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25 July 2008The prevalence of a specific infectious disease typically varies in different populations; much of this variation may result from differing social and economic factors, but genetic factors that influence susceptibility and resistance to the infectious agent can also play a significant role, and are of obvious relevance to public health. For example, it has been known for a long time that cellular receptors play a role in viral entry, and that mutations in such receptors can confer increased resistance to infection by HIV-1. HIV-1 enters a type of white blood cell via interactions with the CCR5 surface receptor; around 1% of Caucasians are homozygous for a specific deletion in the CCR5 gene, which confers a significant degree of resistance to HIV-1 infection.
24 July 2008Genome wide association (GWA) studies have identified a number of genetic variants associated with common conditions such as cardiovascular disease, diabetes and obesity. Such research has also resulted in an increasing number of genetic tests to determine the presence or absence of such variants, and to some degree predict genetic risk for these common diseases, although the clinical utility of many such tests is non-proven (see previous news). The biological mechanisms through which such genetic variants contribute to risk and how risk data can be utilised to improve health is still unclear. Such information is potentially valuable for developing therapies, as well as improving public health interventions such as population screening programmes (see previous news).
21 July 2008Changing population demography, with an increase in the number of elderly people has led to an increased interest in identifying the factors which influence longevity and healthy aging. Past research into the genetic factors that influence longevity, identified a mutation which appears to be linked to a longer life span (see previous news). However, such mutations are rare, suggesting that other factors may also be involved. Studies have also revealed that many healthy elderly people do not develop conditions such as cardiovascular disease, stroke and diabetes, although they possess genes which increase their susceptibility to these conditions, suggesting the involvement of protective factors.
18 July 2008In an open letter published in Genome Biology, a multidisciplinary team of researchers from Stanford University have proposed ten principles to guide the use of racial categories in human genetics research [Lee et al. (2008) Genome Biology 2008, 9 (7), doi:10.1186/gb-2008-9-7-404]. The authors note that following the completion of the Human Genome Project, research exploring human genetic variation has intensified, leading to a debate on whether racial categorisation of genetic data is appropriate or whether it is “a pernicious reification of historically destructive typologies”.
16 July 2008An ethics task force from the European Society of Human Reproduction and Embryology (ESHRE) is to investigate the application of DNA chip (microarray) technology in embryo screening. Preimplantation genetic screening is used to identify significant chromosomal abnormalities in embryos created by in vitro fertilization (IVF) prior to implantation, with a view to establishing pregnancies with the healthiest embryos to minimize the risk of miscarriage. The British Fertility Society has recently published guidelines on this form of screening (see previous news), which are significantly different from prenatal genetic diagnosis (PGD), used for the definitive diagnosis of specific serious genetic disorders.
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10 July 2008The management of findings incidental to a research agenda involving human subjects is becoming an increasingly important issue, especially in the context of human genomic and genetics research. Studies involving human subjects result, in some instances, in unexpected findings unrelated to the original objectives of the research, such as the discovery of a tumour during a brain imaging study or misattributed paternity or parentage in a genetic family study. These discoveries, known as incidental findings, pose a dilemma for researchers, who must determine whether or not to disclose such information to the individual participant, whose health or well-being may be affected.
8 July 2008Introgen Therapeutics Inc. has become the first company to apply for FDA approval of a gene therapy drug to treat cancer (see press release). Although high profile gene therapy trials reported in the media have largely been for rare inherited diseases such as muscular dystrophy (see previous news), in fact two-thirds of all gene therapy treatments currently in clinical trials are for types of cancer (see Gene Therapy Clinical Trials Worldwide).
7 July 2008Sudden cardiac death (SCD) in younger athletes is typically the result of structural or electrical defects of the heart, many of which are the result of inherited (genetic) cardiovascular disorders. Unfortunately it is common for death to occur without any previous symptoms in apparently healthy athletes, which has led to the suggestion that screening, including physical examination, electrocardiography (ECG), and the taking of a family history, is advisable to prevent sudden cardiac death in this group. The cost effectiveness and utility of cardiovascular screening of athletes has been a subject of some debate, with the American Heart Association recommending against universal ECG screening in athletes whilst the European Society of Cardiology and the International Olympic Committee advocate it [Drezner JA, Khan K BMJ 2008;337:a309].
3 July 2008Regenerative medicine has continued to feature in the headlines recently. The European Science Foundation has announced plans to strengthen the research base in this area, which they define as “the development of stem cell therapies to restore lost, damaged, or ageing cells and tissues in the human body” (see press release). The new REMEDIC initiative, a five-year a research networking programme intended to facilitate information exchange and collaborative research, is supported by organisations from several European countries including Germany, Spain, Switzerland, Austria and the Netherlands. The Canadian government has announced funding of more than $100 million for the Canadian Cancer Stem Cell Consortium (see CBC news), which is to join with the California Institute for Regenerative Medicine (CRIM) in the US for a project on the role of cancer stem cells in disease development (see press release). CRIM has also announced a collaborative partnership with the Australian state of Victoria (see press release).
1 July 2008Health minister Lord Darzi has released his report on and strategy for the NHS in England, the NHS Next Stage Review, which is based around delivering quality of care; quality is defined as “clinically effective, personal and safe” (see report summary). It is suggested that that NHS funding for hospitals, GP practices and other bodies will depend on how well they are deemed to have provided accessible, high quality care by patients, although how this will be measured is not decided. This includes increased emphasis on improving health and preventing disease, including implementation of all recommendations from national expert committees for screening programmes.