Non-coding recurrent mutations in chronic lymphocytic leukaemia.

Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully understood. Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder. We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11.

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations.

Recent years have seen considerable progress in epidemiological and molecular genetic research into environmental and genetic factors in schizophrenia, but methodological uncertainties remain with regard to validating environmental exposures, and the population risk conferred by individual molecular genetic variants is small. There are now also a limited number of studies that have investigated molecular genetic candidate gene-environment interactions (G × E), however, so far, thorough replication of findings is rare and G × E research still faces several conceptual and methodological challenges. In this article, we aim to review these recent developments and illustrate how integrated, large-scale investigations may overcome contemporary challenges in G × E research, drawing on the example of a large, international, multi-center study into the identification and translational application of G × E in schizophrenia.

Reproductive medicine and the law: egg donation in Germany, Spain and other European countries.

This paper analyzes the key legal issues raised by Reproductive Medicine practiced in Europe, with special attention to the rules prevailing in countries such as Germany and Spain. Thus, the paper involves a detailed study of the regulation in force in those countries, comparing their solutions with the rules adopted in other EU countries. It also highlights the high risk of com-modification in oocyte donation.

[Ethical and legal principles for the activities of bioprospection in relation to human beings and the human genome].

During recent decades, bioprospecting has become an important field of research, which looks for development alternatives, entry into global (environmental) markets, and the subsequent obtention of benefits under sustainable development principles. However, there is still so much to discuss regarding the social and environmental impacts produced by this activity, as well as its main limitations. To this end, the Forum/round-table discussion, entitled "Bioprospección, Etica y Sociedad" was organised to take place on 28 March 2012 at the National University of Colombia.

[Cultural diversity and pluralism in the Universal Declaration on Bioethics and Human Rights].

The Universal Declaration on Bioethics and Human Rights represents a significant milestone in the history of Law, particularly in the application of International Law to an important area of human activity, namely the medical sciences, the life sciences and the technologies which, linked to both, can be applied to human relations. In parallel with this, and as will be analysed in this article, the Declaration has involved adopting a clear position regarding cultural diversity and pluralism in relation to Biomedicine. In this paper the author highlights the fact that perspectives have been opened which have hardly been explored concerning Biomedicine, such as the recognition of the value and respect which cultural diversity (multiculturalism), economic and social diversity deserve in relation to the issues covered by the Declaration, and the acceptance that the owners of the rights are not only individuals, but can also be groups.

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.

Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, characterized respectively by a high or low number of somatic hypermutations in the variable region of immunoglobulin genes. The molecular changes leading to the pathogenesis of the disease are still poorly understood.

Genetic privacy and non-discrimination.

The UN Inter-Agency Committee on Bioethics met for its tenth meeting at the UNESCO headquarters in Paris on 4-5th March 2011. Member organisations such as the WHO and UNESCO were in attendance alongside associate members such as the Council for Europe, the European Commission, the Organisation for Economic Co-operation and Development and the World Trade Organisation. Discussion centred on the theme "genetic privacy and nondiscrimination".

Predictivity, genetic tests and insurance law.

An increasing discussion today consists of whether emerging genetic tests will provide a powerful tool for individual risk assessments for the life, health, disability and accident policies underwritten by private insurance companies and what could be the consequences of this for the insurance contract system built throughout the last decades. Thus, access to such risk information will facilitate more precise actuarial premium assessments.

International network of cancer genome projects.

The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.

New legal developments in Xenotrasplantation: the Spanish approach.

Xenotransplantation, as a therapeutical technique consisting in the transplantation in human beings of organs, tissues and cells from animals, has given raise to important expectations in the scientific community so as to achieve an effective solution to the scarcity of human organs for alotransplantation. The present contribution establishes the legal framework existing in Spain which could be applicable in the field of Xenotransplantation.

Ethical, legal and social issues related to cell therapy.

The author analyses the implications of cell therapy from a legal study that regulates the use of embryonic material: the regulation of the obtaining of cells, of research with embryos and their research and therapeutic use. There is a detailed look at the provisions in the Convention on Human Rights and Biomedicine of the Council of Europe and concludes that "therapeutic cloning" is not prohibited in our legal regulation.

[Penal and non-penal legislative policy in relation to human biotechnology].

The Spanish legislator has introduced a set of legislative novelties in the field of human biotechnology or is about to do so. This will be done either through the reform of some laws or through the approval of new laws, that is, without previous regulatory references available. The greater part of these novelties turn on research with cells or cell lines of human origin, specifically those from human embryos and through the use of diverse techniques, such as reproductive cloning and non-reproductive ('therapeutic') cloning.

[The legal question of the obtention of human stem cells for biomedical research. Legislation policy considerations].

The future Law on Biomedical Research, whose draft bill has been approved by the Council of Ministers and that will soon begin its parliamentary process of approval, will regulate, among other matters, the research with embryos. Likewise, it will make a pronouncement on the so-called therapeutic cloning. This report makes a detailed analysis of different matters that must be borne in mind by the legislator in order to face the process of evaluation and approval of said Law in relation with the aforementioned matters.

Embryonic stem cell research and therapy: the need for a common European legal framework.

The possibility of obtaining stem cells from human embryos has given rise to an intensive legal and ethical debate. In this paper, attention is paid to the normative disparity and ambiguity in Europe. An argument for the need for a minimum legal harmonization is made; and a prudent and flexible way to reach this successfully is suggested.