Chiara Folland
A5002654030- RNA modifications and cancer
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Nuclear Structure and Function
- Cardiomyopathy and Myosin Studies
- Glycogen Storage Diseases and Myoclonus
- RNA Research and Splicing
- Biochemical and Molecular Research
- Plant biochemistry and biosynthesis
- RNA and protein synthesis mechanisms
- Cell Adhesion Molecules Research
- Cellular transport and secretion
- Muscle and Compartmental Disorders
- Hereditary Neurological Disorders
- Mitochondrial Function and Pathology
- Parkinson's Disease and Spinal Disorders
- Adipose Tissue and Metabolism
- Cardiovascular Effects of Exercise
- Tissue Engineering and Regenerative Medicine
- Genetic Syndromes and Imprinting
- Genetic factors in colorectal cancer
Harry Perkins Institute of Medical Research
2021-2025
The University of Western Australia
2021-2025
Brigham and Women's Hospital
2023
Boston Children's Hospital
2023
Broad Institute
2023
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited manifesting with ptosis, dysphagia and distal weakness. Pathologically it characterised by rimmed vacuoles intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified OPDM individuals Asian populations. None of these have been found affected non-Asian ancestry. this study we describe the identification expansions ABCD3 , ranging from 118 to 694 repeats, 35 across...
Summary Tandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but notoriously difficult to sequence using short-read techniques 1,2 . Most previous studies profiling tandem genome-wide have reduced the description each locus singular value length entire repetitive 3,4 Here we introduce comprehensive database 3.6 billion repeat allele sequences from over one thousand individuals HiFi long-read sequencing. We show previously identified...
Abstract Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety genetic disorders predispose rhabdomyolysis through different pathogenic mechanisms, particularly patients with recurrent episodes. However, cases remain without a diagnosis. Here we present six who presented severe rhabdomyolysis, usually onset teenage years; other features included history myalgia muscle cramps. We identified 10...
The extracellular matrix (ECM) has an important role in the development and maintenance of skeletal muscle, several muscle diseases are associated with dysfunction ECM elements. MAMDC2 is a putative protein its cell proliferation been investigated certain cancer types. However, participation physiology not previously studied. We describe 17 individuals autosomal dominant muscular dystrophy belonging to two unrelated families which different heterozygous truncating variants last exon...
ABSTRACT Individuals affected by inherited neuromuscular diseases often present with a specific pattern of muscle weakness, which can guide clinicians in genetic investigations and variant interpretation. Nonetheless, more than 50% cases do not receive diagnosis. Oculopharyngodistal myopathy (OPDM) is an manifesting particular combination ptosis, dysphagia distal weakness. Pathologically it characterised rimmed vacuoles intranuclear inclusions on biopsy. In recent years GCC • CCG repeat...
Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs second to third decade and characterised slowly progressive skeletal muscle weakness atrophy of proximal and/or distal muscles four limbs. There are rare cases symptomatic DYSF variant carriers. Here, we report a large family with dominantly inherited hyperCKaemia late-onset dystrophy.Genetic analysis identified co-segregating novel...
<h3>Objective</h3> Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene (<i>DMD</i>). Hypermethylated CGG expansions within <i>DIP2B</i> 5′ UTR are associated with an intellectual development disorder. Here, we demonstrate diagnostic utility of genomic short-read sequencing (SRS) and transcriptome to identify a novel <i>DMD</i> structural variant (SV) expansion patient DMD for whom conventional testing failed yield genetic diagnosis. <h3>Methods</h3> We...
Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated neurodevelopmental disorders congenital abnormalities. ATXN7L3 a component DUB module Spt-Ada-Gcn5 acetyltransferase (SAGA) complex two other related modules, it serves an obligate adaptor protein three ubiquitin-specific...
ABSTRACT Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentations. Heterozygous SPTAN1 are exemplary for this diversity with phenotypes spanning almost the entire spectrum. Methods Through international collaboration we identified 14 families genetically unsolved distal weakness unreported heterozygous...
Abstract Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and contractures, hypotonia, respiratory insufficiency. Biallelic variants in SELENON account for most cases of rigid syndrome, however, the underlying genetic cause some patients remains unexplained. In this study, we used exome genome sequencing to investigate basis without diagnosis. five from four unrelated families, identified biallelic HMGCS1...
Neuregulin 1 signals are essential for the development and function of Schwann cells, which form myelin sheath on peripheral axons. Disruption in nervous system can lead to neuropathy, is characterized by reduced axonal conduction velocity sensorimotor deficits. Charcot-Marie-Tooth disease a group heritable neuropathies that may be caused variants nearly 100 genes. Despite evidence many aspects cell development, previous studies have not reported neuregulin gene (NRG1) patients with...
Weakness of facial, ocular, and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants genes encoding triad proteins. Abnormalities structure function resulting disturbed excitation-contraction coupling Ca
Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss muscle function throughout body. It second most common recessive in individuals European descent present all populations. Accurate tools exist for diagnosing SMA from genome sequencing data. However, there are no publicly available GRCh38-aligned data panel or exome assays which continue to be used as first line tests neuromuscular disorders. This deficiency...
Cytochrome-c oxidase (COX) is part of the mitochondrial complex IV (CIV). COX deficiency usually associated with tRNA variants, and less frequently variants in assembly factors. Mutations subunits encoded by DNA nuclear are rare, likely because most them to very severe phenotypes early lethality. COX18, an factor CIV, has long been analyzed as a potential cause disease. To date, only one patient identified carrying homozygous missense variant neonatal encephalo-cardiomyopathy axonal sensory...
Weakness of facial, ocular and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants genes encoding triad proteins. Abnormalities structure function resulting disturbed excitation-contraction coupling Ca
Abstract Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and contractures, hypotonia, respiratory insufficiency. Biallelic variants in SELENON account for most cases of rigid syndrome, however, the underlying genetic cause some patients remains unexplained. We used exome genome sequencing to investigate basis without diagnosis. In five from four unrelated families, we identified biallelic HMGCS1...