A5000857707- Connective tissue disorders research
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Dermatological and Skeletal Disorders
- Genomic variations and chromosomal abnormalities
- Bone health and treatments
- Neurogenetic and Muscular Disorders Research
- Craniofacial Disorders and Treatments
- Congenital Diaphragmatic Hernia Studies
- Bone and Dental Protein Studies
- Genetic factors in colorectal cancer
- Prenatal Screening and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- Fibroblast Growth Factor Research
- Hip disorders and treatments
- Metabolism and Genetic Disorders
- Cleft Lip and Palate Research
- RNA modifications and cancer
- Osteoarthritis Treatment and Mechanisms
- Genetics and Neurodevelopmental Disorders
- Blood disorders and treatments
- Congenital heart defects research
- Skin and Cellular Biology Research
- Bone Metabolism and Diseases
- Pancreatitis Pathology and Treatment
Royal Children's Hospital
2014-2025
Murdoch Children's Research Institute
2016-2025
The University of Melbourne
2015-2024
Victorian Clinical Genetics Services
2014-2024
Victoria University
2003-2024
Hospital Research Foundation
2024
Seattle Children's Hospital
2021
University of Washington
2021
The Royal Melbourne Hospital
2007-2015
Baker Heart and Diabetes Institute
2015
The purpose of the nosology is to serve as a "master" list genetic disorders skeleton facilitate diagnosis and help delineate variant or newly recognized conditions. This 9th edition in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable genetically heterogenous listed separately we felt this was an unnecessary distinction. Thus overall number has decreased from 456 436 groups increased 42...
Abstract The application of massively parallel sequencing technology to the field skeletal disorders has boosted discovery underlying genetic defect for many these diseases. It also resulted in delineation new clinical entities and identification genes pathways that had not previously been associated with disorders. These rapid advances have prompted Nosology Committee International Skeletal Dysplasia Society revise update last (2015) version Classification Genetic Disorders. This newest...
Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding who should be considered for testing and when it performed to maximize clinical utility cost-effectiveness.
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation new disorders thanks to DNA sequencing technology. most significant change as compared previous versions is the adoption dyadic naming system, systematically associating a phenotypic entity gene it arises from. We consider this step forward more informative less prone errors than traditional use list...
Achondroplasia is a genetic disorder that inhibits endochondral ossification, resulting in disproportionate short stature and clinically significant medical complications. Vosoritide biologic analogue of C-type natriuretic peptide, potent stimulator ossification.
ARFAN SYNDROME (MFS) is an autosomal dominant connective tissue disorder caused by mutations in FBN1, the gene encoding fibrillin 1. Fibrillin 1 a key component of extracellular matrix elastic fibers and also negative regulator cytokine transforming growth factor  (TGF-), which contributes to metalloproteinase (MMP) activation degeneration. 1The main clinical manifestations MFS involve skeletal, ocular, cardiovascular systems.Progressive aortic stiffening, dilatation, rupture are most...
Defects in cilia formation and function result a range of human skeletal visceral abnormalities. Mutations several genes have been identified to cause proportion these disorders, some which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the genes, as well more detailed analysis underlying developmental defects. The short-rib polydactyly (SRP) group disorders among most severe phenotypes caused by dysfunction. We mapped disease locus from two siblings affected...
We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX ) mutations, a rare cause of Kabuki syndrome ( KS2 , MIM 300867) report, for the first time, germ‐line missense splice‐site mutations in gene. demonstrate that less than 5% cases are due to mutations. Our work shows similar commoner Type 1 KS1 147920) caused by KMT2D (previously called MLL2 characterized hypotonia feeding difficulties during infancy poor postnatal growth short stature. Unlike developmental delay...
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, stiffness. PSACH the largest proportion of autosomal dominant MED (AD-MED) results from mutations cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous can also result matrilin-3 (MATN3) type IX collagen (COL9A1, COL9A2, COL9A3). In contrast, recessive (rMED) appears to exclusively sulphate transporter...
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC clinically distinct from other multiple or syndromes unlinked to EXT1 EXT2, the genes responsible for dominant osteochondromas (MO). To identify gene MC, we performed linkage analysis with high-density SNP arrays in single family, used targeted array capture exons promoter sequences linked interval 16 participants 11 families, sequenced captured DNA using...
Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates bone and development for treatment achondroplasia. This phase extension study was conducted document efficacy safety continuous, daily vosoritide children with achondroplasia, two-year results are reported.