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The article discusses the role played by epigenetics in the field of reproductive medicine. The natural times when developmental epigenetic reprogramming takes place in gametes almost matches the time of human assisted reproduction when the gametes and embryos are handled in an in vitro environemnt. Information is also given on genomic imprinting and in vitro culture of embryos.

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Fertility treatment enables involuntary childless people to have genetically related children, something that, for many, is a valuable life project. In this paper, I respond to two sets of objections that have been raised against expanding state‐funded fertility treatment provision for existing treatments, such as in vitro fertilisation (IVF), and against funding new treatments, such as uterine transplantation (UTx). Following McTernan, I refer to the first set of objections as the 'one good among many' objection. It purports that it is unjustifiable for the state to prioritise the funding of the life project of becoming a parent through fertility treatment provision over the funding of other life projects that people might have. Following Lotz, I refer to the second set of objections as the 'norm‐legitimation' objection. It maintains that the provision of costly forms of fertility treatment, such as UTx, would legitimise problematic social norms concerning genetic relatedness, reproduction and parenting, and that states should not engage in such a legitimation. In response to these objections, I defend the view that (reproductive) preferences ought to be taken more seriously when discussing fertility treatment provision and parental projects, and that not doing so can be costly, especially for women. The approach defended in this paper seeks to avoid disregarding and policing preferences and to reconcile their fulfilment with political projects aimed at improving the material and social conditions of sub‐fertile people: people who, for social or biological reasons (or an intersection of the two), are unable to reproduce unassisted. [ABSTRACT FROM AUTHOR]

The first section of this paper sets the record straight regarding many of Debouwere's (2024, Review of Education, 12, e3445) specific criticisms. The second section discusses the magnitude of the SES‐achievement relationship, specifically Debouwere's (2024) contention that the correlation is strong around 0.5 or 0.6 compared to observed correlations mostly between 0.2 and 0.3. The third section deals with five issues that Debouwere (2024) raises in his paper: (1) the stability of SES vis‐à‐vis cognitive ability; (2) the accuracy of children's reports of parents' socioeconomic characteristics; (3) whether teachers discriminate by students' SES; (4) the importance of cognitive ability for educational differentiation (i.e., tracking and streaming); and (5) SES effects on student achievement, controlling for prior achievement. The fourth section discusses the role of genetics in student achievement. Meta‐analyses and other studies indicate that about 50%–70% of the variance in student achievement is attributable to genetics (i.e., the heritability). The high heritability of student achievement accounts for its high stability, its strong correlations with cognitive ability and the weak effects of SES, net of prior achievement or cognitive ability. [ABSTRACT FROM AUTHOR]

Birth defects are the leading cause of infant death in the United States and among the top causes of pediatric death and hospitalization. Despite the devastating impact of birth defects, we understand little of their etiology impeding progress towards treatment and prevention. Moreover, while surgical interventions have improved survival for many children to beyond their first year, our inability to accurately predict, diagnose and treat the common sequelae of birth defects leaves the economic, social and public health burden of birth defects unacceptably high. An estimated one-third of all pediatric hospital beds are occupied by a child with a genetic diagnosis, and emerging genomic sequencing technologies provide an unprecedented opportunity to identify the genetic variants, including those that cause birth defects. It is essential that we leverage these advances to enhance our understanding of birth defects. Such an effort will lead to new avenues for treatment and provide benefits to families, including improved understanding of the cause of a child's condition and the risks to any future children. Understanding the genetics of human birth defects presents many challenges, some shared with other pathologies and some unique. This White Paper outlines the need for a birth defect genomics initiative, the challenges to overcome, and suggested solutions. Ultimately, we conclude that understanding birth defects must be a trans-NIH effort and involve the development of a new type of interdisciplinary team comprised of clinicians, geneticists, genomicists, epidemiologists, biostatisticians and basic cellular and developmental biologists working together in all aspects of the enterprise. Birth Defects Research 109:180-185, 2017. © 2017 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The current set of papers in this special issue capture the range of viewpoints, scientific approaches, and populations needed to illuminate and tackle the issues of school achievement among vulnerable learners. This includes providing a framework for researchers to work from relevant policy findings, and literature reviews to small scale studies. The manuscripts also traverse different aspects of scientific inquiry – from data reported by federal and state programs, thus providing a "bird's eye view" of findings, to more granular neurobiological approaches. Across all papers is the clear theme of needing to shift from where we have been in order to establish a path forward for where we need to go to account for learners that have been relatively neglected in scientific studies. To break down barriers of inequity and increase our understanding of causes and consequences of vulnerable learners, there is a need to re‐think how we establish policies and allocate funds, as well as broadening our lens as we conduct scientific studies. Each piece in this special issue calls for the need to better understand these issues that vulnerable learners face to address inequities in our educational ecosystems. Together they provide a rich set of insights that have significant implications for science and practice. [ABSTRACT FROM AUTHOR]

