A5041553714- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Diabetes and associated disorders
- CRISPR and Genetic Engineering
- Peroxisome Proliferator-Activated Receptors
- Porphyrin Metabolism and Disorders
- Family Support in Illness
- Lipid metabolism and disorders
- Genetics and Neurodevelopmental Disorders
- Cancer, Hypoxia, and Metabolism
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- BRCA gene mutations in cancer
- Pneumonia and Respiratory Infections
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Amino Acid Enzymes and Metabolism
- Urinary Tract Infections Management
- RNA regulation and disease
- Folate and B Vitamins Research
- Cellular transport and secretion
- GDF15 and Related Biomarkers
- PARP inhibition in cancer therapy
- Lysosomal Storage Disorders Research
- Biochemical and Molecular Research
Victorian Clinical Genetics Services
2023-2025
Murdoch Children's Research Institute
2023-2025
The University of Melbourne
2025
Royal Children's Hospital
2020-2024
Paracelsus Medical University
2024
Salzburger Landeskliniken
2024
Northern General Hospital
1919
Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de novo synthesis pathway - KYNU, HAAO, and NADSYN1 have been identified humans with congenital malformations defined as deficiency disorder (CNDD). Here, we 13 further individuals predicted to be damaging, phenotypes ranging from multiple severe complete absence malformation. Enzymatic assessment variant...
Abstract Vitamin B 6 ‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases these disorders, biallelic PLPBP have been shown to cause form early onset vitamin epilepsy (EPVB6D). is thought play role homeostatic regulation , supplying PLP apoenzymes while limiting side‐reaction toxicity related excess unbound PLP....
Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-residing protein and reported to regulate function. The clinical importance of PYROXD2 has been unclear, little known the protein’s precise biological In present paper, we report biallelic variants in identified by genome sequencing patient with suspected disease. child presented acute neurological deterioration, unresponsive episodes, extreme metabolic acidosis,...
Obtaining a genetic diagnosis of primary mitochondrial disease (PMD) is often framed as diagnostic odyssey. Yet, even after receiving diagnosis, parents affected children experience ongoing therapeutic and prognostic uncertainty, considerable psychosocial challenges. Semi-structured interviews (N= 24) were conducted with 13 (aged 2-19 years) genetically confirmed PMD. Paternal (N=11) maternal (N=13) perspectives obtained, thematic analysis performed on all interviews. A was valuable...
Obtaining a genetic diagnosis of primary mitochondrial disease (PMD) is often framed as diagnostic odyssey. Yet, even after receiving diagnosis, parents affected children experience ongoing therapeutic and prognostic uncertainty considerable psychosocial challenges. Semi-structured interviews (N = 24) were conducted with 13 (aged 2–19 years) genetically confirmed PMD. Paternal 11) maternal 13) perspectives obtained, thematic analysis was performed on all interviews. A valuable empowering for...
Contiguous ABCD1/ DXS1357E deletion syndrome (CADDS) is a rare involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E). Only nine individuals with this diagnosis have been reported in the medical literature to date. Intragenic loss-of-function variants cause deafness, dystonia, cerebral hypomyelination (DDCH). Isolated pathogenic intragenic are associated most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD), single transporter deficiency,...
Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss function variants in one five known canonical genes involved chylomicron lipolysis and clearance-
Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile storage disease/Salla disease (SLC17A5 variants). Traditionally, UFSA has been measured using specific single-plex methodology in relatively small cohorts of patients with clinical symptoms suggestive these disorders. The use multiplex tandem mass spectrometry urine screening (UMSMS) meant that can be semi-quantitatively a much larger cohort being investigated suspected metabolic We...
This report presents a case of childhood Gaucher disease type 1, rare inherited metabolic disorder. Although the clinical symptoms were classical, histological findings in this atypical and initially led to diagnostic uncertainty. The pathognomonic finding on bone marrow is cells, which are lipid-engorged phagocytes secondary accumulation glucosylceramide. These cells typically demonstrate diffuse avid iron staining using Prussian blue stain. In case, although histiocytes seen abnormal,...