Adam Bournazos
The University of Sydney, Children's Medical Research Institute, UNSW Sydney, Kids Research
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Muscle Physiology and Disorders · Metabolism and Genetic Disorders
0000-0002-6464-4548
About
Translational research scientist specialising in the clinical application of RNA-Sequencing and Long-read sequencing technologies for rare disease diagnosis. Current active member of the ClinGen Sequence Variant Interpretation Splicing Subgroup and Limb Girdle Muscular Dystrophy Variant Curation Expert Panel. My research focuses on RNA-Seq analysis and clinical interpretation of splice-altering variants, and implementation of accredited RNA diagnostics into clinical practice to provide patients with greater access to RNA testing and empower clinicians managing their care.
Employment
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The University of Sydney Adjunct Lecturer2024 - Present
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Children's Medical Research Institute Postdoctoral Scientist2022 - Present
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Kids Research Postdoctoral Scientist2022 - 2022
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Children's Hospital at Westmead Senior Research Assistant2014 - 2022
Education
- 2018 - 2022
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University of New South Wales Bachelor of Science (First Class Honours)? - 2012
Projects & Funding
Projects & funding information is unavailable.
Publications (27)
- 'Missing' disease-causing variants in Alport syndrome. Save
- Sleep-Wake Dysregulation and Altered Melatonin in Neurofibromatosis Type 1 Save
- The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B) Save
- Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases Save
- Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort. Save
- RNA variant assessment using transactivation and transdifferentiation. Save
- Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Save
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma. Save
- SpliceVault predicts the precise nature of variant-associated mis-splicing. Save
- Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice. Save
- Clinical impact of whole-genome sequencing in patients with early-onset dementia. Save
- A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre. Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Save
- WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Save
- Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Save
- Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies. Save
- Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy. Save
- Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Save
- Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. Save
- Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy. Save