Clare van Eyk

Dr Clare van Eyk

Hospital Research Foundation Fellow

Adelaide Medical School

Faculty of Health and Medical Sciences


Dr van Eyk is a current Hospital Research Foundation Mid-career Fellow at the University of Adelaide where she works with the Adelaide CP and Neurogenetics research groups. 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. She has co-authored the Adelaide CP group’s pioneering publications demonstrating a significant genetic component to CP (McMichael et al. 2015, Corbett et al. 2018, van Eyk et al. 2019) and collaborative studies which have followed (e.g. Jin et al. Nature Genetics 2020). She was lead investigator on the largest transcriptome study in patient-derived cell lines for any neurodevelopmental disorder to date (van Eyk et al. 2018) and the group's proof-of-principle study testing the clinical utility of a targeted gene panel for genetic diagnosis in CP (van Eyk et al. 2019). This work has led to a paradigm shift in understanding of CP aetiology, with a growing acceptance that there is an underlying genetic cause in many cases. Dr van Eyk is a founding member of the International Cerebral Palsy Genomics Consortium and collaborates with many international groups in projects seeking molecular and genetic markers for CP, with the aim of prevention or treatment of CP.

My research investigates the contribution of genetic and epigenetic variation to cerebral palsy and other neurodevelopmental disorders. This involves both identification of genetic variation using next generation sequencing technologies, and the functional interpretation of these genetic findings using various techniques including animal and cell models.

CURRENT RESEARCH STUDIES:

We are currently recruiting for 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

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  • Appointments

    Date Position Institution name
    2020 - 2022 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
    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
  • Education

    Date Institution name Country Title
    2006 - 2010 University of Adelaide Australia PhD
    2002 - 2005 University of Adelaide, Adelaide Australia BSc(Hons)
  • Research Interests

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  • Journals

    Year Citation
    2021 van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., . . . Gecz, J. (2021). Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. npj Genomic Medicine, 6(1).
    DOI
    2020 Pham, R., Mol, B. W., Gecz, J., MacLennan, A. H., MacLennan, S. C., Corbett, M. A., . . . Berry, J. G. (2020). Definition and diagnosis of cerebral palsy in genetic studies: a systematic review. Developmental Medicine and Child Neurology, 62(9), 1024-1030.
    DOI Scopus5 WoS5 Europe PMC4
    2020 Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., . . . Kruer, M. C. (2020). Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics, 52(10), 1046-1056.
    DOI Scopus21 WoS17 Europe PMC11
    2019 MacLennan, A. H., Lewis, S., Moreno-De-Luca, A., Fahey, M., Leventer, R. J., McIntyre, S., . . . Gecz, J. (2019). Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. Journal of Child Neurology, 34(8), 472-476.
    DOI Scopus31 WoS27 Europe PMC19
    2019 Eyk, C. L., Samaraweera, S. E., Scott, A., Webber, D. L., Harvey, D. P., Mecinger, O., . . . Richards, R. I. (2019). Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases. Human Molecular Genetics, 28(18), 3000-3012.
    DOI Scopus4 WoS3 Europe PMC2
    2019 van Eyk, C. L., Corbett, M. A., Frank, M. S. B., Webber, D. L., Newman, M., Berry, J. G., . . . Gecz, J. (2019). Targeted resequencing identifies genes with recurrent variation in cerebral palsy. npj Genomic Medicine, 4(1), 27-1-27-11.
    DOI Scopus7 WoS8 Europe PMC6
    2018 MacLennan, A. H., Kruer, M. C., Baynam, G., Moreno-De-Luca, A., Wilson, Y. A., Zhu, C., . . . Gecz, J. (2018). Cerebral palsy and genomics: an international consortium. Developmental Medicine and Child Neurology, 60(2), 209-210.
    DOI Scopus11 WoS10 Europe PMC7
    2018 Van Eyk, C., Corbett, M., Gardner, A., Van Bon, B., Broadbent, J., Harper, K., . . . Gecz, J. (2018). Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. Translational Psychiatry, 8(1), 88 -1-88 -10.
    DOI Scopus10 WoS12 Europe PMC7
    2018 Corbett, M., van Eyk, C., Webber, D., Bent, S., Newman, M., Harper, K., . . . Gecz, J. (2018). Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. npj Genomic Medicine, 3(1), 33-1-33-9.
    DOI Scopus12 WoS12 Europe PMC8
    2015 McMichael, G., Bainbridge, M., Haan, E., Corbett, M., Gardner, A., Thompson, S., . . . MacLennan, A. (2015). Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2), 176-182.
    DOI Scopus97 WoS83 Europe PMC61
    2013 Richards, R., Samaraweera, S., van Eyk, C., O'Keefe, L., & Suter, C. (2013). RNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases. Frontiers in Molecular Neuroscience, 6(SEP), 1-9.
    DOI Scopus10 WoS9 Europe PMC6
    2012 O'Keefe, L., Lawlor, K., Mcleod, C., Samaraweera, S., Van Eyk, C., & Richards, R. (2012). Pathogenic pathways of single- and double-stranded RNA toxicity in dominant expanded repeat neurodegenerative diseases. JOURNAL OF NEUROGENETICS, 26, 14-15.
    2012 Lawlor, K., O'Keefe, L., Samaraweera, S., van Eyk, C., & Richards, R. (2012). Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology. PLoS One, 7(6), 1-14.
    DOI Scopus9 WoS7 Europe PMC5
    2012 van Eyk, C., McLeod, C., O'Keefe, L., & Richards, R. (2012). Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease. Human Molecular Genetics, 21(3), 536-547.
    DOI Scopus18 WoS16 Europe PMC14
    2011 Lawlor, K., O'Keefe, L., Samaraweera, S., van Eyk, C., McLeod, C., Maloney, C., . . . Richards, R. (2011). Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases. Human Molecular Genetics, 20(19), 3757-3768.
    DOI Scopus42 WoS37 Europe PMC31
    2011 van Eyk, C., O'Keefe, L., Lawlor, K., Samaraweera, S., McLeod, C., Price, G., . . . Richards, R. (2011). Perturbation of the Akt/Gsk3-beta signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Human Molecular Genetics, 20(14), 2783-2794.
    DOI Scopus26 WoS24 Europe PMC20
  • Book Chapters

