Selected new reviews and commentaries, 3rd October 2007

3 October 2007

Uninformed consent? Nat Med. 2007 13(9):999. Editorial calling for updated regulations for obtaining informed consent from clinical trials subjects in the US, in particular making clear whether or not they are likely to benefit from the intervention, in addition to the risks of participation (PubMed).

Will genomics widen or help heal the schism between medicine and public health? Khoury MJ, Gwinn M, Burke W, Bowen S, Zimmern R (2007) Am J Prev Med. 33(4):310-7. Special article / review arguing that genomics, whilst having the potential to push clinical and public health medicine further apart, should rather be integrated into health care via strong partnerships between the disciplines, to maximise the population health benefits (PubMed).

Medicine. The future of personal genomics. McGuire AL, Cho MK, McGuire SE, Caulfield T (2007) Science 317(5845):1687. Policy forum piece on the potential applications of genomics in medicine during this current period of transition from specific diagnostic genetic tests to assays for genetic variants of individually mild and poorly understood effect. The authors call for clinical practice guidelines, since ‘only clinically meaningful genomic test results should be integrated into medical decision-making’ (PubMed).

Integrating physical and genetic maps: from genomes to interaction networks. Beyer A, Bandyopadhyay S, Ideker T (2007) Nat Rev Genet. 8(9):699-710. Review of approaches to building maps and networks of complex biological interactions (PubMed).

Translation matters: protein synthesis defects in inherited disease. Scheper GC, van der Knaap MS, Proud CG (2007) Nat Rev Genet. 8(9):711-23. Review of genetic diseases caused by mutations that affect mRNA translation, and the possible role of such mutations in more common forms of disease (PubMed).

Epigenetics: Perceptive enzymes. Ferguson-Smith AC, Greally JM (2007) Nature 449: 148-149.News and Views article on new research into how DNA methyltransferases are capable of a high degree of sequence specificity (PubMed).

Life as we know it. Nature 2007 449(7158): 1.Editorial emphasising the importance of studying and comparing the genomes of different species, rather than solely focusing on the human genome (PubMed).

Genomics. DNA duplications and deletions help determine health. Cohen J. (2007) Science 317(5843):1315-7. News focus article reviewing the role of genome copy number variations (CNVs) in human health ad disease (PubMed).

Animal-human hybrid-embryo research. Lancet 2007 370(9591):909. Editorial on the HFEA decision to allow the creation of human-animal hybrid embryos for stem cell research, praising the consultative process (PubMed).

Asthma Genetics: From Linear to Multifactorial Approaches. Guerra S, Martinez FD (2007) Annu Rev Med. Sep 10; [Epub ahead of print]. Review of recent advances in asthma geneticscalling for a new dynamic disease model, in which variance in genetic and environmental factors are linked with phenotypic traits (PubMed).

Genetics of Alzheimer's disease. A rapidly evolving field. Serretti A, Olgiati P, De Ronchi D (2007) J Alzheimers Dis 12(1):73-92. Review underlining the importance of understanding gene-environment interactions in order to predict the risk of disease (PubMed).

Recent advances in genetic analysis of multiple sclerosis: genetic associations and therapeutic implications. Niino M, Fukazawa T, Kikuchi S, Sasaki H (2007) Expert Rev Neurother. 7(9):1175-88. Review looking at progress in (and prospects for) research into the genetic and pharmacogenetic factors that affect MS and its treatment (PubMed).

Screening for familial hypercholesterolaemia. Calonge N, Guirguis-Blake J. (2007) BMJ 335(7620):573-4. Editorial saying that universal screening as proposed by Wald et al. in the same issue of the journal is not justified by current evidence (PubMed). See also previous news.

Mechanisms of Disease: the genetic basis of coronary heart disease. Kullo IJ, Ding K (2007) Nat Clin Pract Cardiovasc Med. 4(10):558-69. Review of current knowledge about genetic factors affecting heart disease risk, and future challenges in extracting useful information from genomic studies (PubMed).

The Declaration of Helsinki. Goodyear MD, Krleza-Jeric K, Lemmens T (2007) BMJ 335(7621):624-5. Editorial looking at the development, current status and value of this key declaration in research ethics (PubMed).

The long and winding road. Nature 2007 449(7161):377. Editorial calling for German researchers to continue debate on the use of human embryonic stem cells in research, despite claims that adult stem cells will be an adequate alternative, in the run up to a review of national stem cell laws (PubMed).

Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Wang W (2007) Nat Rev Genet. 8(10):735-48. Review on current understanding of the FA protein network and its role in the response to DNA damage (PubMed)

Splicing in disease: disruption of the splicing code and the decoding machinery. Wang GS, Cooper TA (2007) Nat Rev Genet. 8(10):749-61. Review looking at the role of mutations and polymorphisms that disrupt normal splicing in disease and disease susceptibility (PubMed).

Gene conversion: mechanisms, evolution and human disease. Chen JM, Cooper DN, Chuzhanova N, Ferec C, Patrinos GP (2007) Nat Rev Genet. 8(10):762-75. Review on the mechanisms and implications of gene conversion, including known associations with human genetic disease (PubMed).

Renal abnormalities and their developmental origin. Schedl A (2007) Nat Rev Genet. 8(10):791-802. Review looking at genetic defects in kidney and urinary tract development and function (PubMed).

How geneticists can help reporters to get their story right. Condit CM (2007) Nat Rev Genet. 8(10):815-20. Science and society perspectives piece on the role of the media in communicating scientific advances, and how geneticists can minimize inaccurate and inappropriate coverage of their research results, such as genetic determinism (PubMed).

Nature Reviews this month has a new MicroRNA collection of key reviews from 2004-7, all of which are freely available until the end of March 2008

How do we monitor the impact of genomics on population health? Online seminarprovided by the US CDC National Office of Public Health Genomics and National Center for Chronic Disease Prevention and Health Promotion (presentation).

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