This Special Issue of Human Brain Mapping is dedicated to a 10‐year anniversary of the Enhancing NeuroImaging Genetics through Meta‐Analysis (ENIGMA) Consortium. It reports updates from a broad range of international neuroimaging projects that pool data from around the world to answer fundamental questions in neuroscience. Since ENIGMA was formed in December 2009, the initiative grew into a worldwide effort with over 2,000 participating scientists from 45 countries, and over 50 working groups leading large‐scale studies of human brain disorders. Over the last decade, many lessons were learned on how best to pool brain data from diverse sources. Working groups were created to develop methods to analyze worldwide data from anatomical and diffusion magnetic resonance imaging (MRI), resting state and task‐based functional MRI, electroencephalography (EEG), magnetoencephalography (MEG), and magnetic resonance spectroscopy (MRS). The quest to understand genetic effects on human brain development and disease also led to analyses of brain scans on an unprecedented scale. Genetic roadmaps of the human cortex were created by researchers worldwide who collaborated to perform statistically well‐powered analyses of common and rare genetic variants on brain measures and rates of brain development and aging. Here, we summarize the 31 papers in this Special Issue, covering: (a) technical approaches to harmonize analysis of different types of brain imaging data, (b) reviews of the last decade of work by several of ENIGMA's clinical and technical working groups, and (c) new empirical papers reporting large‐scale international brain mapping analyses in patients with substance use disorders, schizophrenia, bipolar disorders, major depression, posttraumatic stress disorder, obsessive compulsive disorder, epilepsy, and stroke. [ABSTRACT FROM AUTHOR]

The article discusses management of women with hereditary gynaecological cancer. Topics discussed include Mendelian conditions known to increase the risk of gynaecological malignancies, clinical utility of low-penetrance susceptibility variants, hereditary breast and ovarian cancer, and genetic testing, preventive and therapeutic options to prognosis cases of these cancers.

In May 2015, my mother was diagnosed with stage IV pancreatic cancer and passed away three months later at the age of 78. Two years later, my older brother, only 53 at the time, was also diagnosed with pancreatic cancer. He passed away 15 months later. With this news, we engaged in the genetic retelling of family histories and connections, drawing genealogical maps on pieces of paper that reminded me of teaching Anthro 101 and starkly reimagined which relatives 'mattered' in our lives. As an anthropologist interested in subject formation and spatiality informed by a Foucauldian analytic, I have been propelled into exploring what it means to become 'high risk' (as a biologically related daughter and sister), subject to new regimes of surveillance and self‐management espoused by the field of precision medicine. This paper addresses this experience and thus contributes to questions of subject formation within the already‐existing truth‐making practices of genetic probability and personalized risk management. [ABSTRACT FROM AUTHOR]

Background: Sleep problems are regularly reported in people with intellectual disabilities. Recent years have seen a substantial increase in studies comparing sleep in people with intellectual disabilities to control participants, with an increase in the use of validated, objective measures. Emerging patterns of differences in sleep time and sleep quality warrant pooled investigation. Methods: A systematic search was conducted across three databases (Ovid Embase, PsycInfo and Medline) and returned all papers comparing sleep in people with intellectual disabilities to a control group, published since the last meta‐analysis on the topic. A quality framework was employed to rate the risk of bias across studies. Separate meta‐analyses of sleep duration and sleep quality were conducted. Subgrouping compared findings for those studies with participants with genetic syndromes or neurodevelopmental conditions and those with heterogeneous intellectual disability. Results: Thirteen new papers were identified and combined with those from the previous meta‐analysis to provide 34 papers in total. Quality of studies was generally rated highly, though sampling provided risk of bias and adaptive functioning was rarely measured. People with intellectual disability associated with genetic syndromes or neurodevelopmental conditions sleep for shorter time periods (standardised mean difference =.26) and experience worse sleep quality (standardised mean difference =.68) than their peers. People with intellectual disability of heterogeneous origin show no difference in sleep time but have poorer sleep quality. There was some evidence that age moderated these effects. Conclusions: People with intellectual disability have poorer sleep than those without. Subtle patterns suggest that aetiology of intellectual disability moderates the topography of these difficulties, with further work needed to differentiate common and distinct mechanisms across groups. [ABSTRACT FROM AUTHOR]

Studies of genetic population structure often involve numerous tests of Hardy–Weinberg equilibrium (HWE), linkage disequilibrium (LD) and genetic differentiation. Tests of HWE or LD are important precursors to population structure assessments. When conducting multiple related statistical tests, type I error increases, e.g., familywise error rate (FWER) inflation. FWER inflation can alter the results of statistical tests and thus the conclusions. We surveyed literature from 2011 to 2013 to determine if studies of population structure assess LD and HWE and if FWER corrections were applied consistently across different types of tests. We found significantly inconsistent FWER corrections, with a bias towards less restrictive correction on genetic differentiation and more restrictive corrections with LD and HWE. While varied adjustments of FWER for different types of analyses might be justified, papers with inconsistent usage across tests of HWE, LD and genetic differentiation did not present rationale for their FWER corrections. We also found a lack of documentation of HWE, LD and FWER corrections in studies. We encourage the authors to report statistical tests and related FWER corrections, use FWER corrections consistently or justify their different methods in the same study. [ABSTRACT FROM AUTHOR]

The advancement and availability of innovative animal biotelemetry and genomic technologies are improving our understanding of how the movements of individuals influence gene flow within and between populations and ultimately drive evolutionary and ecological processes. There is a growing body of work that is integrating what were once disparate fields of biology, and here, we reviewed the published literature up until January 2023 (139 papers) to better understand the drivers of this research and how it is improving our knowledge of animal biology. The review showed that the predominant drivers for this research were as follows: (1) understanding how individual‐based movements affect animal populations, (2) analyzing the relationship between genetic relatedness and social structuring, and (3) studying how the landscape affects the flow of genes, and how this is impacted by environmental change. However, there was a divergence between taxa as to the most prevalent research aim and the methodologies applied. We also found that after 2010 there was an increase in studies that integrated the two data types using innovative statistical techniques instead of analyzing the data independently using traditional statistics from the respective fields. This new approach greatly improved our understanding of the link between the individual, the population, and the environment and is being used to better conserve and manage species. We discuss the challenges and limitations, as well as the potential for growth and diversification of this research approach. The paper provides a guide for researchers who wish to consider applying these disparate disciplines and advance the field. [ABSTRACT FROM AUTHOR]

