DNA Methylation Profiles of GAD1 in Human Cerebral Organoids of Autism Indicate Disrupted Epigenetic Regulation during Early Development.

DNA methylation profiling has become a promising approach towards identifying biomarkers of neuropsychiatric disorders including autism spectrum disorder (ASD). Epigenetic markers capture genetic risk factors and diverse exogenous and endogenous factors, including environmental risk factors and complex disease pathologies. We analysed the differential methylation profile of a regulatory region of the GAD1 gene using cerebral organoids generated from induced pluripotent stem cells (iPSCs) from adults with a diagnosis of ASD and from age- and gender-matched healthy individuals. Both groups showed high levels of methylation across the majority of CpG sites within the profiled GAD1 region of interest. The ASD group exhibited a higher number of unique DNA methylation patterns compared to controls and an increased CpG-wise variance. We detected six differentially methylated CpG sites in ASD, three of which reside within a methylation-dependent transcription factor binding site. In ASD, GAD1 is subject to differential methylation patterns that may not only influence its expression, but may also indicate variable epigenetic regulation among cells.

Opportunities and disconnects in the use of primary research on schistosomiasis and soil-transmitted helminths for policy and practice: results from a survey of researchers.

Even with efforts to facilitate use of evidence in health policy and practice, limited attention has been paid to researchers' perspectives on use of their research in informing public health policy and practice at local, national, and global levels. We conducted a systematic literature search to identify published primary research related to schistosomiasis or soil-transmitted helminths, or both. We then surveyed corresponding authors. Results indicate differences by locations of authors and in conduct of research, especially for research conducted in low- and middle-income countries. Our findings exemplify disparities in research leadership discussed elsewhere. Researchers' perspectives on the use of their work suggest limited opportunities and 'disconnects' that hinder their engagement with policy and other decision-making processes. These findings highlight a need for additional efforts to address structural barriers and enable engagement between researchers and decision-makers.

Understanding perceptions on 'Buruli' in northwestern Uganda: A biosocial investigation.

BACKGROUND: An understudied disease, little research thus far has explored responses to Buruli ulcer and quests for therapy from biosocial perspective, despite reports that people seek biomedical treatment too late. METHODS AND FINDINGS: Taking an inductive approach and drawing on long-term ethnographic fieldwork in 2013-14, this article presents perspectives on this affliction of people living and working along the River Nile in northwest Uganda. Little is known biomedically about its presence, yet 'Buruli', as it is known locally, was and is a significant affliction in this region. Establishing a biosocial history of 'Buruli', largely obscured from biomedical perspectives, offers explanations for contemporary understandings, perceptions and practices. CONCLUSIONS/SIGNIFICANCE: We must move beyond over-simplifying and problematising 'late presentation for treatment' in public health, rather, develop biosocial approaches to understanding quests for therapy that take into account historical and contemporary contexts of health, healing and illness. Seeking to understand the context in which healthcare decisions are made, a biosocial approach enables greater depth and breadth of insight into the complexities of global and local public health priorities such as Buruli ulcer.

LOW PREVALENCE OF INTESTINAL SCHISTOSOMIASIS AMONG FISHERFOLK LIVING ALONG THE RIVER NILE IN NORTH-WESTERN UGANDA: A BIOSOCIAL INVESTIGATION.

Mass drug administration has been less successful as a technique for controlling intestinal schistosomiasis (S. mansoni) than anticipated. In Uganda, the mass distribution of praziquantel has been provided to populations at risk of infection since the early 2000s, but prevalence mostly remains high. This is the case, for example, at locations in north-western and south-eastern Uganda. However, there is a remarkable exception. Among Madi fishing populations and their immediate neighbours, living close to the border with South Sudan, the rate of infection has dropped dramatically. A parasitological survey carried out at twelve fishing sites in 2013 identified only three cases of S. mansoni among 383 adults tested. This article asks: why is the prevalence of S. mansoni so low among fisherfolk in northern Uganda? Taking a biosocial approach, it suggests that the mass distribution of drugs, free of charge, has had an impact. However, the low prevalence of infection cannot be attributed to this alone. Other important factors may also have contributed to the decline in infection. These include changing fishing livelihoods, local attitudes to public health interventions, access to water and sanitation facilities, hygiene practices and the use of anti-malarial treatments. Above all, the article highlights the importance of investigating both social and biological dimensions of infection simultaneously, and of recognizing the local complexities of sustainably treating this debilitating parasitic disease.

Making a livelihood at the fish-landing site: exploring the pursuit of economic independence amongst Ugandan women.

Qualitative life history data were used to explore the experiences of women who live at five fish-landing sites on Lake Victoria, Uganda. We explored what economic and social opportunities women have in order to try to understand why some women are more vulnerable to violence and other risks than others and why some women are able to create successful enterprises while others struggle to make a living. The ability of women to create a viable livelihood at the landing sites was influenced by a wide variety of factors. Women who had or were able to access capital when they arrived at the landing site to set up their own enterprise had a significant advantage over those who did not, particularly in avoiding establishing sexual relationships in order to get support. Being able to establish their own business enabled women to avoid lower paid and more risky work such as fish processing and selling or working in bars. The development of landing sites and the leisure industry may be having an impact on how women earn money at the landing sites, with the most desirable economic opportunities not necessarily being connected directly to fishing.