Clare van Eyk

Dr Clare van Eyk

Externally-Funded Research Fellow (B)

Adelaide Medical School

Faculty of Health and Medical Sciences

Eligible to supervise Masters and PhD - email supervisor to discuss availability.


Dr van Eyk is a Research 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.

INSPIRE article - A genetic diagnosis enables precision medicine for cerebral palsy.

 

CURRENT RESEARCH STUDIES:

1. Genomic testing pathways for precision health in 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. 

Read more about this research here: https://issuu.com/researchaustralia/docs/ra0077_inspire_dec23_final/26

 

2. 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.

For more information, see https://www.australiangenomics.org.au/research/the-rare-disease-collective/

 

3. 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

  • Appointments

    Date Position Institution name
    2024 - ongoing NHMRC-funded Research Fellow University of Adelaide
    2020 - 2023 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
    2024 Recognition ClinGen Significant Contributor Award ClinGen United States -
    2024 Award Robinson Research Institute 2024 Travel Award University of Adelaide Australia -
    2024 Award HDA MCR Publication Award 2023 University of Adelaide Australia -
    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 -
  • Education

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

Cerebral Palsy Alliance Research Foundation Emerging Researcher Grant (2024-2026): Understanding epilepsy in young people with cerebral palsy; CI: Cooper, M.; AIs: Loveday, S., Macdonald-Laurs, E., Fahey, M., van Eyk C.; TOTAL AMOUNT AWARDED: $92,650

MRFF Genomics Health Futures Mission (2024-2027): Genomic testing pathways for precision health in cerebral palsy; Gecz, J., van Eyk, C., Fahey, M., Novak, I., Morgan, C., Boyd, R., Dale, R., Rice, J., Poulton, C., McIntyre, S., Garrity, N., Comans, T., Valentine, J., Badawi, N., Friend, K.; TOTAL AMOUNT AWARDED: $2,956,614

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; Richards, Robert; 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
    2024 Co-Supervisor Identification and Characterization of Genetic Determinants of Neurodevelopment Doctor of Philosophy Doctorate Full Time Miss Saadia Maryam Saadi
  • Past Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2020 - 2024 Co-Supervisor Assessment of Post-Zygotic Mosaic Mutations in Cohorts with Neurodevelopmental Disorders 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 Principal 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
  • Committee Memberships

    Date Role Committee Institution Country
    2022 - ongoing Member Robinson Research Institute EMCR Council University of Adelaide Australia
  • Memberships

    Date Role Membership Country
    2024 - ongoing Co-Chair ClinGen Cerebral Palsy Gene Curation Expert Panel United States
    2023 - ongoing Member Healthy Developmental Adelaide Australia
    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 -
  • Event Participation

    Date Event Name Event Type Institution Country
    2024 - ongoing Workshop Convenor - European Genetics Meeting 2024 Conference European Society of Human Genetics -
  • Presentation

    Date Topic Presented at Institution Country
    2024 - ongoing Development of gene panels to enable clinical genomic testing for people with cerebral palsy AusACPDM 2024 Conference Australasian Academy of Cerebral Palsy and Developmental Medicine Australia
    2024 - ongoing Genetic Causal Pathways to Cerebral Palsy: Insights and Implications Genomics symposium at AusACPDM Conference 2024 Australasian Academy of Cerebral Palsy and Developmental Medicine Australia
    2023 - 2023 Defining the genetic etiology of cerebral palsy: Systematic reanalysis of genomic data from the Australian Cerebral Palsy Biobank cohort International Congress of Genetics Melbourne Convention Centre Australia
    2023 - 2023 Systematic reanalysis of genomic data from the Australian Cerebral Palsy Biobank Cohort European Society of Human Genetics Annual Meeting, Glasgow Scotland Glasgow SEC United Kingdom
    2023 - ongoing Cerebral palsy genes 5th International Cerebral Palsy Genomics Consortium annual meeting, Glasgow, Scotland Glasgow SEC United Kingdom
    2022 - ongoing CP Gene Panel Initiative - PanelApp Australia 3rd International Alliance of Academies of Childhood Disability 'Better Together' Conference, International Genomics Workshop Virtual 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
    2024 - ongoing Reviewer - NHMRC Investigator Grants Grant Assessment NHMRC Australia
    2024 - ongoing Review - Journal, Clinical Genetics Peer Review University of Adelaide -
    2023 - ongoing Reviewer - Journal of Medical Genetics Peer Review University of Adelaide -
    2021 - ongoing Reviewer, Journal: BMC Medical Genomics Peer Review University of Adelaide -
    2021 - ongoing Reviewer: Journal, Computational Biology and Chemistry Peer 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 -
  • Position: Externally-Funded Research Fellow (B)
  • 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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