Maternal experiences of ethnic discrimination and subsequent birth outcomes in Aotearoa New Zealand

Background Interpersonal discrimination experience has been associated with adverse birth outcomes. Limited research has evaluated this relationship within multicultural contexts outside the United States where the nature and salience of discrimination experiences may differ. Such research is important in order to help identify protective and risk factors that may mediate the relationship between discrimination experience and adverse birth outcomes. Methods Evaluated the relationship between perceived discrimination, as measured in pregnancy, with birth weight and gestation length among Māori, Pacific, and Asian women from Aotearoa New Zealand (N = 1653). Results Thirty percent of the sample reported some type of unfair treatment that they attributed to their ethnicity. For Māori women specifically, unfair treatment at work (β = − 243 g) and in acquiring housing (β = − 146 g) were associated with lower birth weight when compared to Māori women not experiencing these types of discrimination, while an ethnically motivated physical attack (β = − 1.06 week), and unfair treatment in the workplace (β = − 0.95 week), in the criminal justice system (β = − 0.55 week), or in banking (β = − 0.73 week) were associated with significantly shorter gestation. Conclusions Despite a high prevalence of discrimination experience among women from all ethnic groups, discrimination experience was a strong predictor of lower birth weight and shorter gestation length among indigenous Māori women only. Additional research is needed to better understand the risk and protective factors that may moderate the relationship between discrimination experience and adverse birth outcomes among women from different ethnic groups

Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics

Epigenetics is a mechanism that regulates gene expression independently of the underlying DNA sequence, relying instead on the chemical modification of DNA and histone proteins. Although environmental and genetic factors were thought to be independently associated with disorders, several recent lines of evidence suggest that epigenetics bridges these two factors. Epigenetic gene regulation is essential for normal development, thus defects in epigenetics cause various rare congenital diseases. Because epigenetics is a reversible system that can be affected by various environmental factors, such as drugs, nutrition, and mental stress, the epigenetic disorders also include common diseases induced by environmental factors. In this review, we discuss the nature of epigenetic disorders, particularly psychiatric disorders, on the basis of recent findings: 1) susceptibility of the conditions to environmental factors, 2) treatment by taking advantage of their reversible nature, and 3) transgenerational inheritance of epigenetic changes, that is, acquired adaptive epigenetic changes that are passed on to offspring. These recently discovered aspects of epigenetics provide a new concept of clinical genetics

Research approvals iceberg: how a 'low-key' study in England needed 89 professionals to approve it and how we can do better.

BACKGROUND: The red tape and delays around research ethics and governance approvals frequently frustrate researchers yet, as the lesser of two evils, are largely accepted as unavoidable. Here we quantify aspects of the research ethics and governance approvals for one interview- and questionnaire-based study conducted in England which used the National Health Service (NHS) procedures and the electronic Integrated Research Application System (IRAS). We demonstrate the enormous impact of existing approvals processes on costs of studies, including opportunity costs to focus on the substantive research, and suggest directions for radical system change. MAIN TEXT: We have recorded 491 exchanges with 89 individuals involved in research ethics and governance approvals, generating 193 pages of email text excluding attachments. These are conservative estimates (e.g. only records of the research associate were used). The exchanges were conducted outside IRAS, expected to be the platform where all necessary documents are provided and questions addressed. Importantly, the figures exclude the actual work of preparing the ethics documentation (such as the ethics application, information sheets and consent forms). We propose six areas of work to enable system change: 1. Support the development of a broad range of customised research ethics and governance templates to complement generic, typically clinical trials orientated, ones; 2. Develop more sophisticated and flexible frameworks for study classification; 3. Link with associated processes for assessment, feedback, monitoring and reporting, such as ones involving funders and patient and public involvement groups; 4. Invest in a new generation IT infrastructure; 5. Enhance system capacity through increasing online reviewer participation and training; and 6. Encourage researchers to quantify the approvals processes for their studies. CONCLUSION: Ethics and governance approvals are burdensome for historical reasons and not because of the nature of the task. There are many opportunities to improve their efficiency and analytic depth in an age of innovation, increased connectivity and distributed working. If we continue to work under current systems, we are perpetuating, paradoxically, an unethical system of research approvals by virtue of its wastefulness and impoverished ethical debate

Оценка качества образования на основе компетентностного подхода

В работе представлен практический опыт оценки качества образования в новом формате компетентностного подход

Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 53,174 individuals of European ancestry, we detect 17 genome-wide significant SNPs in eight loci. HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755), expression quantitative trait loci (eQTLs) (influencing GNG11, RGS6 and NEO1), or are located in genes preferentially expressed in the sinoatrial node (GNG11, RGS6 and HCN4). Genetic risk scores account for 0.9 to 2.6% of the HRV variance. Significant genetic correlation is found for HRV with heart rate (-0.74 < r(g) < -0.55) and blood pressure (-0.35 < r(g) < -0.20). These findings provide clinically relevant biological insight into heritable variation in vagal heart rhythm regulation, with a key role for genetic variants (GNG11, RGS6) that influence G-protein heterotrimer action in GIRK-channel induced pacemaker membrane hyperpolarization

Geographic Variation in Chin Shape Challenges the Universal Facial Attractiveness Hypothesis

<div><p>The universal facial attractiveness (UFA) hypothesis proposes that some facial features are universally preferred because they are reliable signals of mate quality. The primary evidence for this hypothesis comes from cross-cultural studies of perceived attractiveness. However, these studies do not directly address patterns of morphological variation at the population level. An unanswered question is therefore: Are universally preferred facial phenotypes geographically invariant, as the UFA hypothesis implies? The purpose of our study is to evaluate this often overlooked aspect of the UFA hypothesis by examining patterns of geographic variation in chin shape. We collected symphyseal outlines from 180 recent human mandibles (90 male, 90 female) representing nine geographic regions. Elliptical Fourier functions analysis was used to quantify chin shape, and principle components analysis was used to compute shape descriptors. In contrast to the expectations of the UFA hypothesis, we found significant geographic differences in male and female chin shape. These findings are consistent with region-specific sexual selection and/or random genetic drift, but not universal sexual selection. We recommend that future studies of facial attractiveness take into consideration patterns of morphological variation within and between diverse human populations.</p> </div

Ten Theses on the Subject of Biology and Politics: Conceptual, Methodological, and Biopolitical Considerations

In this chapter, I develop a set of concepts and methodological principles that researchers might draw on as they try to elucidate the processes by which the engagement of humans with their social worlds, material environments, and historical cultures results in the formation of a self in subject, corporeal, and biological dimensions. I forge a conceptual language and rules for analysis that may enable scholars to negotiate converging accounts of how the social norms, lived environments, and power relations through which people develop a sense of self are bound up with processes through which biological organisms compose and recompose themselves over time