Roundtable Sessions Research Articles

The future of EFL teachers’ professional development in Türkiye: A Swot Analysis

A clear understanding of teachers' continuing professional development (CPD) needs is crucial for planning appropriate in-service training activities. The study adopts a qualitative approach, utilizing a methodology centered around roundtable discussions that integrate a SWOT matrix for a comprehensive analysis of English as a foreign language (EFL) teachers' CPD needs. The inductive content analysis approach to the data (Strauss and Corbin, 1990), specifically within the deductive structure of the four broad categories of SWOT component was applied, followed by a thematic approach (Merriam and Tisdell, 2016). Engaging five experienced K–12 EFL teachers across three consecutive roundtable sessions to explore both advantageous and challenging internal and external factors and propose solutions, this study highlights the utility of the SWOT analysis as an effective tool in needs assessment. The framework emerging from unified recommendations suggests fostering informal CPD avenues, such as communities of practice and opportunities for teacher mobility. The study concludes with forward-looking recommendations urging policymakers to develop cohesive CPD programs tailored for EFL teachers in public schools in Türkiye. These recommendations could potentially be generalized, enabling local and national educational institutions and organizations to provide effective CPD avenues for EFL teachers

Value of Medical Writing—Using the Regulator’s Perspective (2021 Survey Results) to Educate and Empower Medical Writers

In 2021, an American Medical Writers Association (AMWA) working group conducted a survey to gain an understanding of how regulatory agencies perceive the value of medical writing. The survey showed that document quality is extremely important to the timely and efficient review of an application and identified key factors affecting document quality that negatively impact application approval. In response to this, a working group ran a series of roundtables at the AMWA and European Medical Writers Association conferences to gather opinions from medical writers about this survey and how we can best communicate these ideas to authoring teams. This article discusses the feedback obtained in those roundtable sessions and presents the working group’s proposal for a set of resources to empower medical writers to implement change.

Egyptian Vulture Online Conference Roundtable Sessions

Abstracts in fulltexts.

Minimizing Data Waste: Conservation in the Big Data Era

Minimizing Data Waste: Conservation in the Big Data Era

Toward Public Health Resilience in the Eastern Mediterranean Region: Findings From the Seventh Eastern Mediterranean Public Health Network Regional Conference.

The resilience of public health in the Eastern Mediterranean Region (EMR) varies from country to country, mostly based on the governmental and financial situation of the countries. With the theme of Towards Public Health Resilience in the EMR: Breaking Barriers, the seventh Eastern Mediterranean Public Health Network regional conference, held from November 14 to 18, 2021, was dedicated to exploring ways for achieving public health resilience. A total of 101 oral presentations and 13 poster presentations were presented on various public health topics. The conference included 6 keynote sessions, 10 roundtable sessions, and 5 preconference workshops. The preconference workshops were conducted on border health; the mobilization of Field Epidemiology Training Program (FETP) residents and graduates and rapid responders in EMR countries; continuous professional development for the public health workforce; brucellosis surveillance using the "One Health" approach; and strategies to integrate and use noncommunicable diseases data sources. The roundtable sessions included discussions on the following topics: the role of FETPs in responding to COVID-19, institutionalization of rapid response to public health emergencies, health systems resilience, integration of early warning and response with event-based and indicator-based surveillance, sustaining international health regulations, strengthening the "One Health" approach, the anticipated future of public health in the post COVID-19 era, supporting public health research capacity in a diverse region, and COVID-19 vaccines and routine immunization synergies and drawbacks. The keynote speaker sessions covered topics on essential public health functions and the universal health coverage challenge in the EMR, lessons from the US COVID-19 public health response, learning from COVID-19, reshaping public health after the pandemic era, COVID-19 resilient primary health care, and the cohesion of society during and after a pandemic. The conference sessions provided highly promising opportunities to explore ways to achieve such goals in the EMR and shed light on the latest scientific findings, important lessons learned, and discussions on the ways in which current barriers can be broken down through coordination and collaboration.