Internationally, there is considerable inconsistency in the recognition and regulation of children's genetic connections outside the family. In the context of gamete and embryo donation, challenges for regulation seem endless. In this paper, I review some of the paths that have been taken to manage children' being closely genetically related to people outside their families. I do so against the background of recognising the importance of children's interests as moral status holders. I look at recent qualitative research involving donor‐conceived people and borrow their own words to make sense of a purported interest to know (of) their close genetic ties. I also review ways in which gamete donation may have facilitated new kinds of kinship, which are at the same time genetic and chosen. In short, in this paper, I explore what meaning there could be in genetic connections that is not about parenthood. Further, I argue that the focus on parenthood in previous work in this area may be detrimental to appreciating some of the goods that can be derived from close genetic connections. [ABSTRACT FROM AUTHOR]

Genetic relatedness figures heavily in contemporary ethical debates on egg freezing, although the arguments lack empirical‐based evidence. Rather than adding another theoretical view on the moral relevance of genetic connections, this paper instead proposes an empirically grounded perspective based on two independent qualitative interview‐based studies conducted in Belgium and France. Three themes emerge from our empirical data: (1) prioritizing family building; (2) centering the gestational experience of motherhood; and (3) identifying the complexities and limitations of adoption. These themes suggest that the relationship between egg freezing, genetics, biological motherhood, and adoption is highly complex and less straightforward than what is often assumed in the egg freezing debate. Our study provides more detailed insights into women's ambivalent experiences regarding those reproductive options. We discuss the ethical implications of our empirical findings and hold that pursuing genetic desire is not necessarily the main moral reason why women freeze their eggs. [ABSTRACT FROM AUTHOR]

Recent developments in genomic technology, especially those enabling gene editing, promise to put an end to hitherto intractable medical problems and to usher us into the age of personalized medicine. These technologies, however, raise a number of serious ethical challenges. Given the global impact of this technology, recent international regulations emphasize the need for intercultural dialogue on these ethical issues. This paper concentrates on Islamic perspectives on human genetic modification. It examines Islamic juristic discourses on the issue of genetic modification and highlights the different layers within these discourses. The paper identifies the main positions regarding human genetic modification along with the underlying arguments for each of them. In general, these positions are articulated in light of the nature as well as the intended objectives of the different procedures. The paper devotes special attention to the treatment‐enhancement distinction and argues that within Islamic discourses this distinction is quite nuanced. The paper points out important substantive and methodological gaps and emphasizes the evolving nature of Islamic discourses on this issue. [ABSTRACT FROM AUTHOR]

This paper uses zone electrophoresis, one of the most frequently used tools in molecular biology, to explore two ideas derived from Hans-Jörg Rheinberger's reflections on experiments. First, the constraining role played by technical objects--instrumentation and material conditions--in the production of knowledge or epistemic things. Second, the production of interconnected experimental systems by such technical objects, which results in the unexpected entanglement of research fields and experimental cultures. By the beginning of the 1960s, the inception of zone electrophoresis in laboratories around the world transformed--some say, revolutionized--the study of proteins. Even today, electrophoresis continues to open research venues and questions in biomedicine, molecular biology, human genetics, and in the field of molecular evolution. In my essay, I seek to look at the interconnected lives of zone electrophoresis and address the broader social, and even global context, in which this apparently humble technique became a salient tool in the production of biological knowledge. In so doing, I aim to take the past and present of the history and historiography of experimental systems to the future, where experiments and technologies are interrogated as they are used in different geographies and contexts, including contexts of poverty. [ABSTRACT FROM AUTHOR]

This paper uses policy‐induced variation in legal access to alcohol in the United States to explore interactions between genetic predispositions and health behaviors. It is well known that Minimum Legal Drinking Age (MLDA) laws have discrete impacts on binge drinking behaviors, but less is known about heterogeneity of the effects and the characteristics of individuals most and least affected. Using the Add Health data, this paper explores differential policy effects based on polygenic scores (PGS), which are genome‐wide summary measures predicting health outcomes. Specifically, we leverage PGS for alcoholism and for a broader set of risk‐taking behaviors to explore heterogeneities in response to the policy and consider mechanisms for the responses. Like previous literature using the Add Health and other datasets, we find main effects of MLDA in increasing recent binge drinking episodes by approximately 5 percentage points. We find MLDA effects are concentrated entirely in individuals with high PGS for alcohol use. We are also able to compare these results with measures of parental alcoholism as a global proxy for family history. [ABSTRACT FROM AUTHOR]

