Search results for: familial
12 An Approach to Addressing Homelessness in Hong Kong: Life Story Approach
Authors: Tak Mau Simon Chan, Ying Chuen Lance Chan
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Homelessness has been a popular and controversial debate in Hong Kong, a city which is densely populated and well-known for very expensive housing. The constitution of the homeless as threats to the community and environmental hygiene is ambiguous and debatable in the Hong Kong context. The lack of an intervention model is the critical research gap thus far, aside from the tangible services delivered. The life story approach (LSA), with its unique humanistic orientation, has been well applied in recent decades to depict the needs of various target groups, but not the homeless. It is argued that the life story approach (LSA), which has been employed by health professionals in the landscape of dementia, and health and social care settings, can be used as a reference in the local Chinese context through indigenization. This study, therefore, captures the viewpoints of service providers and users by constructing an indigenous intervention model that refers to the LSA in serving the chronically homeless. By informing 13 social workers and 27 homeless individuals in 8 focus groups whilst 12 homeless individuals have participated in individual in-depth interviews, a framework of LSA in homeless people is proposed. Through thematic analysis, three main themes of their life stories was generated, namely, the family, negative experiences and identity transformation. The three domains solidified framework that not only can be applied to the homeless, but also other disadvantaged groups in the Chinese context. Based on the three domains of family, negative experiences and identity transformation, the model is applied in the daily practices of social workers who help the homeless. The domain of family encompasses familial relationships from the past to the present to the speculated future with ten sub-themes. The domain of negative experiences includes seven sub-themes, with reference to the deviant behavior committed. The last domain, identity transformation, incorporates the awareness and redefining of one’s identity and there are a total of seven sub-themes. The first two domains are important components of personal histories while the third is more of an unknown, exploratory and yet to-be-redefined territory which has a more positive and constructive orientation towards developing one’s identity and life meaning. The longitudinal temporal dimension of moving from the past – present - future enriches the meaning making process, facilitates the integration of life experiences and maintains a more hopeful dialogue. The model is tested and its effectiveness is measured by using qualitative and quantitative methods to affirm the extent that it is relevant to the local context. First, it contributes to providing a clear guideline for social workers who can use the approach as a reference source. Secondly, the framework acts as a new intervention means to address problem saturated stories and the intangible needs of the homeless. Thirdly, the model extends the application to beyond health related issues. Last but not least, the model is highly relevant to the local indigenous context.Keywords: homeless, indigenous intervention, life story approach, social work practice
Procedia PDF Downloads 28911 Negotiating Communication Options for Deaf-Disabled Children
Authors: Steven J. Singer, Julianna F. Kamenakis, Allison R. Shapiro, Kimberly M. Cacciato
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Communication and language are topics frequently studied among deaf children. However, there is limited research that focuses specifically on the communication and language experiences of Deaf-Disabled children. In this ethnography, researchers investigated the language experiences of six sets of parents with Deaf-Disabled children who chose American Sign Language (ASL) as the preferred mode of communication for their child. Specifically, the researchers were interested in the factors that influenced the parents’ decisions regarding their child’s communication options, educational placements, and social experiences. Data collection in this research included 18 hours of semi-structured interviews, 20 hours of participant observations, over 150 pages of reflexive journals and field notes, and a 2-hour focus group. The team conducted constant comparison qualitative analysis using NVivo software and an inductive coding procedure. The four researchers each read the data several times until they were able to chunk it into broad categories about communication and social influences. The team compared the various categories they developed, selecting ones that were consistent among researchers and redefining categories that differed. Continuing to use open inductive coding, the research team refined the categories until they were able to develop distinct themes. Two team members developed each theme through a process of independent coding, comparison, discussion, and resolution. The research team developed three themes: 1) early medical needs provided time for the parents to explore various communication options for their Deaf-Disabled child, 2) without intervention from medical professionals or educators, ASL emerged as a prioritized mode of communication for