A5026363319- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Child Nutrition and Feeding Issues
- Biochemical and Molecular Research
- Trypanosoma species research and implications
- Neurogenetic and Muscular Disorders Research
- Pediatric Hepatobiliary Diseases and Treatments
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- ATP Synthase and ATPases Research
- Chromatin Remodeling and Cancer
- Cellular transport and secretion
- Pancreatic function and diabetes
- Carbohydrate Chemistry and Synthesis
- Intestinal and Peritoneal Adhesions
The University of Sydney
2015-2025
Sydney Children’s Hospitals Network
2015-2025
Sydney Children's Hospital
2018-2025
Children's Hospital at Westmead
2014-2023
Wojskowy Instytut Medycyny Lotniczej
2022
Office of Adolescent Health
2021
Westmead Institute
2014
The Kids Research Institute Australia
1999-2006
The University of Western Australia
2006
Harry Perkins Institute of Medical Research
2006
Abstract Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between cost outcomes of WGS WES in a cohort with suspected disorders. was performed 38 WES-negative families derived from 64 family that previously underwent WES. For new diagnoses, contemporary reanalysis determined whether variants were diagnosable by original or unique to WGS. Diagnostic rates...
Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years age in Australia.In a cohort study, we analyzed 6 for patients detected by or diagnosis among >2 million infants born from 1994 1998 (1,017,800, all unscreened) and 2002 (461,500 screened, 533,400 recording intellectual physical condition, school placement, other medical problems, growth, treatment, diet, hospital admissions....
PurposeThe utility of genome sequencing (GS) in the diagnosis suspected pediatric mitochondrial disease (MD) was investigated.MethodsAn Australian cohort 40 patients with clinical features suggestive MD were classified using modified Nijmegen severity scoring into definite (17), probable and possible (6) groups. Trio GS performed DNA extracted from patient parent blood. Data analyzed for single-nucleotide variants, indels, structural variants.ResultsA definitive gene molecular made 15 cases...
Summary Rett syndrome is a rare neurodevelopmental disorder usually affecting females, and associated with mutation in the MECP 2 gene. Sleep problems occur commonly we investigated trajectories influences of age, treatments. Data were collected at six time points over 12 years from 320 families registered Australian Syndrome Database. Regression analysis was used to investigate relationships between sleep disturbances, type use treatment, latent class growth performed identify problem...
Study Design. Population-based longitudinal observational study. Objective. To describe the prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking into account influences age, genotype, ambulatory status. Summary Background Data. Scoliosis is most common orthopedic comorbidity syndrome yet very little known about its natural history influencing factors such as Methods. The infrastructure Australian Syndrome Database was used to identify all cases with...
Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) is essential for intracellular repair of NAD(P)HX. Here we present a series infants and children who suffered episodes febrile illness-induced neurodegeneration or cardiac failure early death. Whole-exome whole-genome sequencing identified recessive NAXD variants in each...
Abstract Rett syndrome (RTT) is a clinically defined disorder that describes subset of patients with mutations in the X‐linked MECP2 gene. However, there high degree variability clinical phenotypes produced by , even amongst classical RTT patients. In large‐scale screening project, this has been examined looking at effects mutation type, functional domain affected and X‐inactivation. Mutations have identified 60% study (25% whom were atypical), including 23 novel polymorphisms. More found...
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described 11 boys progressive encephalopathy: seven of nine affected sisters and two de novo. The authors report four novo occurrences: three pathogenic one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, abnormal motor control. should be assessed encephalopathy or more movements tone, intractable seizures.
We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review consensus an expert panel clinicians.
Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as Duplication syndrome. We have examined perinatal characteristics, early childhood development medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers clinicians on individuals syndrome associated disorders, was used data source. Data were available 56 cases (49 males...
Abstract This study compared the behavior profile of cases in Australian Rett Syndrome Database (ARSD) with those a British using Behavior Questionnaire (RSBQ) and then examined behavioral patterns as measured by RSBQ genetic status. There were 145 meeting criteria for first arm 135 second arm. Comparison scores obtained from cohorts indicated that was satisfactory measure describing behaviors (RS). Overall, there some differences among well‐known common mutations. Fear/anxiety more commonly...
Nemaline myopathy is defined by the presence of nemaline bodies, or rods, on muscle biopsy. Facial and bulbar weakness in cause chewing swallowing difficulties, recurrent aspiration, poor control oral secretions. This article discusses 5 patients (4 infants 1 adolescent) with who received dietary supplementation L-tyrosine (250 to 3000 mg/day). All 4 were reported have an initial decrease sialorrhoea increase energy levels. The adolescent showed improved strength exercise tolerance. No...