Since Washburn's New Physical Anthropology, researchers have sought to understand the complexities of morphological evolution among anatomical regions in human and non‐human primates. Researchers continue, however, to preferentially use comparative and functional approaches to examine complex traits, but these methods cannot address questions about evolutionary process and often conflate function with fitness. Moreover, researchers also tend to examine anatomical elements in isolation, which implicitly assumes independent evolution among different body regions. In this paper, we argue that questions asked in primate evolution are best examined using multiple anatomical regions subjected to model‐bound methods built from an understanding of evolutionary quantitative genetics. A nascent but expanding number of studies over the last two decades use this approach, examining morphological integration, evolvability, and selection modeling. To help readers learn how to use these methods, we review fundamentals of evolutionary processes within a quantitative genetic framework, explore the importance of neutral evolutionary theory, and explain the basics of evolutionary quantitative genetics, namely the calculation of evolutionary potential for multiple traits in response to selection. Leveraging these methods, we demonstrate their use to understand non‐independence in possible evolutionary responses across the limbs, limb girdles, and basicranium of humans. Our results show that model‐bound quantitative genetic methods can reveal unexpected genetic covariances among traits that create a novel but measurable understanding of evolutionary complexity among multiple traits. We advocate for evolutionary quantitative genetic methods to be a standard whenever appropriate to keep studies of primate morphological evolution relevant for the next seventy years and beyond. [ABSTRACT FROM AUTHOR]

These papers cover established and emerging viral tools for functional genomics in maize, a genomic study of maize resistance genes, and the identification and detailed characterization of maize genes involved in pathogen resistance and microbial genes involved in pathogenicity. The first identification of a plant disease resistance gene, I Hm1 i (Johal & Briggs, [12]), and of a plant disease susceptibility gene, I T-urf13 i (Dewey et al., [7]), occurred in maize. Thatcher, Jung et al. ([35], this issue) took advantage of the recent availability of a set of diverse maize genome sequences to characterize the diversity of NLR genes in maize as well as the maize relative I Zea luxurians i . Maize ( I Zea mays i ) is an annual grass belonging to the tribe Andropogoneae of the family Gramineae. [Extracted from the article]

Abstract: After the inaugural Pan‐American‐Evo‐Devo meeting (2015, Berkeley), I showed how major concerns about evo‐devo (Evolutionary Developmental Biology) research were demonstrated by a simple, non‐biased quantitative analysis of the titles/abstracts of that meeting's talks. Here, I apply the same methodology to the titles/abstracts of the recent Pan‐American‐Evo‐Devo meeting (2017, Calgary). The aim is to evaluate if the concerns raised by me in that paper and by other authors have been addressed and/or if there are other types of differences between the two meetings that may reflect trends within the field of evo‐devo. This analysis shows that the proportion of presentations referring to “morphology”, “organism”, “selection”, “adaptive”, “phylogeny”, and their derivatives was higher in the 2017 meeting, which therefore had a more “organismal” feel. However, there was a decrease in the use of “evolution”/its derivatives and of macroevolutionary terms related to the tempo and mode of evolution in the 2017 meeting. Moreover, the disproportionately high use of genetic/genomic terms clearly shows that evo‐devo continues to be mainly focused on devo, and particularly on “Geno”, that is, on molecular/genetic studies. Furthermore, the vast majority of animal evo‐devo studies are focused only on hard tissues, which are just a small fraction of the whole organism—for example, only 15% of the tissue mass of the human body. The lack of an integrative approach is also evidenced by the lack of studies addressing conceptual/long‐standing broader questions, including the links between ecology and particularly behavior and developmental/evolutionary variability and between evo‐devo and evolutionary medicine. [ABSTRACT FROM AUTHOR]

Even modest improvements in the probability of success of selecting drug targets which are ultimately approved can substantially reduce the costs of research and development. Drug targets with human genetic evidence of disease association are twice as likely to lead to approved drugs. A key enabler of identifying and validating these genetically validated targets is access to association results from genome‐wide genotyping, whole‐exome sequencing, and whole‐genome sequencing studies with observable traits (often diseases) across large numbers of individuals. Today, linkage between genotype and real‐world data (RWD) provides significant opportunities to not only increase the statistical power of genome‐wide association studies by ascertaining additional cases for diseases of interest, but also to improve diversity and coverage of association studies across the disease phenome. As RWD‐genetics linked resources continue to grow in diversity of participants, breadth of data captured, length of observation, and number of participants, there is a greater need to leverage the experience of RWD experts, clinicians, and highly experienced geneticists together to understand which lessons and frameworks from general research using RWD sources are relevant to improve genetics‐driven drug discovery and development. This paper describes new challenges and opportunities for phenotypes enabled by diverse RWD sources, considerations in the use of RWD phenotypes for disease gene identification across the disease phenome, and challenges and opportunities in leveraging RWD phenotypes in target validation. The paper concludes with views on the future directions for phenotype development using RWD, and key questions requiring further research and development to advance this nascent field. [ABSTRACT FROM AUTHOR]

This article represents the perspective of one retired, academic forage breeder and cultivar developer after 50 years of working experience. Developing cultivars that help farmers within pastoral agriculture is the main goal, a system where livestock is the consumer. International Grassland Congress proceedings, as well as the general literature, are historical guides for the state of forage breeding. Efficiency was achieved through technologies; better equipment for planting and harvesting; and advances in computer computation and communication. Biotechnology achievements were fitful and continue to evolve. Cultivar performance mean‐reversion, cost to the program, and what the farmer seed buyer was willing to pay are important considerations for applying any technology, especially biotechnologies. Biotech promises were too optimistic. This was due, in part, to a lack of understanding that traditional phenotypic/genotypic field selection programs operate in a complex way with multiple species and several traits screened simultaneously at a modest cost. The majority of current forage cultivars are from field‐based selection. Industry participation at scientific conferences declined over time, with less sharing of information the result. Cultivar developers will continue using basic field selection methods but should explore applying any technology; just be clever on when, how, and with whom to use them. Practical advice and experiences are also presented and discussed. [ABSTRACT FROM AUTHOR]