the family, 3) atypical gender roles affected familial communication dynamics. While managing the significant health issues of their Deaf-Disabled child at birth, families and medical professionals were so fixated on tending to the medical needs of the child that the typical pressures of determining a mode of communication were deprioritized. This allowed the families to meticulously research various methods of communication, resulting in an informed, rational, and well-considered decision to use ASL as the primary mode of communication with their Deaf-Disabled child. It was evident that having a Deaf-Disabled child meant an increased amount of labor and responsibilities for parents. This led to a shift in the roles of the family members. During the child’s development, the mother transformed from fulfilling the stereotypical roles of nurturer and administrator to that of administrator and champion. The mother facilitated medical proceedings and educational arrangements while the father became the caretaker and nurturer of their Deaf-Disabled child in addition to the traditional role of earning the family’s primary income. Ultimately, this research led to a deeper understanding of the critical role that time plays in parents’ decision-making process regarding communication methods with their Deaf-Disabled child.Keywords: American Sign Language, deaf-disabled, ethnography, sociolinguistics
Procedia PDF Downloads 11610 Phenotypic and Molecular Heterogeneity Linked to the Magnesium Transporter CNNM2
Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller
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Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain
Procedia PDF Downloads 1459 Leadership Values in Succession Processes
Authors: Peter Heimerl, Alexander Plaikner, Mike Peters
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Background and Significance of the Study: Family-run businesses are a decisive economic factor in the Alpine tourism and leisure industry. Within the next years, it is expected that a large number of family-run small and medium-sized businesses will transfer ownership due to demographic developments. Four stages of succession processes can be identified by several empirical studies: (1) the preparation phase, (2) the succession planning phase, (3) the development of the succession concept, (4) and the implementation of the business transfer. Family business research underlines the importance of individual's and family’s values: Especially leadership values address mainly the first phase, which strongly determines the following stages. Aim of the Study: The study aims at answering the following research question: Which leadership values are dominating during succession processes in family-run businesses in Austrian Alpine tourism industry? Methodology: Twenty-two problem-centred individual interviews with 11 transferors and their 11 transferees were conducted. Data analysis was carried out using the software program MAXQDA following an inductive approach to data coding. Major Findings: Data analysis shows that nine values particularly influence succession processes, especially during the vulnerable preparation phase. Participation is the most-dominant value (162 references). It covers a style of cooperation, communication, and controlling. Discipline (142) is especially prevailing from the transferor's perspective. It addresses entrepreneurial honesty and customer orientation. Development (138) is seen as an important value, but it can be distinguished between transferors and transferees. These are mainly focused on strategic positioning and new technologies. Trust (105) is interpreted as a basic prerequisite to run the family firm smoothly. Interviewees underline the importance to be able to take a break from family-business management; however, this is only possible when openness and honesty constitute trust within the family firm. Loyalty (102): Almost all interviewees perceive that they can influence the loyalty of the employees through their own role models. A good work-life balance (90) is very important to most of the transferors, especially for their employees. Despite the communicated importance of a good work-life-balance, but however, mostly the commitment to the company is prioritised. Considerations of regionality (82) and regional responsibility are also frequently raised. Appreciation (75) is of great importance to both the handover and the takeover generation -as appreciation towards the employees in the company and especially in connection with the family. Familiarity (66) and the blurring of the boundaries between private and professional life are very common, especially in family businesses. Familial contact and open communication with employees which is mentioned in almost all handing over. Conclusions: In the preparation phase of succession, successors and incumbents have to consider and discuss their leadership and family values of family-business management. Quite often, assistance is needed to commonly and openly discuss these values in the early stages of succession processes. A large majority of handovers fail because of these values. Implications can be drawn to support family businesses, e.g., consulting initiatives at chambers of commerce and business consultancies must address this problem.Keywords: leadership values, family business, succession processes, succession phases
