Genetic analysis of a candidate region for psychiatric illness on chromosone 4p

Psychiatric illnesses are debilitating conditions for those affected and place a significant burden on the National Health Service, the social services and the family. Here I describe genetic analysis, physical mapping and transcript mapping of a region of chromosome 4p that is linked to psychiatric illness, including bipolar and unipolar affective disorders and schizophrenia.I have studied four families that show linkage of psychiatric illness to chromosome 4p. Linkage was first observed in a large family, F22, segregating bipolar affective disorder (BPAD) and recurrent major depression (RMD). Subsequently, a smaller family, F59, segregating affective disorders (Blackwood et al, 1996a), and two families (F50 & F48) segregating schizophrenia (SCZ), schizoaffective disorder and BPAD confirmed this linkage.Previously, comparison of the haplotypes inherited with illness in each family allowed prioritisation of two sub-regions for detailed study. Minimal Region One (MR1) is defined by overlap of the disease chromosomes from three Celtic families (F22, F59 & F50). Minimal Region Two (MR2) is defined by the two largest families F22 and F48, as well as F50. The sequence available from the human genome sequencing project for these two regions is largely complete. Here, I describe an extension to the BAC map in the repetitive telomeric end of MR1. The telomeric end of MR1 is defined by a recombination event in an individual from F50. I mapped clones, designed markers and refined the position of the recombination breakpoint. I also refined the position of the recombination breakpoint at the centromeric end of MR1, as defined by a member of F59.I describe construction of a transcript map of MR land 2 using bioinformatics methods, RT-PCR and cDNA library screening. I then selected two candidate genes from this region: orphan g-protein-coupled receptor 78 (GPR78) and superoxide dismutase 3 (SOD3), for further study. Firstly, I identified SNPs in the genes from the linked families, and then carried out a preliminary association study on 95 SCZ in patients, 93 BPAD patients 95 controls. The linkage disequilibrium (LD) between the markers was measured and, using a low stringency significant p-value cut off, revealed a positive association in GPR78. SNPs were then tested on a larger population for association. This work adds to the case for studying the role of chromosome 4 in the genetic susceptibility to affective disorder

Footprints in time

This report presents the results of two projects examining Indigenous Children\u27s language development.AbstractThis report presents the results of administration of the Who Am I? and the Renfrew Word Finding Vocabulary Test for the LSIC Wave 2 data collection in 2009. Who am I? is a developmental assessment that requires the child to write their name, copy shapes, write letters, numbers and words in a small booklet, with simple instructions and encouragement from the interviewer. Who am I? is not language dependent and is suitable for children with limited English. The assessment takes about 10 minutes to complete and is suitable for preschool children and children in the first two years of school. The Renfrew Word Finding Vocabulary Test assesses children’s expressive vocabulary (compared, for instance, with the Peabody Picture Vocabulary Test, which is a test of receptive vocabulary). It assesses the extent to which pictures of objects, arranged in order of difficulty, can be named correctly. Most of the objects illustrated have no alternative names, so the responses of children can be quickly measured. The assessment contains 50 line-drawn pictures and is suitable for children aged 3-9 years. The assessments are being used as part of Footprints in Time, which is the name given to the Longitudinal Study of Indigenous Children managed by FaHCSIA.. Footprints in Time works with Aboriginal and Torres Strait Islander families from sites in Australia seeking their consent to participate in annual interviews to help better understand what impacts on their children’s lives over time. LSIC especially explores how Aboriginal and Torres Strait Islander children can be better supported to grow up strong and resilient, regardless of location

Introducing social and sustainable enterprise: changing the nature of business

This chapter introduces the volume, Social and Sustainable Enterprise: Changing the Nature of Business, which is edited by Sarah Underwood, Richard Blundel, Fergus Lyon and Anja Schaefer. The book draws together contemporary research contributions that seek to critically explore a range of issues in the specific context of social enterprise, sustainable entrepreneurship and social responsibility. Collectively, the chapters in this volume consider the challenges facing social enterprises globally, their environmental impact and the difficulties for policy makers in their efforts to tackle complex international environmental problems. The volume contributors draw on a range of research themes, methodological approaches and international contexts to enhance our understanding of the meaning, critical nature and value of social and sustainable enterprise development. Thus, this volume speaks directly to the core objectives of this book series by providing an opportunity for the ISBE [Institute for Small Business and Entrepreneurship] community of interest to challenge current thinking and create a research agenda for future inquiry

