Clare van Eyk

Research Interests

Developmental Genetics Neurogenetics Child and Adolescent Health Pregnancy and Birth

Dr Clare van Eyk

NHMRC Grant-Funded Research Fellow

School of Medicine

College of Health

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

Dr van Eyk is a Research Fellow in the Adelaide Medical School and Robinson Research Institute where she co-leads the Adelaide CP Research Group and associated 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

Date Position Institution name
2024 - ongoing NHMRC-funded Research Fellow University of Adelaide
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

Date Type Title Institution Name Country Amount
2025 Award Faculty of Health and Medical Sciences Career Coaching Award University of Adelaide Australia -
2024 Award 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 -

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

Year Citation
2025 Berry, J. G., Taranath, A., Goetti, R., Farrar, M. A., Fiori, S., Pham, H. -D., . . . van Eyk, C. L. (2025). Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.. EBioMedicine, 122, 106013.
DOI
2025 Contrò, G., Baroni, M. C., Caraffi, S. G., Napoli, M., Artuso, R., Giliberti, A., . . . Garavelli, L. (2025). CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. Clinical Genetics, 108(2), 10 pages.
DOI
2024 Sandran, N. G., Badawi, N., Gecz, J., & van Eyk, C. L. (2024). Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors. Seminars in Fetal and Neonatal Medicine, 29(2), 101551-1-101551-9.
DOI Scopus5 WoS5 Europe PMC3
2024 de Nys, R., Gardner, A. E., van Eyk, C., Tasheva, S., Thomas, P. Q., Bhattacharjee, R., . . . Gecz, J. (2024). Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway. Molecular Psychiatry, 29(7), 2199-2210.
DOI Scopus5 WoS5 Europe PMC4
2024 Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., . . . Oppermann, H. (2024). Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly. Hum Genet, 143(3), 455-469.
DOI Scopus2 WoS2 Europe PMC1
2024 Sandran, N. G., Fornarino, D. L., Corbett, M. A., Kroes, T., Gardner, A. E., MacLennan, A. H., . . . van Eyk, C. L. (2024). Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data. Genetics in Medicine, 26(10), 101220-1-101220-14.
DOI
2024 Nicolas-Martinez, E. C., Robinson, O., Pflueger, C., Gardner, A., Corbett, M. A., Ritchie, T., . . . Jolly, L. A. (2024). RNA variant assessment using transactivation and transdifferentiation. American Journal of Human Genetics, 111(8), 1673-1699.
DOI Scopus9 WoS9 Europe PMC9
2024 de Nys, R., van Eyk, C. L., Ritchie, T., Møller, R. S., Scheffer, I. E., Marini, C., . . . Gecz, J. (2024). Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. Translational Psychiatry, 14(1), 1-9.
DOI Scopus4 WoS4 Europe PMC3
2024 Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., . . . Gecz, J. (2024). Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature Communications, 15(1), 1210-1-1210-5.
DOI Scopus12 WoS11 Europe PMC8
2023 van Eyk, C., MacLennan, S. C., & MacLennan, A. H. (2023). All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing. JAMA Pediatrics, 177(5), 455-456.
DOI Scopus14 WoS14 Europe PMC12
2023 van Eyk, C. L., Fahey, M. C., & Gecz, J. (2023). Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology. Nature Reviews Neurology, 19(9), 542-555.
DOI Scopus34 WoS31 Europe PMC25
2023 Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., . . . Corbett, M. A. (2023). Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes, 14(8), 1565.
DOI Scopus4 WoS3 Europe PMC3
2023 Koop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., . . . van Hasselt, P. (2023). Macrocephaly and developmental delay caused by missense variants in RAB5C. Human Molecular Genetics, 32(21), 3063-3077.
DOI Scopus4 WoS4 Europe PMC5
2023 van Eyk, C., Berry, J., & Gecz, J. (2023). Genetic diagnosis enabling precision medicine for cerebral palsy. INSPIRE Magazine, (030), 30-31.
2022 Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., . . . Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351-2366.
DOI Scopus36 WoS37 Europe PMC32
2022 Kurolap, A., Kreuder, F., Gonzaga-Jauregui, C., Duvdevani, M. P., Harel, T., Tammer, L., . . . Baris Feldman, H. (2022). Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. The American Journal of Human Genetics, 109(3), 518-532.
DOI Scopus10 WoS10 Europe PMC13
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), 74-1-74-11.
DOI Scopus28 WoS30 Europe PMC28
2021 Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., . . . Kruer, M. C. (2021). Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal of Human Genetics, 108(10), 2006-2016.
DOI Scopus20 WoS17 Europe PMC20
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 Scopus31 WoS31 Europe PMC28
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 Scopus145 WoS129 Europe PMC120
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 Scopus106 WoS90 Europe PMC79
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 Scopus5 WoS4 Europe PMC5
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 Scopus29 WoS25 Europe PMC23
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 Scopus22 WoS19 Europe PMC16
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 Scopus26 WoS26 Europe PMC23
2018 Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., 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 Scopus43 WoS38 Europe PMC31
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 Scopus194 WoS162 Europe PMC142
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(25), 1-9.
DOI Scopus10 WoS9 Europe PMC8
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. Methods in molecular biology, 1017, 173-192.
DOI Scopus3 Europe PMC3
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 Scopus10 WoS7 Europe PMC8
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 Scopus24 WoS21 Europe PMC22
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.
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 Scopus46 WoS40 Europe PMC38
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 Scopus27 WoS25 Europe PMC24