Procedia PDF Downloads 928 Conceptualizing the Moroccan Amazigh
Authors: Sanaa Riaz
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The free people, Amazigh (plural Imazighen), often known by the more popular exonym, Berber, are spread across several North African countries with the highest population in Morocco have been substantially misunderstood and differentially showcased by entities from western-school educated scholars to human, health and women’s rights organizations, to the State to the international community. This paper is an examination of the various conceptualization of the Imazighen. With the popularity of the Arab Spring movement to oust monarchical and dictatorial rulers across the Middle East and North Africa in Morocco, the Moroccan monarchy introduced various reform programs to win public favor. These included social, economic and educational reforms to incorporate marginalized groups such as the Imazighen. The monarchy has ushered Amazigh representation in public offices and landscape through Amazigh script, even though theirs has been an oral culture. After the Arab Spring, the Justice and Development party, an Islamist party took over in Morocco due to its accessibility to the masses, In Sept. 2021, unlike the case of Egypt and Tunisia where military and constitutional means were sought, Morocco successfully removed it from power through the ballot, resulting in a real victory for the neutral monarchy and its representation as a moderate, secular and liberal force for the nation. As a result, supporting the perpetuation of Amazigh linguistic identity also became synonymous to making a secular statement as a Muslim. It has led to the telling of Amazigh identity at state museums as one representing the indigenous, pure, diverse, culturally-rich and united Morocco. Reform efforts have also prioritized an amiable look towards the economic and familial links of Moroccan Jews with the few thousand families still left in the country and a showcasing through museums and cultural centers of the Jewish identity as Moroccan first. In that endeavor, it is interesting to note the coverage of Jews as the indigenous of Morocco through the embracing of their “folk” cultural and religious practices, those that are not continued outside Morocco. In this epistemology, the concept of the Moroccan Jew becomes similar to the indigenous Amazigh, both cherished as the oldest peoples of Morocco and symbols of its unity and resilience. In the urban discourse, Amazigh identity is a concept that continues to be part of the deliberations of elites and scholars graduating from French schools on the incorporation of rural and illiterate Morocco in economic and educational advancement. Yet, with the constant influx of migrants from Western Sahara into cities like Fez and Marrakesh, Amazigh has often been described as the umbrella term of those of “mixed” ethnic ancestry who constitute the country’s free population. In sum, Amazigh identity highlights the changing discourse on marginalized communities, human rights, representation, Moroccan nationhood, and regional and transnational politics. The aim of this paper is to analyze perceptions of Amazigh identity in Morocco post-2021 ousting of the Islamist party using data from state-sponsored museum displays and cultural centers collected in Summer 2022 and scholarly analyses of Amazigh identity, representation and rights in Morocco.Keywords: Amazigh identity, Morocco, representation, state politics
Procedia PDF Downloads 847 Memories of Lost Fathers: The Unfinished Transmission of Generational Values in Hungarian Cinema by Peter Falanga
Authors: Peter Falanga
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During the process of de-Stalinization that began in 1956 with the Twentieth Congress of the Soviet Communist Party, many filmmakers in Hungary chose to explore their country’s political discomforts by using Socialist Realism as a negative model against which they could react to the dominating ideology. A renewed national film industry and a more permissive political regime would allow filmmakers to take to task the plight of the preceding generation who had experienced the fatal political turmoil of both World Wars and the purges of Stalin. What follows is no longer the multigenerational unity found in Socialist Realism wherein both the old and the young embrace Stalin’s revolutionary optimism; instead, the protagonists are parentless, and thus their connection to the previous generation is partially severed. In these films, violent historical forces leave one generation to search for both a connection with their family’s past, and for moral guidance to direct their future. István Szabó’s Father (1966), Márta Mészáros Diary for My Children (1984), and Pál Gábor’s Angi Vera (1978) each consider the fraught relationship between successive generations through the lens of postwar youth. A characteristic each of their protagonist’s share is that they are all missing one or both parents, and cope with familial loss either through recalling memories of their parents in dream-like sequences, or, in the case of Angi Vera, through embracing the surrogate paternalism that the Communist Party promises to provide. This paper considers the argument these films present about the progress of Hungarian history, and how this topic is explored in more recent films that similarly focus on the