Matilda Jackson
South Australia Pathology, Australian Genomics Health Alliance, The University of Adelaide, Flinders University
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · RNA Research and Splicing
0000-0001-7547-7653
About
Project manager of national clinical research study looking at understanding the genetic underpinnings of miscarriage, stillbirth and loss of pregnancy due to congenital anomalies.
South Australian state coordinator for national coordination, clinical and research network - Australian Genomics.
Highly driven past medical research scientist with comprehensive knowledge of neurodevelopment and subsequent effects of disease; specializing in intellectual disability, epilepsy, autism, dystonia and rare diseases (mucopolysaccharidosis). Additional experience in diabetes (alpha and beta cell development), therapeutic interventions (gene therapy, cell therapy, small chemical inhibitors, and neurosteroids) and the development and phenotypic evaluation of mouse models of human disease.
Employment
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SA Pathology Project Manager - Genomic Autopsy2019 - Present
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Australian Genomics SA State Coordinator2019 - Present
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The University of Adelaide Early Postdoctoral Researcher2014 - 2018
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SA Pathology Research Assistant2010 - 2010
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Abbott Pathology Specimen Reception and Data Entry2008 - 2010
Education
- 2010 - 2014
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University of Adelaide Honours2009 - 2010
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Flinders University Bachelor of Medical Science2006 - 2008
Projects & Funding
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Genomic Autopsy Study of Perinatal Death Australian Government - GHFM MRFF2019 - 2023
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Investigating how mutations in IQSEC2 cause intellectual disability and severe early onset seizures in children using a mouse modelling the knockout of Iqsec2 Channel 7 Children's Research Foundation2016 - 2016
Publications (21)
- A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence Save
- Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX) Save
- Investigation of current models of care for genetic heart disease in Australia: A national clinical audit Save
- Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders Save
- Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses Save
- Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females Save
- Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy Save
- Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice Save
- Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy Save
- Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis Save
- Substrate Deprivation Therapy to Reduce Glycosaminoglycan Synthesis Improves Aspects of Neurological and Skeletal Pathology in MPS I Mice Save
- Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy Save
- Reduced chondrocyte proliferation and hypertrophy contribute to delayed endochondral bone formation in murine mucopolysaccharidosis VII Save
- Establishing the phenotypic deficits in a mouse modeling the most frequently expanded polyalanine tract mutation in ARX contributing to intellectual disability and seizures Save
- Iduronidase transduced MSCs improve the behavioural deficits in Mucopolysaccharidosis type I mice with limited biochemical corrections Save
- Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells Save
- α-L-iduronidase transduced mesenchymal stem cells improve the behavioural deficits in Mucopolysaccharidosis type I mice Save
- α-L-iduronidase transduced mesenchymal stem cells improve the behavioural deficits in Mucopolysaccharidosis type I mice Save
- α-L-iduronidase transduced mesenchymal stem cells improve the behavioural deficits in Mucopolysaccharidosis type I mice Save
- Lentiviral-mediated gene therapy results in sustained expression of β-Glucuronidase for up to 12 Months in the Gusmps/mpsand up to 18 Months in the Gustm(L175F)Slymouse models of mucopolysaccharidosis type VII Save