Background: Alzheimer's disease (AD), the most prevalent form of dementia, affects 6.5 million Americans and over 50 million people globally. Clinical, genetic, and phenotypic studies of dementia provide some insights of the observed progressive neurodegenerative processes, however, the mechanisms underlying AD onset remain enigmatic. Aims: This paper examines late-onset dementia-related cognitive impairment utilizing neuroimaging-genetics biomarker associations. Materials and Methods: The participants, ages 65–85, included 266 healthy controls (HC), 572 volunteers with mild cognitive impairment (MCI), and 188 Alzheimer's disease (AD) patients. Genotype dosage data for AD-associated single nucleotide polymorphisms (SNPs) were extracted from the imputed ADNI genetics archive using sample-major additive coding. Such 29 SNPs were selected, representing a subset of independent SNPs reported to be highly associated with AD in a recent AD meta GWAS study by Jansen and colleagues. Results: We identified the significant correlations between the 29 genomic markers (GMs) and the 200 neuroimaging markers (NIMs). The odds ratios and relative risks for AD and MCI (relative to HC) were predicted using multinomial linear models. Discussion: In the HC and MCI cohorts, mainly cortical thickness measures were associated with GMs, whereas the AD cohort exhibited different GM-NIM relations. Network patterns within the HC and AD groups were distinct in cortical thickness, volume, and proportion of White to Gray Matter (pct), but not in the MCI cohort Multinomial linear models of clinical diagnosis showed precisely the specific NIMs and GMs that were most impactful in discriminating between AD and HC, and between MCI and HC. Conclusion: This study suggests that advanced analytics provide mechanisms for exploring the interrelations between morphometric indicators and GMs. The findings may facilitate further clinical investigations of phenoty pic associations that support deep systematic understanding of AD pathogenesis. [ABSTRACT FROM AUTHOR]

Objectives: The overarching hypothesis of the present paper is that ethnically and/or genetically diverse human populations may exhibit similarity in correlations between various aspects of human phenotypes due to the morphological integration process during the ontogenetic stages. To test this we investigated whether an association between craniofacial (CF) features and body composition (BC) variations is present in humans and the extent to which such possible associations are comparable in different populations. Furthermore, the paper examines the contribution of common genetic (additive) and shared familial environmental factors in assessing the correlation between CF and BC characteristics in humans. Materials and Methods: Two pedigree‐based samples were collected from two distinct populations, including India (Santhal) and Europe (Chuvash). Canonical correlation analysis was used to compare the association between CF and BC characteristics in the two studied samples. The contribution of genetic and familial environmental factors on the correlation between CF and BC features was analyzed through variance decomposition analysis by implementing the Mendelian Analysis package (MAN). Results: Our study suggests that CF morphology is significantly (p < 0.001) associated with BC variation in both samples. CF characteristics and BC phenotypes revealed a consistent trend in both samples where condensed and broad CF morphology was significantly associated with increased fat accumulation, with slight variations between the Santhal and Chuvash samples. Despite the variations observed between the samples, the heritability estimates were impressively equivalent for traits like total facial height (55.6%Santhalvs.56.1%Chuvash) and nasal index (42.8%Santhalvs. 43.3%Chuvash). Discussion: The genetic contribution of CF morphology appeared to be extensive and the contribution of common genetic and shared family environmental correlations between CF and BC measures were suggestively substantial. Accordingly, these correlations were consistently observed across ethnically diverse populations, despite drastic morphological differences between the samples under comparison. [ABSTRACT FROM AUTHOR]

Background: Dysphagia is a highly prevalent condition and affects a wide range of cohorts. A common compensatory strategy to manage dysphagia is diet modification. However, this technique is often associated with poor patient quality of life and adverse long‐term effects. Carbonated liquids have shown promise as an alternative compensatory strategy for the management of dysphagia. Aims: To examine the effect of genetic taste status and intensity of carbonation on swallowing and palatability in a healthy young adult population. To examine the palatability of carbonated liquids over time. Methods & Procedures: A total of 35 healthy young adults were recruited for this prospective, quantitative cohort study. They each drank 150 ml of still water (SW), lightly carbonated water (LCW) and highly carbonated water (HCW). Swallow function, palatability and genetic taste status were assessed using the timed water swallow test, the hedonic general labelled magnitude scale and participant ratings of the bitterness of propylthiouracil strips, respectively. Participants were divided into groups of supertasters, moderate tasters and non‐tasters. Outcomes & Results: A significant difference was found between SW and HCW on three tests of swallow function. Average time per swallow increased (p = 0.03), average swallow velocity decreased (p = 0.001) and average volume per swallow decreased (p = 0.017) on HCW compared with SW. HCW had a greater impact on swallow function than LCW. A significant mean difference in palatability ratings was found across intensity levels of carbonated fluids (p = 0.002), specifically between SW and HCW (p = 0.001). HCW was less palatable than SW. The palatability of carbonated liquids, investigated within a subgroup of five participants, did not decrease after a 24‐h period during which participants only drank carbonated liquids (p = 0.102). A significant difference was found between supertasters' (n = 9) (mean = 13.33) and non‐tasters' (n = 20) (mean = –24.5) palatability ratings of HCW (p = 0.03). Despite differences in swallow function between SW and HCW, no differences were detected between supertasters' and non‐tasters' swallow function on SW, LCW or HCW. Conclusions & Implications: Carbonated liquids have the ability to alter swallow function in a healthy young adult population; however, liquids must be highly carbonated in order to have an effect. Additionally, highly carbonated liquids are less palatable than SW, but the palatability of carbonated liquids does not decrease over time. Furthermore, supertasters find HCW more palatable than non‐tasters. These findings suggest that carbonated liquids alter swallowing in a healthy population. Further research in a clinical population is needed to better understand the potential role of sensory stimulation as a dysphagia intervention. What this paper adds: What is already known on the subject: Several studies have found that carbonated liquids have the ability to alter swallow function in both healthy and clinical populations. However, there is a lack of evidence around the optimum intensity of CO2 in carbonated liquids and the palatability of carbonated liquids as well as the palatability of carbonated fluids over time. What this paper adds to existing knowledge: The findings from this study suggest that carbonated liquids can alter swallow function in a healthy young adult population, but liquids must be highly carbonated in order to have an effect. HCW is less palatable than SW, but the palatability of carbonated liquids does not decrease over time. Additionally, supertasters find HCW more palatable than non‐supertasters (non‐tasters). What are the potential or actual clinical implications of this work?: The findings from this study suggest that carbonated liquids may be suitable for use as a sensory stimulation technique for people with dysphagia, as their palatability does not decrease over time; however, further research in a clinical population is needed in order to determine this. Additionally, intensity of stimulus is an important factor to consider during dysphagia evaluation to identify what intensity is required to optimize swallowing. [ABSTRACT FROM AUTHOR]