transmission of generational values. Scholars such as László Strausz and John Cunningham have written on the continuous concern with the transmission of generational values in more recent films such as István Szabó’s Sunshine (1999), Béla Tarr’s Werckmeister Harmonies (2000), György Pálfi’s Taxidermia (2006), Ágnes Kocsis’ Pál Adrienn (2010), and Kornél Mundruczó’s Evolution (2021). These films, they argue, make intimate portrayals of the various sweeping political changes in Hungary’s history and question how these epochs or events have impacted Hungarian identities. If these films attempt to personalize historical shifts of Hungary, then what is the significance of featuring characters who have lost one or both parents? An attempt to understand this coherent trend in Hungarian cinema will profit from examining the earlier, celebrated films of Szabó, Mészáros, and Gábor, who inaugurated this preoccupation with generational values. The pervasive interplay of dreams and memory in their films invites an additional element to their argument concerning historical progression. This paper incorporates Richard Teniman’s notion of the “dialectics of memory” in which memory is in a constant process of negation and reinvention to explain why these Directors prefer to explore Hungarian identity through the disarranged form of psychological realism over the linear causality structure of historical realism.Keywords: film theory, Eastern European Studies, film history, Eastern European History
Procedia PDF Downloads 1126 Understanding Different Facets of Chromosome Abnormalities: A 17-year Cytogenetic Study and Indian Perspectives
Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh
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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study
Procedia PDF Downloads 3105 Critiquing Israel as Child Abuse: How Colonial White Feminism Disrupts Critical Pedagogies of Culturally Responsive and Relevant Practices and Inclusion through Ongoing and Historical Maternalism and Neoliberal Settler Colonialism
Authors: Wafaa Hasan
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In May of 2022, Palestinian parents in Toronto, Canada, became aware that educators and staff in the Toronto District School Board were attempting to include the International Holocaust and Remembrance Definition of Antisemitism (IHRA) in The Child Abuse and Neglect Policy of the largest school board in Canada, The Toronto District School Board (TDSB). The idea was that if students were to express any form of antisemitism, as defined by the IHRA, then an investigation could follow with Child Protective Services (CPS). That is, the student’s parents could be reported to the state and investigated for custodial rights to their children. The TDSB has set apparent goals for “Decolonizing Pedagogy” (“TDSB Equity Leadership Competencies”), Culturally Responsive and Relevant Practices (CRRP) and inclusive education. These goals promote the centering of colonized, racialized and marginalized voices. CRRP cannot be effective without the application of anti-racist and settler colonial analyses. In order for CRRP to be effective, school boards need a comprehensive understanding of the ways in which the vilification of Palestinians operates through anti-indigenous and white supremacist systems and logic. Otherwise, their inclusion will always be in tension with the inclusion of settler colonial agendas and worldviews. Feminist maternalism frames racial mothering as degenerate (viewing the contributions of racialized students and their parents as products of primitive and violent cultures) and also indirectly inhibits the actualization of the tenets of CRRP and inclusive education through its extensions into the welfare state and public education. The contradiction between the tenets of CRRP and settler colonial systems of erasure and repression is resolved by the continuation of tactics to 1) force assimilation, 2) punish those who push back on that assimilation and 3) literally fragment familial and community structures of racialized students, educators and parents. This paper draws on interdisciplinary (history, philosophy, anthropology) critiques of white feminist “maternalism” from the 19th century onwards in North America and Europe (Jacobs, Weber), as well as “anti-racist education” theory (Dei), and more specifically,” culturally responsive learning,” (Muhammad) and “bandwidth” pedagogy theory (Verschelden) to make its claims. This research contributes to vibrant debates about anti-racist and decolonial pedagogies in public education systems globally. This paper also documents first-hand interviews and experiences of diasporic Palestinian mothers and motherhoods and situates their experiences within longstanding histories of white feminist maternalist (and eugenicist) politics. This informal qualitative data from "participatory conversations" (Swain) is situated within a set of formal interview data collected with Palestinian women in the West Bank (approved by the McMaster University Humanities Research Ethics Board) relating to white feminist maternalism in the peace and dialogue industry.Keywords: decolonial feminism, maternal feminism, anti-racist pedagogies, settler colonial studies, motherhood studies, pedagogy theory, cultural theory
Procedia PDF Downloads 664 Provision of Afterschool Programs: Understanding the Educational Needs and Outcomes of Newcomer and Refugee Students in Canada