ИНОСТРАННЫЙ ЯЗЫК ДЛЯ ИСКУССТВОВЕДОВ: НЕКОТОРЫЕ АСПЕКТЫ ПРЕПОДАВАНИЯ ТЕМЫ "ИСКУССТВО РЕНЕССАНСА" НА АНГЛИЙСКОМ ЯЗЫКЕ

The present article discusses issues related to the analysis of the Renaissance study while developing students’ language proficiency at Art History Department. The diversity of the topic dictates the need to search for new developments of the course in order to achieve better results in acquiring a professionally oriented foreign language. The study of the Renaissance heritage takes place within the framework of a methodically sound and logically structured course, which includes particular language tools. These are the creation of a period’s “mental map”; studying videos; reading, analyzing and critically comprehending various texts’ types; translating, abstracting and summarizing articles; conducting a formal and historical analysis of the masterpieces of the studied era; discussing the global heritage of the Renaissance in the round table sessions. The combination of traditional methods of studying a foreign language and creative innovations in the development of the Renaissance theme makes the course interesting and productive. Employing the toolkit aimed at studying Renaissance in a foreign language tends to create favorable conditions that motivate students to obtain both a professionally oriented language and in-depth knowledge of art history enabling universities to train experts who will be able to respond to the challenges of the time.

Negotiating Better Worlds in the ‘Anthropocene’: Critical Histories and Future Livelihoods

This symposium provides an opportunity to discuss, with a distinguished panel of scholars, some of the challenges for business and management arising from the epoch of the Anthropocene, developing things we have learned about organization from the experience of COVID-19. Presentations will address three principal challenges: (a) how to 'open up' negotiations with materials and practices (meat, plastics, animals, guns, food, clothing) that have been typically neglected in the standard histories of modern business and management in an effort to explain: how did we get here? (b) how management and organization studies can develop sustainable and cooperative models of working and living together in the Anthropocene based on these negotiations; and (c) assess what the future of work and management will look like in the Anthropocene by drawing on recent studies of contemporary but non-standard and non-modern business practices. The panel presentations are followed by interactive discussions and dialogues across the panel and with audience members. Each round-table is led by a chair and supported by a discussant. The round table sessions will allow participants to share ideas and critical reflections on living together in the Anthropocene. Man v Meat: The Hidden Anthropocene of Three Fleshly Case Studies Presenter: Bill Cooke; U. of York These Lips are No Longer Sealed: Restorying Non-Corporeal Connections Through Seal Hunting Presenter: Shelley Price; Gustavson School of Business, U. of Victoria French absolutist military technology: Fossil fuels, guns, and military Keynesianism Presenter: Richard Marens; California State U. Sacramento Clothing Ourselves in Hot Climates: Oulipean Experiments and Crafty Practices Presenter: Marta Gasparin; Copenhagen Business School Researching Ocean Plastic Pollution: A patchy road to Anthropocene knowledge-making in MOS Presenter: Seray Ergene; U. of Rhode Island Dee Constructing Organization: Fermenting Ethno-geomorphology and Becoming Activist Presenter: Damian O'Doherty; Critical Management Studies

Child disability and family-centred care in East Africa: Perspectives from a workshop with stakeholders and health practitioners.

BackgroundOur understanding of child disability has undergone major changes over the last three decades transforming our approach to assessment and management. Globally there are significant gaps in the application of these 21st century models of care. There is recognition that economic, cultural, and social factors influence transitions in care and there is need to consider contextual factors.ObjectivesA two-day workshop brought together key stakeholders to discuss current models of care and their application in the East African context. This article summarises workshop proceedings and identifies a broadly supported set of recommendations that serve to set a direction for health professionals, families, family-based disability organisations, communities and government.MethodPresentations followed by facilitated round-table sessions explored specific themes with participants reporting their responses communally. Future actions were agreed upon by relevant stakeholders.ResultsMany barriers exist to care for children with disabilities in East Africa, including stigma and a lack of human and infrastructural resources. In addition, significant disparities exist with regard to access to medication and specialist care. The International Classification of Functioning framework needs to be translated to clinical practice within East Africa, with due recognition of the importance of family-centred care and emphasis on the life course theory for disability care. Family-centred care, educational initiatives, advocacy on the part of stakeholders and involvement of government policymakers are important avenues to improve outcomes.ConclusionFurther education and data are needed to inform family-centred care and multidisciplinary team implementation across East African care contexts for children with disabilities.

Maintenance and Generalization of Lexical Items in Primary Progressive Aphasia: Reflections From the Roundtable Discussion at the 2021 Clinical Aphasiology Conference.

