebral palsy (CP) is the most common motor disability in children, with prevalence of 1/700 in Australia and major economic and quality of life impacts. It is a heterogeneous disorder, diagnosed based on clinical criteria, not pathology or aetiology. Despite this, current care pathways are homogeneous. Perinatal asphyxia, once believed to be a leading cause of CP, has been shown to be responsible for <10% of cases. In contrast, monogenic causes are responsible for >25%, with >50% of these children likely to benefit from personalised medicine. In this project, we are systematically assessing genomic causes of CP in a clinically well-characterised Australian cohort with the aim of developing knowledge and tools for routine clinical diagnosis and to inform personalised care pathways for children with CP.
3. The missing heritability of rare disease
Despite the broad implementation of massively parallel sequencing, >50% of rare disease patients still remain without a diagnosis after clinical and research testing. This project applies a coordinated multi-institutional, multi-disciplinary approach to rare disease diagnosis, targeting those which remain unresolved due to biological (phenotypic variability, tissue-specific mosaicism and genetic modifiers), analytical (interpretation of variants) or technical (incomplete genomic analysis) factors. Taking advantage of improved bioinformatic pipelines, along with emerging technologies such as long-read genome and transcriptome sequencing and optical genomic mapping, this project aims to end the diagnostic odyssey for patients and their families. Novel mechanisms or genetic loci will be further investigated for pathogenicity utilising a range of functional genomic approaches.
Date Position Institution name 2020 - 2024 Hospital Research Foundation Mid-Career Fellow University of Adelaide 2016 - 2019 NHMRC Postdoctoral Research Officer University of Adelaide, Adelaide 2014 - 2016 Cerebral Palsy Alliance Research Foundation Fellow University of Adelaide, Adelaide 2013 - 2014 Postdoctoral Research Officer, ACCPRG University of Adelaide, Adelaide 2010 - 2013 NHMRC Postdoctoral Research Officer University of Adelaide, Adelaide
Awards and Achievements
Date Type Title Institution Name Country Amount 2023 Award Robinson Research Institute Travel Award University of Adelalaide Australia - 2021 Award Faculty of Health and Medical Sciences Emerging Leaders Development Award University of Adelaide Australia - 2020 Award University Award for Outstanding Achievement: Excellence in Research: An award for a team University of Adelaide Australia - 2020 Award Robinson Research Institute Paper of the Year Award University of Adelaide Australia - 2011 Award Postgraduate Academic Achievement Award, School of Molecular and Biomedical Science University of Adelaide Australia - 2011 Award All-round postgraduate achievement award, School of Molecular and Biomedical Science University of Adelaide Australia -
Date Institution name Country Title 2006 - 2010 University of Adelaide Australia PhD 2002 - 2005 University of Adelaide, Adelaide Australia BSc(Hons)
Year Citation 2022 van Eyk, C. L., Webber, D. L., Minoche, A., Perez-Jurado, L., Corbett, M., Gardner, A., . . . Gecz, J. (2022). Yield of clinically reportable genetic variants in cerebral palsy by whole genome sequencing. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 30 (pp. 59). SPRINGERNATURE.
