Elena Savva
A5056893182- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- RNA Research and Splicing
- Peroxisome Proliferator-Activated Receptors
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- RNA regulation and disease
- Genomics and Phylogenetic Studies
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Cardiomyopathy and Myosin Studies
- Diabetes and associated disorders
- Lipid metabolism and disorders
Murdoch Children's Research Institute
2020-2024
Victorian Clinical Genetics Services
2020-2024
Royal Children's Hospital
2020
The University of Melbourne
2020
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-
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,...