Our capacity to engage in society and maintain meaningful relationships is dependent on intact communication skills. They are compromised in a neurodegenerative language disorder termed primary progressive aphasia (PPA). Behavioral interventions for PPA are sparse and often limited to impairment-based approaches or communication skills training, although various functional interventions have been also described. The slow but relentless language decline does not naturally support maintenance and/or generalization of treatment gains, which should be the ultimate goal of any therapy. However, in some cases and under certain conditions, maintenance and generalization may be accomplished. While each type of intervention has much to offer to the PPA population, the clinical and research realms can benefit from a collective professional discussion on aspects of intervention conducive to maintenance and/or generalization of treatment gains in PPA. Such a discussion took place at the 2021 Clinical Aphasiology Conference during two roundtable sessions. The aims of the sessions were to review the premises of successful treatment approaches in PPA and to discuss factors fostering or inhibiting maintenance and generalization in PPA. Current literature delivers, albeit in small doses, encouraging evidence for clinicians providing language intervention to patients with PPA. Although PPA is a progressive disorder, both the immediate treatment effects and, in many cases, evidence of maintenance and generalization demonstrate that improvements may be long lasting and transferrable. Several factors may enhance maintenance and generalization effects, including repeated practice, working with multiple exemplars of treatment items, booster sessions, group programs with built-in individual sessions, spared semantics, and personal relevance, to name a few. With this evidence in hand, we need to become more diligent about measuring and reporting clinical outcomes and delivering interventions that support maintenance and generalization of therapeutic gains beyond the clinician's office. https://doi.org/10.23641/asha.19836370.

Conducting and Publishing Research in Developing Countries: Challenges and Solutions

AbstractMost of the knowledge in the library and information science (LIS) discipline is created and published by researchers in developed countries. Two roundtable sessions of ASIS&T SIG‐III with the ASIS&T Africa Chapter and ASIS&T South Asia Chapter, in early 2021, confirmed “the lack of a conducive research environment” as the primary reason for this inequality in the discipline and called for systematic efforts, like this panel, to (a) create awareness about this inequality and (b) start building a global support system for LIS researchers in developing countries. In the first 30 minutes of this panel, six LIS scholars with cultural roots, academic training, and research experience in developing countries will illustrate common challenges to conducting and publishing research in developing countries. In the next 30 minutes, attendees will be divided into groups, with each group facilitated by a panelist, to brainstorm solutions for addressing the challenges related to academic training for conducting and publishing research, accessing resources, institutional support, opportunities for research collaboration and funding, fieldwork, analyzing data, composing manuscripts, and finding mentors, among others. In the last 30 minutes, each group will present its findings.

Unfettering discussions about social justice: the role of conversational prompts in discussions about mathematics education for Indigenous students

To increase possibilities for listening respectfully to Indigenous educators, there is a need to identify conversational prompts which are used to raise alternative views of social justice about mathematics education for Indigenous students. Using Nancy Fraser’s description of abnormal social justice, an analysis was made of transcripts from round table sessions, at an Indigenous mathematics education conference. This analysis identified a number of conversational prompts that enabled shifts from normal to abnormal discussions about social justice. Normal discussions exhibited assumptions in which mathematics was valued as a Western domain of knowledge; cultural examples could be used as vehicles to teach mathematics; and decisions about education for Indigenous students should be made by external authorities. In abnormal discussions, these assumptions were queried and alternative possibilities arose. The conversational prompts, which initiated this querying, occurred in a number of ways, including the telling of stories and the asking of questions that either directly or indirectly challenged normal justice discourses about Indigenous students’ learning of mathematics. Identifying conversational prompts can assist non-Indigenous mathematics educators, who wish to be allies, to challenge their own and others’ assumptions about normal social justice issues related to mathematics education for Indigenous students.

Adoption of Green Building Assessment Systems to Existing Buildings under Kazakhstani Conditions

The construction industry is an enormous economic sector with a profound economic, social, and environmental impact. The building sector is responsible for one-third of total energy consumption and, notably, construction activities account for 39% of the total carbon emissions in the world. Therefore, nowadays, the promotion of green building concepts is essential for all countries. Typically, the sustainability level of a building is evaluated by specified certification systems through rating assessment tools. The development of national assessment tools is necessary for the developing world due to environmental, social, and economic issues; consequently, a national assessment tool adopted under specific local conditions would provide a more precise assessment. This paper analyzes the rating system of BREEAM, LEED, CASBEE, and Green Globes certification systems and discusses their adoption with assessment measures for the existing buildings in Kazakhstan’s reality. The following main criteria were discussed during six roundtable sessions: sustainable site and landscape, energy and carbon footprint reduction, water and wastewater management, indoor environmental quality, sustainable building materials, commissioning, and maintenance. A set of assessment criteria and measures were suggested, and 43 existing buildings were assessed. Only eight buildings reached a high rating level. The “sustainable site and landscape” and “indoor environmental air quality” categories were the categories with the highest scores; otherwise, “energy and carbon footprint reduction” with “water and wastewater management” had the lowest average scores. One of the buildings was evaluated separately by several experts to check the consistency of the suggested assessment measures. This evaluation also provided insight into how the assessors’ knowledge and experience may change the overall rating scores obtained. The most critical issues for the existing buildings in Kazakhstan’s reality were discussed. Despite the widespread adoption of green certification methodology, the application of global certification systems in Kazakhstan remains complicated due to the lack of knowledge and limited awareness.

Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico.

PURPOSEGenomic cancer risk assessment (GCRA) is standard-of-care practice that uses genomic tools to identify individuals with increased cancer risk, enabling screening for early detection and cancer prevention interventions. GCRA is not available in most of Mexico, where breast cancer (BC) is the leading cause of cancer death and ovarian cancer has a high mortality rate.METHODSGuided by an implementation science framework, we piloted the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) intervention, combining GCRA training, practice support, and low-cost BRCA1/2 (BRCA) gene testing at four centers in Mexico. The RE-AIM model was adapted to evaluate GRACIAS intervention outcomes, including reach, the proportion of new patients meeting adapted National Comprehensive Cancer Network criteria who participated in GCRA. Barriers to GCRA were identified through roundtable sessions and semistructured interviews.RESULTSEleven clinicians were trained across four sites. Mean pre-post knowledge score increased from 60% to 67.2% (range 53%-86%). GCRA self-efficacy scores increased by 31% (95% CI, 6.47 to 55.54; P = .02). Participant feedback recommended Spanish content to improve learning. GRACIAS promoted reach at all sites: 77% in Universidad de Guadalajara, 86% in Instituto Nacional de Cancerología, 90% in Tecnológico de Monterrey, and 77% in Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Overall, a pathogenic BRCA variant was identified in 15.6% (195 of 1,253) of patients. All trainees continue to provide GCRA and address barriers to care.CONCLUSIONWe describe the first project to use implementation science methods to develop and deliver an innovative multicomponent implementation intervention, combining low-cost BRCA testing, comprehensive GCRA training, and practice support in Mexico. Scale-up of the GRACIAS intervention will promote risk-appropriate care, cancer prevention, and reduction in related mortality.

How to manage endings in unsuccessful therapy: A qualitative comparison of youth and clinician perspectives

ABSTRACT Background: Approximately half of those who access child and adolescent mental health services do not show measurable improvement in symptoms. This study aimed to provide practice recommendations for managing treatment endings, particularly when outcomes have not improved. Method: Semi-structured interviews were carried out with 26 young people with a history of anxiety and/or depression along with 7 roundtable sessions with 52 mental health clinicians. Data were analyzed using Framework Analysis. Results: A common experience for young people when outcomes did not improve was a poor experience of the treatment ending, which often resulted in setbacks in their mental health and feelings of loss and abandonment. Clinicians agreed that ending was hard for young people and reported that they found managing ending hard on a personal and professional level. This was compounded by unrealistically high public expectations about the impact of therapy on outcomes and trying to strike a balance between fostering hope and managing expectations, within a context of inflexible service structures and resource constraint. Implications: Recommendations include establishing expectations from the outset and a shared understanding of what outcomes matter most to the young person. This can be achieved through communicating honestly about likely outcomes, while also providing hope.

Weight Can't Wait: A Guide to Discussing Obesity and Organizing Treatment in the Primary Care Setting.

The objective of this study was to develop a simple and practical guide for discussing and managing obesity in primary care settings. This study convened representatives from 12 primary care and obesity specialty organizations for a series of roundtable meetings to discuss the key components of obesity treatment in primary care. Attendees identified the need for a guide for primary care providers that outlined the key steps for discussing obesity with patients and managing their care while recognizing the significant time constraints on such provider/patient encounters. Prevailing themes from the roundtable sessions suggested that the key components of addressing obesity in primary care settings are obtaining patient permission, addressing weight bias, providing a diagnosis, and emphasizing shared decision-making. A modified "6A" framework with the steps "Ask," "Assess," "Advise," "Agree," "Assist," and "Arrange" was deemed appropriate to organize the process of weight management in primary care. An algorithm was developed to provide a script for the patient/provider encounter. The expert panel developed a short, accessible, practical, and informative guide for obesity management by primary care clinicians. Efforts are under way to disseminate the guide to primary care providers through the 11 participating organizations that have endorsed it.

