DNA copy number variations – Do these big mutations have a big effect on cardiovascular risk?
- Authors: Prestes, Priscilla , Maier, Michelle , Charchar, Fadi
- Date: 2019
- Type: Text , Journal article , Editorial
- Relation: International Journal of Cardiology Vol. 298, no. (2019), p. 116-117
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- Description: In simple terms, copy number variations or CNVs are replications or deletions in the DNA which, in humans, changes it from the normal number of two gene copies. These CNVs are caused by inherited or de novo structural changes such as duplications, insertions or deletions of repeated portions of genetic material (Fig. 1). These duplications can vary from one to ten or more copies and range in size from 50 DNA base pairs to several million [1]. Since their discovery in 1987 by Nakamura et al. [2], when they were initially named variable number tandem repeats, many studies have investigated their association with rare and common human diseases. Throughout evolution, some of these changes in copy number were beneficial such as the globin gene number duplication, while others such as the CNVs that cause Huntington's disease were not. In 2004, two landmark studies by Iafrate et al. [3] and Sebat et al. [4] found that large-scale copy-number variations, ranging in size from 100 kb to 2 Mb are common throughout the human genome, and that a high proportion of them are in known genes. These findings roused several association studies between CNVs and disease
Updating the international research agenda for sport injury prevention
- Authors: Finch, Caroline
- Date: 2011
- Type: Text , Editorial , Journal article
- Relation: Injury Prevention Vol. 17, no. 4 (August 2011 2011), p. 217-218
- Relation: http://purl.org/au-research/grants/nhmrc/565900
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- Description: The International Olympic Committee's World Conference on Prevention of Injury and Illness in Sport, the third in a series of triennial international conferences, was held in Monaco in April 2011. This conference is now the leading research event for many sports injury prevention and sports medicine researchers, and was well attended by over 940 delegates from 85 countries. A particularly pleasing part of the programme was the large emphasis of a number of sessions (including a keynote, several symposia and proffered papers) on the primary prevention of sports injuries, particularly issues relating to the delivery, implementation and uptake of preventive measures in this important context of injury. Abstracts from this meeting have been published in the April Injury Prevention and Health Promotion issue of the British Journal of Sports Medicine (http://bjsm.bmj.com/content/45/4.toc) and online presentations are available for viewing at the conference website (http://www.ioc-preventionconference.org/).