Gene therapy uses genetic modification of cells to produce a therapeutic effect. Defective or missing genes can be repaired or replaced, or gene expression can be modified using a variety of technologies. Repair of defective genes can be achieved using specialized gene editing tools. Gene addition promotes gene expression by introducing synthetic copies of genes of interest (transgenes) into cells where they are transcribed and translated into therapeutic proteins. Protein production can also be modified using therapies that regulate gene expression. Gene therapy is currently prohibited in both human and equine athletes because of the potential to induce production of performance‐enhancing proteins in the athlete's body, also referred to as "gene doping." Detection of gene doping is challenging and necessitates development of creative, novel analytical methods for doping control. Methods for detection of gene doping must be specific to and will vary depending on the type of gene therapy. The purpose of this paper is to present the results of a systematic review of gene editing, gene therapy, and detection of gene doping in horses. Based on the published literature, gene therapy has been administered to horses in a large number of experimental studies and a smaller number of clinical cases. Detection of gene therapy is possible using a combination of PCR and sequencing technologies. This summary can provide a basis for discussion of appropriate and inappropriate uses for gene therapy in horses by the veterinary community and guide expansion of methods to detect inappropriate uses by the regulatory community. [ABSTRACT FROM AUTHOR]

The process of interpreting genetic variants, in which experts use all available evidence to determine whether an identified variant is associated with a current or future disease, is both scientific and nevertheless subjective. In this paper, we summarize the existing evidence that any given variant could be reclassified and that such a reclassification could lead to harm. Furthermore, the racial gap in genetic databases could lead to a higher likelihood of harm for non‐white patients. We also review recent legal analyses indicating it is unlikely that an individual who sues for restitution would be successful, especially in the absence of evidence of lab negligence. We then propose a compensation program for medical genetic tests to ensure that individuals who experience demonstrable harm due to a variant reclassification can be made whole financially. We conclude by discussing outstanding questions that must be answered for such a program to be feasible. [ABSTRACT FROM AUTHOR]

This white paper evaluates the current and future state of clinical pharmacist‐led precision medicine initiatives, focusing on an overview of pharmacogenomics (PGx) in three key areas: clinical practice, education, and research. These key facets are described in detail, followed by a review of potential and perceived barriers concerning PGx and recommendations for the clinical pharmacist's role in overcoming these barriers. This paper reviews the current state of clinical pharmacist‐led precision medicine and presents a vision for the future of pharmacy practice in this quickly evolving field. [ABSTRACT FROM AUTHOR]

Software fault prediction became an essential research area in the last few years, there are many prediction and optimization techniques that have been developed for fault prediction. In this paper, an approach is developed by integrating genetics algorithm with support vector machine (SVM) classifier and Whale optimization algorithm for software fault prediction. The developed approach is applied to 24 datasets (12‐NASA MDP and 12‐Java open‐source projects), where NASA MDP is considered as a large‐scale dataset, and Java open source projects are considered as a small‐scale dataset. Results indicate that integrating Genetics algorithm with SVM and Whale algorithm improves the performance of the software fault prediction process when it is applied to large‐scale and small‐scale datasets and overcome the limitations that appeared in the previous studies. [ABSTRACT FROM AUTHOR]

The synthesis of quantitative genetics and molecular genetics is transforming research in the behavioural sciences. The ability to measure inherited DNA differences directly has led to polygenic scores and to new methods to estimate heritability and genetic correlations. This issue provides examples of how these advances can be appllied to research on gene‐environment interplay in developmental psychopathology. [ABSTRACT FROM AUTHOR]

