Increasing the involvement of diverse populations in genomics-based health care-lessons from haemoglobinopathies.

Integrating genomic medicine into health care delivery poses significant challenges to health professionals. To draw clinical benefit from genomic information, there is a need to build an evidence-based relationship between genotype and the physical expression of that genomic information. The work presented here uses preliminary work in the field of haemoglobinopathies to address two important challenges: to ensure that health care professionals in low- and middle-income countries are actively involved in the processes that will support genomic medicine, and that equity and diversity concerns are met so that clinical services can have relevance across all population and sub-population groups.

Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012.

The 4th Biennial Meeting of the Human Variome Project Consortium was held at the headquarters of the United Nations Educational, Scientific and Cultural Organization (UNESCO) in Paris, 11-15 June 2012. The Human Variome Project, a nongovernmental organization and an official partner of UNESCO, enables the routine collection, curation, interpretation, and sharing of information on all human genetic variation. This meeting was attended by more than 180 delegates from 39 countries and continued the theme of addressing issues of implementation in this unique project.

Non-communicable diseases and health systems reform in low-and-middle-income countries.

There is growing evidence that non-communicable diseases (NCDs) are a major health and socio-economic issue in low- and middle-income countries (LMICs). According to World Health Organization (WHO) estimates, deaths from cardiovascular disease, cancer, chronic respiratory disease and diabetes accounted for 63 per cent of global mortality in 2008, of which 80 per cent was in LMICs. The NCD burden is projected to increase: by 2030, NCDs will be the greatest killer in all LMICs.

The Human Variome Project Beijing meeting.

The Human Variome Project Beijing Meeting, a joint meeting of the Human Variome Project Consortium and the Human Variome Project Chinese Node, was held in Beijing, 8th-12th of December, 2011. The aim of the Human Variome Project is to ensure that all information on genetic variation can be collected, curated, interpreted and shared freely and openly. The meeting officially welcomed the Human Variome Project Chinese Node as a partner of the Human Variome Project and focused on those areas where collaborations between China and the global Human Variome Project Consortium are required to develop and extend the coverage of international gene/disease specific databases.

DNA mismatch repair and Chk1-dependent centrosome amplification in response to DNA alkylation damage.

Centrosome amplification is frequently observed in tumor cells exposed to genotoxic stress, however the underlying mechanisms and biological consequences are poorly understood. Here, we show that the anti-metabolite and alkylating agent 6-thioguanine (6-TG) induces centrosome amplification resulting in the formation of multi-polar spindles when damaged cells subsequently enter mitosis. These aberrant, multi-polar mitoses are frequently resolved by asymmetric cell divisions causing unequal segregation of genetic material and cell death in one or both daughter products.