MRFF Early to Mid-Career Researchers, Stream 2 (2023-2028): The missing heritability of human disease: discovery to implementation; Ravenscroft G; van Eyk C, Homan C, Deveson I, Clark M, Buckberry S, Kumar K, Jackson M, Venugopal P, Arts P, Sallevelt S; TOTAL AMOUNT AWARDED:($4,877,532)
MRFF Genomics Health Futures Mission (2022-2027): PERSYST: Pathogenic Evaluation of Recalcitrant Variants by Systematic Transactivation; Gecz J; Jolly L; van Eyk C; Pflueger C; Voineagu I; Hildebrand M; Scheffer I; Berkovic S; Barry S; Tan T; TOTAL AMOUNT AWARDED: $2,996,428
NHMRC Ideas Grant (2021-2024): A No Nonsense Approach to Genetic Disease; Gecz, J; van Eyk, C; Wilkinson, M; Jolly, L; Thomas, P; Corbett, M; Eyre, N; Aloia, A; TOTAL AMOUNT AWARDED: $1,122,760
Channel 7 Children’s Research Foundation Research Grant (2021-2022): Novel linkage to study childhood disability and the genetic and non-genetic causes of cerebral palsy; Berry J; van Eyk C; Gibson C; Pilkington R; Corbett M; Rice J; Mittinty N; Gecz J; MacLennan A; Lynch J; TOTAL AMOUNT AWARDED: $96,480
The Hospital Research Foundation Mid-career Fellowship (2020-2023): Genetic and epigenetic markers of neurodevelopmental disorders - a twin study; van Eyk, Clare Louise; TOTAL AMOUNT AWARDED: $480,000
Cerebral Palsy Alliance Research Foundation Research Grant (2019-2021): Uncovering the contribution of genetic mosaicism to cerebral palsy causation; van Eyk C, Gecz J, MacLennan A, Perez-Jurado L, Leventer R, Corbett M; TOTAL AMOUNT AWARDED: $140,000
Infrastructure funding Tenix Foundation, Administered by the Cerebral Palsy Alliance Research Foundation (2018-2021): The genetic origins of cerebral palsy; MacLennan, Alastair Harvey; Gecz, Jozef; van Eyk, Clare Louise; Corbett, Mark Adam; TOTAL AMOUNT AWARDED: $900,000
Cerebral Palsy Alliance Research Foundation Research Grant (2017-2019):Multi-omics investigations of cerebral palsy causation in discordant monozygotic twins and singletons; Gecz, Jozef; Craig, Jeffrey; MacLennan, Alastair Harvey; van Eyk, Clare Louise; Corbett, Mark Adam; TOTAL AMOUNT AWARDED: $261,442
NHMRC Project Grant (2016-2019): Genetic pathways to cerebral palsy; MacLennan, Alastair Harvey; van Eyk, Clare Louise; Corbett, Mark Adam; Newman, Morgan; Barnett, Christopher Patrick; Gecz, Jozef; Geschwind, Daniel; Kruer, Michael; Lardelli, Michael Trent; Russo, Remo N; Thompson, Suzanna Claire; Bent, Stephen; Smith, Nicholas; Broadbent, Jessica Louise;
TOTAL AMOUNT AWARDED: $1,314,158
Robinson Research Institute Investment for Success (2015); MacLennan, Alastair Harvey, van Eyk, Clare Louise; TOTAL AMOUNT AWARDED:$30,000
Cerebral Palsy Alliance Research Foundation Research Grant (2014-2016): Defining the role of genetic variations in cerebral palsy causation;
van Eyk, Clare Louise; Gecz, Jozef; MacLennan, Alastair Harvey; Geschwind, Daniel; TOTAL AMOUNT AWARDED: $298,996
National Ataxia Foundation - Post-Doc Fellowship Award (2013): A role for ADAR and TDP-43 RNA binding proteins as key mediators of toxicity in the autosomal dominant spinocerebellar ataxias; van Eyk, Clare Louise; Richards, Robert Ian;
TOTAL AMOUNT AWARDED: $35,000
Current Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2020 Co-Supervisor Genome and Epigenome Profiling of Disease-Discordant Monozygotic Twins for Cerebral Palsy Doctor of Philosophy Doctorate Full Time Miss Nandini Govindasamy Sandran
Other Supervision Activities
Date Role Research Topic Location Program Supervision Type Student Load Student Name 2020 - ongoing Co-Supervisor Identification and validation of predictive biomarkers for cerebral palsy The University of Adelaide Molecular and Biomedical Sciences Honours Full Time Evdoxia Lagonik 2019 - ongoing Co-Supervisor WHOLE-GENOME SEQUENCING OF MONOZYGOTIC TWINS DISCORDANT FOR CEREBRAL PALSY University of Adelaide Masters Biotech. Master Full Time Nandini Sandran 2015 - 2015 Principal Supervisor Functional validation of genetic variants for cerebral palsy University of Adelaide - Honours Full Time Mahalia Frank
Date Role Committee Institution Country 2022 - ongoing Member Robinson Research Institute EMCR Council University of Adelaide Australia