The increasing availability of genotype data in longitudinal population‐ and family‐based samples provides opportunities for using polygenic scores (PGS) to study developmental questions in child and adolescent psychology and psychiatry. Here, we aim to provide a comprehensive overview of how PGS can be generated and implemented in developmental psycho(patho)logy, with a focus on longitudinal designs. As such, the paper is organized into three parts: First, we provide a formal definition of polygenic scores and related concepts, focusing on assumptions and limitations. Second, we give a general overview of the methods used to compute polygenic scores, ranging from the classic approach to more advanced methods. We include recommendations and reference resources available to researchers aiming to conduct PGS analyses. Finally, we focus on the practical applications of PGS in the analysis of longitudinal data. We describe how PGS have been used to research developmental outcomes, and how they can be applied to longitudinal data to address developmental questions. [ABSTRACT FROM AUTHOR]

Infectious bronchitis virus (IBV) is a member of the family Coronaviridae, together with viruses such as SARS‐CoV, MERS‐CoV and SARS‐CoV‐2 (the causative agent of the COVID‐19 global pandemic). In this family of viruses, interspecies transmission has been reported, so understanding their pathobiology could lead to a better understanding of the emergence of new serotypes. IBV possesses a single‐stranded, non‐segmented RNA genome about 27.6 kb in length that encodes several non‐structural and structural proteins. Most functions of these proteins have been confirmed in IBV, but some other proposed functions have been based on research conducted on other members of the family Coronaviridae. IBV has variable tissue tropism depending on the strain, and can affect the respiratory, reproductive, or urinary tracts; however, IBV can also replicate in other organs. Additionally, the pathogenicity of IBV is also variable, with some strains causing only mild clinical signs, while infection with others results in high mortality rates in chickens. This paper extensively and comprehensibly reviews general aspects of coronaviruses and, more specifically, IBV, with emphasis on protein functions and pathogenesis. The pathogenicity of the Australian strains of IBV is also reviewed, describing the variability between the different groups of strains, from the classical to the novel and recombinant strains. Reverse genetic systems, cloning and cell culture growth techniques applicable to IBV are also reviewed. [ABSTRACT FROM AUTHOR]

Fundamental cause theory (FCT) is among the most widely recognised and accepted social science frameworks used to examine the processes driving health inequalities. Despite the wide influence of the theory, it remains largely underutilised in practical and applied research on health disparities. This paper proposes that Pierre Bourdieu's theories of capital and symbolic power can be integrated with FCT to address limitations in the latter theory, making it more useful in health disparities research. Using a case study of U.S. health insurance claim denials for genetic testing among women with a breast cancer diagnosis, this work illustrates how the theoretical constructs of FCT and Bourdieu's work articulate, and consequently deepens our appreciation for the durable relationship between socioeconomic status and health. Study results reveal the multiple and complex mechanisms that play a role in access to healthcare services, which has significant implications for how we think about the role of health policy in addressing health disparities. [ABSTRACT FROM AUTHOR]

The penetration of photovoltaic systems (PVs) to existing power grids is increasing as they are considered attractive options for electricity generation in distribution networks. This paper focuses on estimating the total power generated by a group of neighbouring PVs, spread over a distribution network using a single pyranometer for measuring the solar irradiance. A new empirical‐based model that employs the Gene Expression Programming (GEP) technique is proposed to correlate the distribution of the PVs and the irradiance measured by the pyranometer and estimate the total power generated by the PVs. The geographic variability reduction index has been considered in developing the proposed model that also employs a Wavelet Transform technique to enhance its accuracy. The effective performance of the proposed model is validated using real data collected by the Solar Project at the University of Queensland, Brisbane, Australia. Results reveal that the proposed technique yields more accurate results when compared with other existing approaches in the literature. [ABSTRACT FROM AUTHOR]

Hans-Jörg Rheinberger constructed his historical epistemology of epistemic things by analyzing experimental practices in molecular biology during the 1970s and 80s. With genetic sequencing and multi-omics approaches, data has become a new resource in the life sciences, questioning the applicability of his concept of experimental system. By historicizing Rheinberger's epistemology, the paper focuses on its relatedness to Ludwik Fleck's notion of an aviso of resistance and points to a gradual shift in Rheinberger's emphasis, moving from an initial focus on writing and its differentiality to work on materials, preparations, and representations. By anchoring visualization in these material practices, Rheinberger also sheds new light on the changing conditions of experimentation in the life sciences due to big data, where visualization emphasizes patterns and correlations rather than substrates. [ABSTRACT FROM AUTHOR]

Genetic and early environmental differences including early health habits associate with future health. To provide insight on the causal nature of these associations, monozygotic (MZ) twin pairs discordant for health habits provide an interesting natural experiment. Twin pairs discordant for leisure‐time physical activity (LTPA) in early adult life is thus a powerful study design to investigate the associations between long‐term LTPA and indicators of health and wellbeing. We have identified 17 LTPA discordant twin pairs from two Finnish twin cohorts and summarize key findings of these studies in this paper. The carefully characterized rare long‐term LTPA discordant MZ twin pairs have participated in multi‐dimensional clinical examinations. Key findings highlight that compared with less active twins in such MZ twin pairs, the twins with higher long‐term LTPA have higher physical fitness, reduced body fat, reduced visceral fat, reduced liver fat, increased lumen diameters of conduit arteries to the lower limbs, increased bone mineral density in loaded bone areas, and an increased number of large high‐density lipoprotein particles. The findings increase our understanding on the possible site‐specific and system‐level effects of long‐term LTPA. [ABSTRACT FROM AUTHOR]