Authors: Edward Shizha, Edward Makwarimba
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Newcomer and refugee youth feel excluded in the education system in Canada, and the formal education environment does not fully cater for their learning needs. The objective of this study was to build knowledge and understanding of the educational needs and experiences of these youth in Canada and how available afterschool programs can most effectively support their learning needs and academic outcomes. The Employment and Social Development Canada (ESDC), which funded this research, enables and empowers students to advance their educational experience through targeted investments in services that are delivered by youth-serving organizations outside the formal education system through afterschool initiatives. A literature review and a provincial/territorial internet scan were conducted to determine the availability of services and programs that serve the educational needs and academic outcomes of newcomer youth in 10 provinces and 3 territories in Canada. The goal was to identify intersectional factors (e.g., gender, sexuality, culture, social class, race, etc.) that influence educational outcomes of newcomer/refugee students and to recommend ways the ESDC could complement settlement services to enhance students’ educational success. First, data was collected through a literature search of various databases, including PubMed, Web of Science, Scopus, Google docs, ACADEMIA, and grey literature, including government documents, to inform our analysis. Second, a provincial/territorial internet scan was conducted using a template that was created by ESDC staff with the input of the researchers. The objective of the web-search scan was to identify afterschool programs, projects, and initiatives offered to newcomer/refugee youth by service provider organizations. The method for the scan included both qualitative and quantitative data gathering. Both the literature review and the provincial/territorial scan revealed that there are gender disparities in educational outcomes of newcomer and refugee youth. High school completion rates by gender show that boys are at higher risk of not graduating than girls and that girls are more likely than boys to have at least a high school diploma and more likely to proceed to postsecondary education. Findings from literature reveal that afterschool programs are required for refugee youth who experience mental health challenges and miss out on significant periods of schooling, which affect attendance, participation, and graduation from high school. However, some refugee youth use their resilience and ambition to succeed in their educational outcomes. Another finding showed that some immigrant/refugee students, through ethnic organizations and familial affiliation, maintain aspects of their cultural values, parental expectations and ambitious expectations for their own careers to succeed in both high school and postsecondary education. The study found a significant combination of afterschool programs that include academic support, scholarships, bursaries, homework support, career readiness, internships, mentorship, tutoring, non-clinical counselling, mental health and social well-being support, language skills, volunteering opportunities, community connections, peer networking, culturally relevant services etc. These programs assist newcomer youth to develop self-confidence and prepare for academic success and future career development. The study concluded that advantages of afterschool programs are greatest for youth at risk for poor educational outcomes, such as Latino and Black youth, including 2SLGBTQI+ immigrant youth.Keywords: afterschool programs, educational outcomes, newcomer youth, refugee youth, youth-serving organizations
Procedia PDF Downloads 683 Large-scale GWAS Investigating Genetic Contributions to Queerness Will Decrease Stigma Against LGBTQ+ Communities
Authors: Paul J. McKay
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Large-scale genome-wide association studies (GWAS) investigating genetic contributions to sexual orientation and gender identity are largely lacking and may reduce stigma experienced in the LGBTQ+ community by providing an underlying biological explanation for queerness. While there is a growing consensus within the scientific community that genetic makeup contributes – at least in part – to sexual orientation and gender identity, there is a marked lack of genomics research exploring polygenic contributions to queerness. Based on recent (2019) findings from a large-scale GWAS investigating the genetic architecture of same-sex sexual behavior, and various additional peer-reviewed publications detailing novel insights into the molecular mechanisms of sexual orientation and gender identity, we hypothesize that sexual orientation and gender identity are complex, multifactorial, and polygenic; meaning that many genetic factors contribute to these phenomena, and environmental factors play a possible role through epigenetic modulation. In recent years, large-scale GWAS studies have been paramount to our modern understanding of many other complex human traits, such as in the case of autism spectrum disorder (ASD). Despite possible benefits of such research, including reduced stigma towards queer people, improved outcomes for LGBTQ+ in familial, socio-cultural, and political contexts, and improved access to healthcare (particularly for trans populations); important risks and considerations remain surrounding this type of research. To mitigate possibilities such as invalidation of the queer identities of existing LGBTQ+ individuals, genetic discrimination, or the possibility of euthanasia of embryos with a genetic predisposition to queerness (through reproductive technologies like IVF and/or gene-editing in utero), we propose a community-engaged research (CER) framework which emphasizes the privacy and confidentiality of research participants. Importantly, the historical legacy of scientific research attempting to pathologize queerness (in particular, falsely equating gender variance to mental illness) must be acknowledged to ensure any future research conducted in this realm does not propagate notions of homophobia, transphobia or stigma against queer people. Ultimately, in a world where same-sex sexual activity is criminalized in 69 UN member states, with 67 of these states imposing imprisonment, 8 imposing public flogging, 6 (Brunei, Iran, Mauritania, Nigeria, Saudi Arabia, Yemen) invoking the death penalty, and another 5 (Afghanistan, Pakistan, Qatar, Somalia, United Arab Emirates) possibly invoking the death penalty, the importance of this research cannot be understated, as finding a biological basis for queerness would directly oppose the harmful rhetoric that “being LGBTQ+ is a choice.” Anti-trans legislation is similarly widespread: In the United States in 2022 alone (as of Oct. 13), 155 anti-trans bills have been introduced preventing trans girls and women from playing on female sports teams, barring trans youth from using bathrooms and locker rooms that align with their gender identity, banning access to gender affirming medical care (e.g., hormone-replacement therapy, gender-affirming surgeries), and imposing legal restrictions on name changes. Understanding that a general lack of knowledge about the biological basis of queerness may be a contributing factor to the societal stigma faced by gender and sexual orientation minorities, we propose the initiation of large-scale GWAS studies investigating the genetic basis of gender identity and sexual orientation.Keywords: genome-wide association studies (GWAS), sexual and gender minorities (SGM), polygenicity, community-engaged research (CER)
Procedia PDF Downloads 652 Exploring Factors That May Contribute to the Underdiagnosis of Hereditary Transthyretin Amyloidosis in African American Patients
Authors: Kelsi Hagerty, Ami Rosen, Aaliyah Heyward, Nadia Ali, Emily Brown, Erin Demo, Yue Guan, Modele Ogunniyi, Brianna McDaniels, Alanna Morris, Kunal Bhatt
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Hereditary transthyretin amyloidosis (hATTR) is a progressive, multi-systemic, and life-threatening disease caused by a disruption in the TTR protein that delivers thyroxine and retinol to the liver. This disruption causes the protein to misfold into amyloid fibrils, leading to the accumulation of the amyloid fibrils in the heart, nerves, and GI tract. Over 130 variants in the TTR gene are known to cause hATTR. The Val122Ile variant is the most common in the United States and is seen almost exclusively in people of African descent. TTR variants are inherited in an autosomal dominant fashion and have incomplete penetrance and variable expressivity. Individuals with hATTR may exhibit symptoms from as early as 30 years to as late as 80 years of age. hATTR is characterized by a wide range of clinical symptoms such as cardiomyopathy, neuropathy, carpal tunnel syndrome, and GI complications. Without treatment, hATTR leads to progressive disease and can ultimately lead to heart failure. hATTR disproportionately affects individuals of African descent; the estimated prevalence of hATTR among Black individuals in the US is 3.4%. Unfortunately, hATTR is often underdiagnosed and misdiagnosed because many symptoms of the disease overlap with other cardiac conditions. Due to the progressive nature of the disease, multi-systemic manifestations that can lead to a shortened lifespan, and the availability of free genetic testing and promising FDA-approved therapies that enhance treatability, early identification of individuals with a pathogenic hATTR variant is important, as this can significantly impact medical management for patients and their relatives. Furthermore, recent literature suggests that TTR genetic testing should be performed in all patients with suspicion of TTR-related cardiomyopathy, regardless of age, and that follow-up with genetic counseling services is recommended. Relatives of patients with hATTR benefit from genetic testing because testing can identify carriers early and allow relatives to receive regular screening and management. Despite the striking prevalence of hATTR among Black individuals, hATTR remains underdiagnosed in this patient population, and germline genetic testing for hATTR in Black individuals seems to be underrepresented, though the reasons for this have not yet been brought to light. Historically, Black patients experience a number of barriers to seeking healthcare that has been hypothesized to perpetuate the underdiagnosis of hATTR, such as lack of access and mistrust of healthcare professionals. Prior research has described a myriad of factors that shape an individual’s decision about