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 Scopus27 Europe PMC15
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 Scopus11 WoS9 Europe PMC5

Year Citation
2024 Oppermann, H., Herbst, C., Wegler, M., Bothe, V., Sticht, H., Gecz, J., . . . Abou Jamra, R. (2024). Rare loss-of-function variants in DOCK4 lead to neurodevelopmental delay. In Abstracts from the 56th European Society of Human Genetics (ESHG, 2023) Conference as published in the European Journal of Human Genetics Vol. 32 (pp. P09.016.D-459). Glasgow, Scotland, UK: Springer Nature.
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.

Year Citation
2023 Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., . . . Oppermann, H. (2023). Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
DOI

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

The Hospital Research Foundation Mid-career Fellowship (2020-2024): Genetic and epigenetic markers of neurodevelopmental disorders - a twin study; CIA van Eyk, Clare Louise; TOTAL AMOUNT AWARDED: $600,000

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

Cerebral Palsy Alliance Research Foundation Research Grant (2019-2021): Uncovering the contribution of genetic mosaicism to cerebral palsy causation; CIA 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; CIA 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; CIA van Eyk, Clare; Richards, Robert; TOTAL AMOUNT AWARDED: $35,000

Date Role Research Topic Program Degree Type Student Load Student Name
2025 Principal Supervisor Defining mechanisms driving pathology in the genetic cerebral palsies Doctor of Philosophy Doctorate Full Time Rachel Tyler Hamant
2025 Principal Supervisor Defining mechanisms driving pathology in the genetic cerebral palsies Doctor of Philosophy Doctorate Full Time Rachel Tyler Hamant
2024 Co-Supervisor Identification and Characterization of Genetic Determinants of Neurodevelopment Doctor of Philosophy Doctorate Full Time Miss Saadia Maryam Saadi
2024 Co-Supervisor Identification and Characterization of Genetic Determinants of Neurodevelopment Doctor of Philosophy Doctorate Full Time Miss Saadia Maryam Saadi

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

Date Role Research Topic Location Program Supervision Type Student Load Student Name
2025 - ongoing Principal Supervisor Mitochondrial impairment in cerebral palsy University of Adelaide Masters Biotechnology (Biomedical) Master Full Time Surbhi Kamboj
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 Biomedical Science Honours Full Time Mahalia Frank

Date Role Committee Institution Country
2023 - 2023 Member Scientific Program Committee Member Internation Cerebral Palsy Genomics Consortium United Kingdom
2022 - ongoing Member Robinson Research Institute EMCR Council University of Adelaide Australia

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 -

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

Date Topic Presented at Institution Country
2025 - ongoing Unravelling the genetics of the cerebral palsies Illumina Industry Session, HGSA Annual Scientific Meeting Human Genetics Society of Australasia Australia
2025 - ongoing Who to Test and What Test to Do? Perspectives on Genomic Testing from the Australian Cerebral Palsy Biobank Cohort 7th International CP Genomics Consortium Scientific meeting International CP Genomics Consortium China
2025 - ongoing The Genetics of Cerebral Palsy Webinar Australasian Society of Diagnostic Genomics -
2024 - ongoing Genomic testing pathways for precision health in cerebral palsy Robinson Research Institute Research Symposium Robinson Research Institute -
2024 - ongoing The genetic aetiology of cerebral palsy: Insights from the Australian Cerebral Palsy Biobank Cohort Human Genetics Society of Australasia Annual Scientific Meeting HGSA Australia
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
2024 - 2024 Workshop: Diagnosing cerebral palsy - who to test and how to manage a clinical vs genetic diagnosis European Society of Human Genetics Meeting, Berlin, Germany ESHG -
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

Date Title Type Institution Country
2024 - ongoing Reviewer - Investigator Grants Grant Assessment NHMRC Australia
2024 - 2024 Reviewer - Channel 7 Children's Research Foundation Grant Assessment CRF -
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 -

Connect With Me

External Profiles

Other Links