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Prevalence and symptoms of most psychiatric and neurological disorders differ in men and women and there is substantial evidence that their neurobiological basis and treatment also differ by sex. This special issue sought to bring together a series of empirical papers and targeted reviews to highlight the diverse impact of sex in neuroscience and neuropsychopharmacology. This special issue emphasizes the diverse impact of sex in neuroscience and neuropsychopharmacology, including 9 review papers and 17 research articles highlighting investigation in different species (zebrafish, mice, rats, and humans). Each contribution covers scientific topics that overlap with genetics, endocrinology, cognition, behavioral neuroscience, neurology, and pharmacology. Investigating the extent to which sex differences can impact the brain and behavior is key to moving forward in neuroscience research. [ABSTRACT FROM AUTHOR]

The special issue resulting from the 2018 Earli‐SIG22 conference reflects the current state of the field, the diversity of methods, the persevering limitations and promising directions towards solutions. About half of the empirical papers in this special issue that consist of three parts, uses behavioral, self‐report or qualitative measures to understand the "mind" level of Mind, Brain, and Education. The other half investigates the "brain" level, using neuroimaging but also genetics or eye‐tracking to gain access to the wider range of biological substrates of learning and cognition. These biological studies mostly have added value by refining psychological theories, such that these inspire new hypotheses to test in the field, to ultimately better inform teaching. Importantly, the special issue presents several approaches to more intensive, bi‐directional and systematic practice‐research collaborations to better connect the "mind" and "brain" levels to education, and to equip researchers to realize such collaborations successfully in the future. [ABSTRACT FROM AUTHOR]

Obesity is a complex and multifactorial condition that poses significant health risks. Recent advancements in our understanding of obesity have highlighted the heterogeneity within this disorder. Identifying distinct subtypes of obesity is crucial for personalised treatment and intervention strategies. This review paper aims to examine studies that have utilised clinical biomarkers and genetic data to identify clusters or subtypes of obesity. The findings of these studies may provide valuable insights into the underlying mechanisms and potential targeted approaches for managing obesity‐related health issues such as type 2 diabetes. [ABSTRACT FROM AUTHOR]

During the 1970s, ethologists at the German Max Planck Institute for Behavioral Physiology in Seewiesen started a series of research projects at several regional kindergartens in search of natural predispositions in human behavior. This so‐called "Kindergarten Project" became one of the pillars of research activity at the newly founded Forschungsstelle für Humanethologie (Research Center for Human Ethology) where Irenäus Eibl‐Eibesfeldt and a team of researchers set out to explore new fields of research for the discipline of ethology. Taking the research project conducted by biologist Barbara Hold on ranking behavior among kindergarten children as a vantage point, this paper explores the shift in ethology from animal to human behavior which occurred during the 1960s and 1970s. It analyzes how human ethologists coped with the methodological, conceptual, and ethico‐political challenges which arose from crossing the human‐animal divide. This article thus sheds light on the hitherto unwritten history of human ethology as it was developed at the MPI since the late 1960s. [ABSTRACT FROM AUTHOR]

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic‐pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high‐throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder. [ABSTRACT FROM AUTHOR]

In this paper I argue that current law and policy governing germline genetic modification are overly broad and in fact prohibit medical interventions normally considered unobjectionable. The root of the problem lies in the fact law and policy tend to espouse a near categorical ban on medical interventions that alter germline DNA. However, if we pay close attention to the biological mechanisms at play we see that many standard medical interventions result in alterations to DNA that can be transmitted to future generations. The correct focus of policy and regulation thus ought to be determining which kinds of transmissible genetic modifications ought to be permitted, and not whether they should be permitted at all. Given that the scientific classification of biological structures involved in the inheritance of traits is unlikely to be in itself ethically significant, ethicists ought to develop a definition of 'gene' fit for ethical purposes. [ABSTRACT FROM AUTHOR]

This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention. [ABSTRACT FROM AUTHOR]

Summary: Our understanding of canine coat colour genetics and the associated health implications is developing rapidly. To date, there are 15 genes with known roles in canine coat colour phenotypes. Many coat phenotypes result from complex and/or epistatic genetic interactions among variants within and between loci, some of which remain unidentified. Some genes involved in canine pigmentation have been linked to aural, visual and neurological impairments. Consequently, coat pigmentation in the domestic dog retains considerable ethical and economic interest. In this paper we discuss coat colour phenotypes in the domestic dog, the genes and variants responsible for these phenotypes and any proven coat colour‐associated health effects. [ABSTRACT FROM AUTHOR]

Anxiety disorders are highly prevalent and disabling but seem particularly tractable to investigation with translational neuroscience methodologies. Neuroimaging has informed our understanding of the neurobiology of anxiety disorders, but research has been limited by small sample sizes and low statistical power, as well as heterogenous imaging methodology. The ENIGMA‐Anxiety Working Group has brought together researchers from around the world, in a harmonized and coordinated effort to address these challenges and generate more robust and reproducible findings. This paper elaborates on the concepts and methods informing the work of the working group to date, and describes the initial approach of the four subgroups studying generalized anxiety disorder, panic disorder, social anxiety disorder, and specific phobia. At present, the ENIGMA‐Anxiety database contains information about more than 100 unique samples, from 16 countries and 59 institutes. Future directions include examining additional imaging modalities, integrating imaging and genetic data, and collaborating with other ENIGMA working groups. The ENIGMA consortium creates synergy at the intersection of global mental health and clinical neuroscience, and the ENIGMA‐Anxiety Working Group extends the promise of this approach to neuroimaging research on anxiety disorders. [ABSTRACT FROM AUTHOR]