Monthly update
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7 August 2008A new birth cohort research facility is to be launched as a resource for the study of the effects of economic, social and biological factors on human behaviour. A collaborative venture between the Economic and Social Research Council (ESRC) and Medical Research Council (MRC), the £28.5 million facility is to be funded from the UK Department of Innovation, Universities and Skills (DIUS) science portfolio.
6 August 2008The UK’s Human Tissue Authority (HTA) has announced the launch of a public consultation process to get stakeholders’ views on its revised codes of practice and a new code of practice on research (see press release). Codes of practice 1-7 have been re-written and a new code of practice on research has been included on the basis of their experience over the past two years and feedback from stakeholders. They are not consulting on code of practice 8, which pertains to the import and export of human bodies, body parts and tissue as it was only published in May 2007. The new code of practice on research is specifically for those who store human tissue for research and provides advice and guidance on issues including licensing and consent requirements for tissue from both the living and deceased.
5 August 2008In a significant judgment on Thursday 31 July, Mr. Justice Kitchin of the UK High Court revoked a UK patent held by US pharmaceutical company Human Genome Science (HGS) over neutrokine alpha, a member of the ‘tumour necrosis factor’ (TNF) superfamily of proteins found to trigger inflammation in the body (reported by Financial Times). The patent was one of many such patents in relation to genes, proteins and human stem cells issued to biotech companies during the rush to map the human genome that began in the 1990s.
1 August 2008New research has identified new genetic variants associated with the disease schizophrenia, the most common major psychiatric disorder (affecting around 1 in 100 of the UK population), which causes altered perceptions of reality typified by delusions and hallucinations. Two large-scale international collaborative research studies by the International Schizophrenia Consortium (ISC) and SGENE Consortium, both published in the journal Nature, looked independently at copy number variations or CNVs (regions of deletions or duplications in the DNA sequence) in the genomes of several thousand patients with schizophrenia; CNVs have already been associated with the disease (see previous news).
31 July 2008Scientific and technical progress has led to the rapid rise in the number of genome wide association (GWA) studies and the identification of multiple gene-disease associations for common diseases. This has also resulted in the increasing commercial availability of tests to determine the presence or absence of gene variants that have shown an association with disease, although the clinical utility of many such tests is highly questionable (see previous news). Proponents of personalised genomics believe that information about genetic risk of common diseases has value as a tool for health. For example, it could potentially refine risk assessment and screening recommendations; the clinical utility of testing individuals for their genetic risk for breast cancer and its role in population screening has been discussed recently (see previous news).
29 July 2008Zinc-fingers are small DNA-binding proteins that mediate DNA-protein interactions within cells, playing an important role in regulation of DNA expression. Zinc-finger nucleases (ZFNs) are synthetic enzymes that combine zinc-finger peptide domains (which target the protein to attach to specific DNA sequences) and a nuclease domain that will cut double-stranded DNA at the point where the protein is bound. Importantly, ZFNs can be used to create specific genomic modifications via these sequence-specific DNA breaks, encouraging the insertion of new DNA sequences or targeting the region for inactivation or repair via normal cellular mechanisms.
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.