domingo, 25 de abril de 2010

Genomics in the Scientific Literature: A, B and C

Genomics in the Scientific Literature
Topics in the Scientific Literature

A. Cardiovascular Disease
Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK
Burton H, et al.
Public Health Genomics 2010;13(4):235-45

Public Health Genomics. 2010;13(4):235-45. Epub 2010 Apr 15.

Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK.
Burton H, Alberg C, Stewart A.

Foundation for Genomics and Population Health, Cambridge, UK.

Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders caused by mutations in the components of the electrical and contractile system of the heart or its vasculature. ICCs include arrhythmias, cardiomyopathies, inherited arteriopathies such as Marfan syndrome, muscular dystrophies, and familial hypercholesterolaemia. Epidemiological data on ICCs are sparse but a survey of the available literature suggests that there are approximately 340,000 prevalent cases of these conditions in the UK (population 61 million). As a result of dramatic advances in understanding of the molecular pathology of ICCs, more than 50 ICCs have been recognised, and diagnostic genetic tests are increasingly available. As part of a needs assessment and review of provision of ICC services, a survey of all UK ICC services was undertaken focusing on both quantitative and qualitative aspects. Service provision was found to be highly inequitable, with typically a 10-20-fold variation in referral and genetic testing rates between different UK regions. Service levels per million population are much higher in London than in all but one of the regions. The review concluded that capacity of services is inadequate to meet current or future demand and many services lack the critical mass to provide the full range of services. Recommendations are made for the development of services appropriate for the future. Services should be led by cardiology but have close links with clinical genetics services, which should provide support with specialist genetics advice and cascade testing. Finally, the international relevance of this review is considered. Copyright 2010 S. Karger AG, Basel.

PMID: 20395692 [PubMed - in process]

B. Chronic Disease
Genetic epidemiology of chronic kidney disease
Estrella MM, et al.
Curr Opin Nephrol Hypertens 2010 May;19(3):283-91

Curr Opin Nephrol Hypertens. 2010 May;19(3):283-91.

Genetic epidemiology of chronic kidney disease.
Estrella MM, Sperati CJ, Kao WH, Parekh RS.

Department of Medicine, Johns Hopkins School of Medicine, University Health Network and University of Toronto, Toronto, Ontario, Canada.

PURPOSE OF REVIEW: To provide a brief review of methods used in genetic epidemiology studies, an update of recent significant findings in genome-wide studies of kidney disease, and a discussion of the clinical implications of these findings. RECENT FINDINGS: Recent developments in genetic epidemiology methodologies, specifically the use of genome-wide panels of single nucleotide polymporphisms (SNPs) for association analyses, have yielded exciting insights into the underlying pathogenesis of chronic kidney disease and its progression. The two most notable and promising genetic discoveries are those of MYH9 and UMOD, both of which have been replicated in separate populations. SUMMARY: Genomic studies have the potential to yield exciting new areas of biological research, potential targets for treatment, and ultimately markers of disease risk. This review addresses recent genetic studies and their implications in chronic kidney disease care.

PMID: 20393286 [PubMed - in process]

C. Epigenomics
Pharmaco-epigenomics: discovering therapeutic approaches and biomarkers for cancer therapy
Claes B, et al.
Heredity 2010 Apr

Heredity. 2010 Apr 14. [Epub ahead of print]

Pharmaco-epigenomics: discovering therapeutic approaches and biomarkers for cancer therapy.
Claes B, Buysschaert I, Lambrechts D.

Vesalius Research Center, VIB and K.U.Leuven, Campus Gasthuisberg, Leuven, Belgium.

An important feature of cancer is dysregulation of gene activity and gene expression, which is driven by a combination of acquired genetic and epigenetic alterations. Here, we will highlight how insights into the epigenetic processes underpinning tumor biology have led to the emerging field of cancer pharmaco-epigenomics. First, we will discuss how interference with the epigenetic machinery in cancer is leading to novel promising therapies, with several DNA methyltransferase and histone deacetylase inhibitors being approved for cancer treatment. Second, we will discuss how epigenetic markers in cancer may increasingly be used as complementary diagnostic tools, prognostic markers of disease progression, and predictive markers of treatment response. Although the anti-tumoral activities of epigenetic therapies have thus far been attributed to reactivation of silenced tumor-suppressor and/or apoptotic genes, they may also influence the tumor environment by directly affecting stromal cells. As an example, we will discuss how tumor-endothelial cells are regulated at the epigenetic level and are affected by methyltransferase and histone deacetylase inhibitors.Heredity advance online publication, 14 April 2010; doi:10.1038/hdy.2010.42.

PMID: 20389307 [PubMed - as supplied by publisher]

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