Posted on behalf of Ru Bains, assistant editor for Genome Medicine
Breast cancer is the most common cancer in women worldwide, and it is the second most common in both sexes combined, affecting over 1.3 million women and over 200,000 men every year. Survival rates vary across the globe and range from 40% in low-income countries to 60% and 85% in middle- and high-income countries, respectively. Differences in survival rates between high- and low-income countries is in part due to nationwide screening programmes in high-income nations, which have been very effective at detecting the disease at early stages.
Treatment guidelines for breast cancers vary across countries, but will involve one, or a combination of surgery, chemo-, …
In Spring/Summer 2014, Genome Medicine will publish a special issue focusing on Cancer Epigenomics, guest edited by Stephan Beck (University College London).
Large-scale sequencing and high-throughput ‘omic studies of a wide variety of cancers have revealed epigenomic variations, including DNA methylation, histone modification and mutations in genes involved in epigenetic regulation. These have provided mechanistic insights into cancer initiation and progression, and are revealing novel approaches and targets for therapeutic intervention.
This special issue aims to bring together translational findings in cancer epigenomics that have the potential to inform new approaches for screening, diagnosis, prevention and treatment of cancer.
The editors are now accepting submissions of Research, Method, Database, Software and Open Debate manuscripts. The deadline for …
Later this year, Genome Medicine will publish a new thematic series focusing on Participatory Medicine. This article collection will highlight how the implementation of high-throughput technologies such as genomics, transcriptomics, proteomics, and metabolomics is promoting a paradigm shift in healthcare. In this new concept of healthcare, clinician and patient are part of the same team. Patients are empowered by more available information, and take a more active and responsible role, while clinicians welcome them as knowledgeable partners in clinical practice.
The series will be launched in late 2013 and will be guest edited by Charles Auffray (European Institute for Systems Biology and Medicine, Lyon, France) and Leroy Hood (Institute for Systems Biology, Seattle, USA).
The editors are now …
Multiple diseases are covered by the umbrella of poorly understood etiology coupled to an exaggerated or misguided inflammatory response. At first sight, it might seem odd that conditions as different as rheumatoid arthritis and Crohn’s disease are grouped together, but a closer look reveals that although the affected tissue is different, there are actually many common pathogenic processes. A good example is the involvement of the pro-inflammatory cytokine TNF-alpha.
Monoclonal antibodies that target TNF-alpha, such as infliximab, are used in the treatment of both diseases. However, the efficacy of the treatment can vary, and some patients can undergo long periods of therapy with no observable benefit. What if it were possible to predict beforehand which patients will respond …
Back in 2009, as a fresh-faced young editor, I attended the second Cold Spring Harbor Personal Genomes meeting. Nowadays medical and individual genomes are 10-a-penny (well, not quite), but four years is a long time in genomic technologies and the atmosphere at that meeting was one of excitement and anticipation. I shared a room with Elizabeth Worthey, who was to publish the clinical genome that saved the life of a child later named as Nicholas Volker, while others spoke about genomic analyses of patients with Miller syndrome and melanoma that have also become classics of the medical genomics literature.
Many speakers at that meeting reported patient genome sequencing, but James Lupski’s talk in …
Each year, BioMed Central presents awards in recognition of top quality research published in its journals. The winners of the Microbiology, Immunology, Infection and Inflammation category award are Julia Oh (pictured) and her colleagues for their article ‘Shifts in human skin and nares microbiota in health children and adults’ published in Genome Medicine.
The judges agreed it was an outstanding article that makes an important contribution to the scientific field as well as being of interest to the general public.
The award was presented to Julia Oh at the American Society for Microbiology general meeting in May 2013. Julia and her co-authors were pleasantly surprised and honored when they were informed that their article …
The May issue of Genome Medicine features two articles that highlight the role of microbes in human health and disease as part of a recently launched thematic series on this exact topic. Charis Eng muses on the importance of maintaining a healthy microbiome to prevent disease and discusses how microbiome profiles could be used as a diagnostic tool for cancer. On a related topic, a study by Chris Boshoff and colleagues reveals that specific genetic alterations are associated with human papillomavirus (HPV) status in head and neck squamous cell carcinoma. Notably, HPV-positive tumors have more copy number alterations in the PI3 kinase pathway, which might be important for the interpretation of current …
The biotechnology company Myriad Genetics holds US and European patents on the breast cancer risk genes BRCA1 and BRCA2 and sells a diagnostic test based on these. The ethics, legality and scientific validity of these patents have been extensively debated, from the courts to the blogosphere, and on April 15th 2013, this topic is back in the limelight as the Supreme Court considers a legal challenge on the case.
Many other companies also hold gene patents, and the implications and controversies are wide-ranging. For example, they touch upon basic science – whether isolated DNA fragments are found as part of normal cellular and bodily processes and thus not patentable, as recently argued by Eric Lander, or whether …
Genome Medicine has published the first in a series of articles on “Proteomic applications in medicine”, guest edited by Sabine Bahn and Paul Guest (Cambridge University). The series aims to highlight progress and challenges in using proteomic techniques in order to gain clinical insight into disease establishment, progression, diagnosis and prognosis. Genome Medicine is now accepting research or methodology article submissions for inclusion in the series.
Guest et al. describe the technological advancements allowing biomarker research to move from discovery to validation, and eventually to the clinic in an introductory Editorial to the series. The importance of studying co-morbidities, and co-development of biomarkers with drugs is discussed.
Also in this issue, Stuart Cordwell and …
Accurate prenatal diagnosis is important to guide pregnancy and birth management, therapeutic strategies, and future family planning, but invasive diagnostic techniques are associated with a risk of miscarriage. Advances in next-generation sequencing have allowed the development of methodologies for non-invasive prenatal diagnosis (NIPD) from cell-free fetal DNA circulating in maternal blood.
There has been much discussion recently regarding moving NIPD to the clinic, and so far this technology has been mainly applied to detection of sex-linked, single gene and chromosomal abnormality disorders. A successful example is the detection of aneuploidies, as discussed in a Review and Open debate previously published in Genome Medicine. By contrast, using NIPD to diagnose complex diseases or those caused by de …