Date Role Membership Country 2022 - ongoing Member ClinGen Gene Curation Expert Panel - Cerebral Palsy United States 2021 - ongoing Member Expert Reviewer, PanelApp Australia Australia 2021 - 2021 Member 4th ICPGC meeting scientific committee member Australia 2021 - ongoing Member American Academy of Cerebral Palsy and Developmental Medicine United States 2021 - ongoing Member European Society of Human Genetics Austria 2019 - ongoing Member American Society of Human Genetics United States 2017 - ongoing Member International Cerebral Palsy Genomics Consortium Australia 2012 - 2013 Member Australian Society for Medical Research SA Scientific Meeting Committee - 2011 - 2013 Secretary Research Career Development Network Australia 2011 - 2013 Member Australian Society for Medical Research Australia 2011 - 2011 Member Marketing and Outreach Committee, School of Molecular and Biomedical Science, University of Adelaide - 2011 - 2011 Chair Open Day Committee, School of Molecular and Biomedical Science, University of Adelaide -
Date Topic Presented at Institution Country 2023 - 2023 Systematic reanalysis of genomic data from the Australian Cerebral Palsy Biobank Cohort European Society of Human Genetics Annual Meeting, Glasgow Scotland University of Adelaide United Kingdom 2023 - ongoing Cerebral palsy genes 5th International Cerebral Palsy Genomics Consortium annual meeting, Glasgow, Scotland University of Adelaide United Kingdom 2022 - ongoing CP Gene Panel Initiative - PanelApp Australia 3rd International Alliance of Academies of Childhood Disability 'Better Together' Conference, International Genomics Workshop University of Adelaide Australia 2021 - ongoing Redefining cerebral palsy as a (partly) genetic neurodevelopmental disorder 4th Annual Meeting of the International Cerebral Palsy Genomics Consortium ICPGC - 2021 - 2021 Yield of clinically reportable genetic variants in cerebral palsy by whole genome sequencing American Academy for Cerebral Palsy and Developmental Medicine Meeting 2021 AACPDM Canada 2021 - 2021 Yield of clinically reportable genetic variants in cerebral palsy by whole genome sequencing European Society of Human Genetics Annual Meeting ESHG - 2019 - 2019 Targeted resequencing identifies genes with recurrent variation in Cerebral Palsy American Society for Human Genetics Annual Meeting ASHG United States 2019 - 2019 Converging pathways in CP implicated by complementary genomics and transcriptomics 3rd International cerebral palsy genomics consortium (ICPGC) meeting, Anaheim, California ICPGC United States 2018 - ongoing Investigating a genetic basis for Cerebral Palsy AAS SA EMCR Brain Sciences Showcase SAHMRI Australia 2018 - 2018 Large-scale transcriptomic analysis of cerebral palsy patient cell lines reveals convergent molecular pathology Adelaide RNA special interest group University of Adelaide Australia 2017 - ongoing Transcriptomic analysis of cerebral palsy patient cell lines reveals convergent molecular pathology AGRF Next Generation Sequencing Special Interest Group AGRF Australia 2017 - 2017 Animal and cell models of Cerebral Palsy Inaugural Cerebral Palsy International Genomics Consortium Workshop ICPGC Australia 2016 - 2016 Uncovering the genetics of cerebral palsy: making sense of genetic heterogeneity HGSA SA Branch Annual Meeting HGSA Australia 2016 - 2016 Presentation in mini-symposium: "Cerebral palsy: New evidence of genetic causation: Future directions" International Conference on Cerebral Palsy and other Childhood-onset Disabilities EACD Sweden
Review, Assessment, Editorial and Advice
Date Title Type Institution Country 2021 - ongoing Reviewer, Journal: BMC Medical Genomics Journal Review University of Adelaide - 2021 - ongoing Reviewer: Journal, Computational Biology and Chemistry Journal Review University of Adelaide - 2021 - ongoing Assessment - Honours, Bachelor Health and Medical Sciences Thesis Review University of Adelaide - 2020 - ongoing Reviewer: Journal, Biological Psychiatry Peer Review University of Adelaide - 2019 - ongoing Reviewer: Journal, American Journal of Medical Genetics Peer Review University of Adelaide - 2018 - ongoing External assessor - NHMRC Project Grants Grant Assessment University of Adelaide - 2017 - ongoing Reviewer: Journal, Gene Peer Review University of Adelaide - 2016 - 2020 Grant review - Cerebral Palsy Alliance Grant Assessment University of Adelaide -
Connect With Me