    Year Citation
    2018 van Eyk, C., Corbett, M., & Maclennan, A. (2018). The emerging genetic landscape of cerebral palsy.. In D. H. Geschwind, H. L. Paulson, & C. Klein (Eds.), Neurogenetics (Vol. 147, pp. 331-342). Elsevier.
    DOI Scopus9 Europe PMC3
    2013 Samaraweera, S., O'Keefe, L., van Eyk, C., Lawlor, K., Humphreys, D., Suter, C., & Richards, R. (2013). Modeling and analysis of repeat RNA toxicity in drosophila. In D. Hatters, & A. Hannan (Eds.), Tandem repeats in genes, proteins, and disease : methods and protocols (Vol. 1017, 1 ed., pp. 173-192). United States: Springer.
    DOI Scopus3 Europe PMC3
    2013 Samaraweera, S. E., O’Keefe, L. V., van Eyk, C. L., Lawlor, K. T., Humphreys, D. T., Suter, C. M., & Richards, R. I. (2013). Modeling and Analysis of Repeat RNA Toxicity in Drosophila. In Methods in Molecular Biology (pp. 173-192). Humana Press.
    DOI
    2012 van Eyk, C., & Richards, R. (2012). Dynamic mutations: where are they now?. In A. Hannan (Ed.), Tandem repeat polymorphisms: genetic plasticity, neural diversity and disease (Vol. 769, pp. 55-77). Austin, Texas: Landes Bioscience and Springer Science+Business Media.
    DOI Scopus8 WoS8 Europe PMC4

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 (2020-2022): 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

Biomed IIB - Secondary Instructor

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  • 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
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  • Memberships

    Date Role Membership Country
    2021 - ongoing Member European Society of Human Genetics Austria
    2019 - 2019 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
  • Presentation

    Date Topic Presented at Institution Country
    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, Computational Biology and Chemistry Journal 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
  • Position: Hospital Research Foundation Fellow
  • Phone: 83132455
  • Email: clare.vaneyk@adelaide.edu.au
  • Campus: North Terrace
  • Building: Adelaide Health and Medical Sciences, floor 8
  • Org Unit: Women's and Children's Health

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