Genetics for paediatric radiologists
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MINISYMPOSIUM: IMAGING OF SKELETAL DYSPLASIA
Genetics for paediatric radiologists Schaida Schirwani 1 & Jennifer Campbell 1 Received: 11 August 2019 / Revised: 20 October 2019 / Accepted: 2 September 2020 / Published online: 22 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract An understanding of genetics and genomics is increasingly important for all clinicians. Next-generation genomic sequencing technologies enable sequencing of the entire human genome in short timescales, and are increasingly being implemented in health care systems. Clinicians across all medical specialties will increasingly use results generated from genomic testing to inform their clinical practice and provide the best quality of care for patients. These innovations are already transforming the diagnostic pathways for rare genetic diseases, including skeletal dysplasias, with an inevitable impact on the traditional roles of diagnosticians. This article covers the fundamentals of human genetics, mechanisms of genetic variation and the technologies used to investigate the genetic basis of disease, with a specific focus on skeletal dysplasias and the potential impact of genomics on paediatric radiology. Keywords Children . Deoxyribonucleic acid . DNA . Exome . Genetics . Genomics . Heredity . Imaging . Radiology . Skeletal dysplasias
Introduction Genetics has traditionally referred to the study of individual genes, whereas genomics is the study of an individual’s genome (complete DNA [deoxyribonucleic acid] sequence). Sequencing a genome generates a large amount of information, which potentially could be used to give a more comprehensive view of health and disease. Rapid advances in scientific knowledge and technology, along with the increased availability and affordability of sequencing technologies, mean that personalised medicine is becoming a reality with relevance across all medical specialties. In England, the 100,000 Genomes Project has led to the evolution of a National Genomic Medicine Service and a significant increase in access to whole genome sequencing [1]. Skeletal dysplasias are genetic disorders of the skeleton comprising a clinically and genetically heterogeneous group of conditions. The most recent (2015) version of the International Nosology and Classification of Genetic Skeletal Disorders [2]
lists 436 disorders, across 42 different groups. These result from mutations in one or more of 364 genes, when the genetic basis is known. Some of these disorders present during pregnancy, and some are lethal in the perinatal period. Others manifest in childhood or later. There has been a rapid increase in the identification of genes associated with skeletal dysplasias as a result of the advances in next-generation sequencing technologies [3, 4]. This is supported by accurate clinical and radiologic phenotyping that emphasise the role of the paediatric radiologist. The diagnosis of skeletal dysplasias is based on a combination of radiologic and clinical features and, increasingly, genetic or genomic tes
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