A5015504090- Muscle Physiology and Disorders
- Neurofibromatosis and Schwannoma Cases
- Cardiomyopathy and Myosin Studies
- Genetics and Physical Performance
- Neurogenetic and Muscular Disorders Research
- Sports Performance and Training
- Meningioma and schwannoma management
- Cardiovascular Effects of Exercise
- Vascular Malformations Diagnosis and Treatment
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Nuclear Structure and Function
- Genetics and Neurodevelopmental Disorders
- Muscle metabolism and nutrition
- RNA Research and Splicing
- Hereditary Neurological Disorders
- Innovation, Technology, and Society
- Connective tissue disorders research
- Adipose Tissue and Metabolism
- Cellular transport and secretion
- Reading and Literacy Development
- Cerebral Palsy and Movement Disorders
- Neuroblastoma Research and Treatments
- Metabolism and Genetic Disorders
- Sociology and Education Studies
Murdoch Children's Research Institute
2016-2025
The University of Melbourne
2016-2025
Melbourne Genomics Health Alliance
2019-2025
University of the Sunshine Coast
2025
Royal Children's Hospital
2015-2024
Ontario Genomics
2019-2024
Digital Research Alliance of Canada
2019-2024
University of Wisconsin–Madison
2024
Hanover College
2024
The University of Texas Health Science Center at Houston
2021-2024
Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients whom genetic analysis has not returned a diagnosis.
<b>Objective: </b> To assess the frequency and severity of specific cognitive deficits in children with neurofibromatosis type 1 (NF1) a large unbiased cohort. <b>Methods: Extensive assessments were performed 81 NF1 ages 8 to 16 years their performance was compared that 49 unaffected sibling controls. <b>Results: Eighty-one percent had moderate severe impairment one or more areas functioning. Although 51% poorly on tasks reading, spelling, mathematics, learning disabilities (as defined by...
The primary muscle disorders are a diverse group of diseases caused by various defective structural proteins, abnormal signaling molecules, enzymes and proteins involved in posttranslational modifications, other mechanisms. Although there is increasing clarification the aberrant cellular processes responsible for these conditions, decisive factors secondary pathogenic cascades still mainly obscure. Given emerging roles microRNAs (miRNAs) modulation phenotypes, we searched miRNAs regulated...
Muscular dystrophies with reduced glycosylation of α-dystroglycan (α-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group autosomal recessive conditions which include wide spectrum clinical severity. Reported phenotypes range from severe congenital onset Walker–Warburg syndrome (WWS) structural brain and eye involvement, relatively mild adult limb girdle muscular dystrophy (LGMD). Specific syndromes were originally described in association mutations any one six...
Genomic sequencing is rapidly transitioning into clinical practice, and implementation healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to gathering evidence for wider adoption. We review the diversity of approaches current progress made UK, France, Australia, US...
Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital as group encompass great clinical and genetic heterogeneity so that achieving an accurate diagnosis has become increasingly challenging, even in the age next generation sequencing. In this document we review diagnostic features, differential considerations available tools for various CMD subtypes provide systematic guide to use these resources...
Over the past decade there have been major advances in defining genetic basis of majority congenital myopathy subtypes. However relationship between each myopathy, defined on histological grounds, and cause is complex. Many myopathies are due to mutations more than one gene, same gene can different muscle pathologies. The International Standard Care Committee for Congenital Myopathies performed a literature review consulted group experts field develop summary (1) key features common all...
A common nonsense polymorphism (R577X) in the ACTN3 gene results complete deficiency of fast skeletal muscle fiber protein α-actinin-3 an estimated one billion humans worldwide. The XX null genotype is under-represented elite sprint athletes, associated with reduced strength and performance non-athletes, over-represented endurance suggesting that increases at cost power generation. Here we report from Actn3 knockout mice displays force generation, consistent human association studies....
Polymerase I and transcript release factor (PTRF)/Cavin is a cytoplasmic protein whose expression obligatory for caveola formation. Using biochemistry fluorescence resonance energy transfer–based approaches, we now show that family of related proteins, PTRF/Cavin-1, serum deprivation response (SDR)/Cavin-2, SDR-related gene product binds to C kinase (SRBC)/Cavin-3, muscle-restricted coiled-coil (MURC)/Cavin-4, forms multiprotein complex associates with caveolae. This can constitutively...
Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group disorders often associated brain and eye defects in addition to dystrophy. Causative variants 14 genes thought be involved the glycosylation α-DG have been identified thus far. Allelic mutations these might also cause milder limb-girdle dystrophy phenotypes. Using combination exome Sanger sequencing eight unrelated individuals, we present evidence that guanosine diphosphate mannose...
To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. Aim: examine these sprint time in athletes. We collected a total 555 best personal 100-, 200-, 400-m times 346 sprinters large cohort Caucasian or African origin 10 different countries. Sprinters were genotyped for ID variants. On average, male with 577RR DD...
To establish reference values for isometric strength of 12 muscle groups and flexibility 13 joint movements in 1,000 children adults investigate the influence demographic anthropometric factors.A standardized reliable protocol hand-held fixed dynamometry ankle, knee, hip, elbow, shoulder musculature as well goniometry shoulder, cervical spine was performed an observational study investigating healthy male female participants aged 3-101 years. Correlation multiple regression analyses were to...
To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated.To translate whole-exome (WES) clinical practice for genetic diagnosis large cohort patients with limb-girdle muscular dystrophy (LGMD) whom protein-based analyses and targeted Sanger failed identify cause their disorder.We performed WES on 60 families LGMDs (100 exomes). Data analysis was between January 6 December 19, 2014, using xBrowse...
Critically ill infants and children with rare diseases need equitable access to rapid accurate diagnosis direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing 290 families whose critically were admitted hospitals throughout Australia suspected genetic conditions. The average time result was 2.9 d diagnostic yield 47%. We performed additional bioinformatic analyses transcriptome in all patients who remained undiagnosed. Long-read functional...