whether to pursue presymptomatic genetic testing for a familial pathogenic variant, such as family closeness and communication, family dynamics, and a desire to inform other family members about potential health risks. This study explores these factors through 10 in-depth interviews with patients with hATTR about what factors may be contributing to the underdiagnosis of hATTR in the Black population. Participants were selected from the Emory University Amyloidosis clinic based on having a molecular diagnosis of hATTR. Interviews were recorded and transcribed verbatim, then coded using MAXQDA software. Thematic analysis was completed to draw commonalities between participants. Upon preliminary analysis, several themes have emerged. Barriers identified include i) Misdiagnosis and a prolonged diagnostic odyssey, ii) Family communication and dynamics surrounding health issues, iii) Perceptions of healthcare and one’s own health risks, and iv) The need for more intimate provider-patient relationships and communication. Overall, this study gleaned valuable insight from members of the Black community about possible factors contributing to the underdiagnosis of hATTR, as well as potential solutions to go about resolving this issue.Keywords: cardiac amyloidosis, heart failure, TTR, genetic testing
Procedia PDF Downloads 931 Modern Day Second Generation Military Filipino Amerasians and Ghosts of the U.S. Military Prostitution System in West Central Luzon's 'AMO Amerasian Triangle'
Authors: P. C. Kutschera, Elena C. Tesoro, Mary Grace Talamera-Sandico, Jose Maria G. Pelayo III
Abstract:
Second generation military Filipino Amerasians comprise a formidable contemporary segment of the estimated 250,000-plus biracial Amerasians in the Philippines today. Overall, they are a stigmatized and socioeconomically marginalized diaspora, historically; they were abandoned or estranged by U.S. military personnel fathers assigned during the century-long Colonial, Post-World War II and Cold War Era of permanent military basing (1898-1992). Indeed, U.S. military personnel remain stationed in smaller numbers in the Philippines today. This inquiry is an outgrowth of two recent small sample studies. The first surfaced the impact of the U.S. military prostitution system on formation of the ‘Derivative Amerasian Family Construct’ on first generation Amerasians; a second, qualitative case study suggested the continued effect of the prostitution systems' destructive impetuous on second generation Amerasians. The intent of this current qualitative, multiple-case study was to actively seek out second generation sex industry toilers. The purpose was to focus further on this human phenomenon in the post-basing and post-military prostitution system eras. As background, the former military prostitution apparatus has transformed into a modern dynamic of rampant sex tourism and prostitution nationwide. This is characterized by hotel and resorts offering unrestricted carnal access, urban and provincial brothels (casas), discos, bars and pickup clubs, massage parlors, local barrio karaoke bars and street prostitution. A small case study sample (N = 4) of female and male second generation Amerasians were selected. Sample formation employed a non-probability ‘snowball’ technique drawing respondents from the notorious Angeles, Metro Manila, Olongapo City ‘AMO Amerasian Triangle’ where most former U.S. military installations were sited and modern sex tourism thrives. A six-month study and analysis of in-depth interviews of female and male sex laborers, their families and peers revealed a litany of disturbing, and troublesome experiences. Results showed profiles of debilitating human poverty, history of family disorganization, stigmatization, social marginalization and the ghost of the military prostitution system and its harmful legacy on Amerasian family units. Emerging were testimonials of wayward young people ensnared in a maelstrom of deep economic deprivation, familial dysfunction, psychological desperation and societal indifference. The paper recommends that more study is needed and implications of unstudied psychosocial and socioeconomic experiences of distressed younger generations of military Amerasians require specific research. Heretofore apathetic or disengaged U.S. institutions need to confront the issue and formulate activist and solution-oriented social welfare, human services and immigration easement policies and alternatives. These institutions specifically include academic and social science research agencies, corporate foundations, the U.S. Congress, and Departments of State, Defense and Health and Human Services, and Homeland Security (i.e. Citizen and Immigration Services) It is them who continue to endorse a laissez-faire policy of non-involvement over the entire Filipino Amerasian question. Such apathy, the paper concludes, relegates this consequential but neglected blood progeny to the status of humiliating destitution and exploitation. Amerasians; thus, remain entrapped in their former colonial, and neo-colonial habitat. Ironically, they are unwitting victims of a U.S. American homeland that fancies itself geo-politically as a strong and strategic military treaty ally of the Philippines in the Western Pacific.Keywords: Asian Americans, diaspora, Filipino Amerasians, military prostitution, stigmatization
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