Adolescent Attitudes Towards Active Transportation: Bicycling in Youth in Retrospect from Adulthood

Bicycling as a form of ‘active transportation’ is an easy way to integrate physical activity into a person’s daily life. Bicycling in youth is especially beneficial because it provides physical activity at a time when youth obesity rates are soaring. Yet few studies have examined bicycling in adolescence. This study begins to fill that gap through an exploratory study of the formation of attitudes and practices regarding bicycling among residents of Davis, California, a mid-sized city in the United States where bicycling is normative. Participants, 25-65 years of age, responded to self-administered questionnaires and open-ended interview questions regarding their bicycling experience throughout their life course. In this paper, we focus on responses related to the “youth period”. Results showed that bicycling activity decreased during the youth period, as did positive attitudes towards bicycles and bicycling. High school youth, especially females, were particularly sensitive to negative images, even stigma, associated with bicycling. Bikes were abandoned for other modes of transportation, particularly walking and driving. To achieve a more bicycle-friendly society, communities must encourage bicycling and positive attitudes toward bicycling throughout the life course, particularly during the teen years when drop-off rates are high. This can be done by implementing bicycle promotion programs developed by and for teens as well as by implementing restrictive licensing or driving policies

Considering Vermont\u27s Future in a Changing Climate: The First Vermont Climate Assessment

The Vermont Climate Assessment (VCA) paints a vivid picture of a changing climate in Vermont and calls for immediate strategic planning to sustain the social, economic and environmental fabric of our state. The VCA is the first state-scale climate assessment in the country and speaks directly to the impacts of climate change as they pertain to our rural towns, cities and communities, including impacts on Vermont tourism and recreation, agriculture, natural resources and energy

Breast, Prostate, Colorectal, and Lung Cancer Incidence and Risk Factors in Women Who Have Sex with Women and Men Who Have Sex with Men: A Cross-Sectional and Longitudinal Analysis Using UK Biobank

Background: There is limited evidence about cancer incidence for lesbian, gay and bisexual women and men, although the prevalence of cancer risk factors may be higher. Aim. To describe cancer incidence for four common cancers (breast, lung, colorectal and prostate). Methods. This project used UK Biobank participant data. We explored risk factor prevalence (age, deprivation, ethnicity, smoking, alcohol intake, obesity, parity, and sexual history), and calculated cancer risk, for six groups defined based on sexual history; women who have sex exclusively with men (WSEM), or women (WSEW), women who have sex with men and women (WSWM); men who have sex exclusively with women (MSEW), or men (MSEM), and men who have sex with women and men (MSWM). Results. WSEW, WSWM, MSEM, and MSMW were younger, more likely to smoke, and to live in more deprived neighbourhoods. We found no evidence of an association between sexual history and breast, colorectal, or prostate cancer in age-adjusted models. Lung cancer incidence was higher for WSWM compared with WSEM, HR (95%CI) 1.78 (1.28–2.48), p = 0.0005, and MSWM compared with MSEW, 1.43 (1.03–1.99), p = 0.031; after adjustment for smoking, this difference was no longer significant. Conclusions. Sexual minority groups have a higher risk for lung cancer, due to greater exposure to smoking

Australian 15-year-old students living in an integrated world

Global competence is defined in the Programme for International Student Assessment (PISA) as a multidimensional capacity that encompasses the ability to examine issues of local, global and cultural significance; understand and appreciate the perspectives and worldviews of others; engage in open, appropriate and effective interactions across cultures; and take action for collective well-being and sustainable development (OECD, 2020). This report focuses on aspects of the global competence module in the PISA 2018 Student Questionnaire and the School Questionnaire. It examines aspects of data collected from student and principal self-reports from the Australian perspective. This report focuses on the similarities between students in Australia and a number of participating countries and economies, referred to as comparison countries, and similarly differences between principals in Australia and comparison countries. It also focuses on differences between students and in Australian states and territories, and between students from different demographic groups, regarding their attitudes, learning opportunities at school. The report also covers aspects of global competence from the perspective of schools and how schools promote global competence