4th Mathematics, Informatics, Science and Education International Conference

The 4th Mathematics, Informatics, Science and Education International Conference was successfully held on October 3, 2020 at Universitas Negeri Surabaya, Surabaya, East Java, Indonesia. This conference was organized by Universitas Negeri Surabaya. The 4th MISEIC was the first conference in the history of MISEIC which was completely conducted using a digital platform in line with the social distancing norms due to the COVID-19 breakout. The theme for the 4th MISEIC was “Advancing Research on Mathematics, Informatics, Science and Education for Building a Better Society”. Using the theme, the 4th MISEIC invited scientists, education experts, practitioners, and students through this scientific forum to share their ideas, research findings, and issues about theoretical and practical knowledge in Mathematics, Informatics, Science, and STEM education. Their shared ideas were expected to have important contributions for building “a better society”, such as solving problems caused by, but not limited to, the pandemic situations.This year, MISEIC was held in the form of An International Joint Conference on Science, Technology, Art, and Humanities. The joint conference merged five Universitas Negeri Surabaya-organized conferences into one major event which was held on 3rd to 4th of October 2020. The joint conference included the 4th MISEIC, the 3rd International Conference on Vocation Education and Electrical Engineering (ICVEE), the 4th International Conference on Education Innovation (ICEI), the 2nd International Conference on Research and Academic Community Services (ICRACOS), and the 1st International Conference on Cultural Studies and Applied Linguistics (ICCSAL). The first day was dedicated to the conferences which have scopes focused on Science and Technology, namely MISEIC, ICVEE, and ICRACOS, whereas the second day represented Art and Humanities-focused conferences. In this joint conference, each individual conference was represented by one keynote and one or more speakers from overseas universities or institutions. However, the joint conference was organized only for the meeting day. Practically, each supporting conference had its own brochure, website, and article management system. The modification from an individual conference into the joint conference was conducted because of reallocation of academic budget to COVID-19 aids.The joint conference was completely conducted online using Zoom as a platform. Similar to offline form, the online joint conference included plenary and roundtable sessions. In the plenary session, each keynote speaker delivered a talk directly on the Zoom within 30 minutes. This session was also broadcasted live via an official YouTube channel of Universitas Negeri Surabaya. Each talk was followed by live Question and Answer (Q&A) for 15 minutes. Participants were offered to deliver their questions to each keynote speaker using oral or written forms on the Zoom or via live chat on YouTube.After one hour break, the roundtable sessions were conducted and organized by each individual supporting conference. For MISEIC, these roundtable sessions were preceded by a 20-minute live talk on the Zoom from an invited speaker. This session invited particularly all presenters and participants of the 4th MISEIC. The live Q&A for this forum was held using oral and written forms on the Zoom and lasted for 10 minutes. At the end of the session, each MISEIC presenter was assigned to a particular roundtable discussion room based on the ID shown in the Zoom. The committee provided 10 roundtable discussion rooms to accommodate all MISEIC’s presenters. Each room consisted of one moderator, one IT technician, 8-9 presenters, and some participants. There were three sessions in each roundtable discussion room which lasted for 50 minutes for each session comprising of 25 minutes for presenters’ video presentations and 25 minutes for live Q&A via Zoom. Preceding to the conference day, each MISEIC’s presenter was required to submit a seven-minute video presentation to a link which was provided by the committee. The decision to use a video instead of a live presentation was taken in order to avoid delay during the presenters’ presentation due to internet connection problems.List of Technical Program Committee, Conference Overview, Images are available in this pdf.

Practising person-centred care. Selected abstracts from the virtual 26th WONCA Europe conference, 6–10 July 2021

Background From 6 to 10 July 2021, WONCA Europe and the Dutch College of General Practitioners as host organiser welcomed 1,266 family physicians/general practitioners, teachers, researchers, and students from 66 countries interested in sharing knowledge, experience and innovations in primary healthcare. Methods In cohesive sets of plenary presentations, round table sessions, and research masterclasses, aspects of patient care, research, and education around Practicing Person-Centred Care were presented and discussed. Actual topics in primary care such as covid-19, e-health and professional health, were covered in oral presentation sessions, one slide 5-minutes presentations, case presentations by young doctors and the e-poster gallery. All sessions were recorded and available on-demand for registrants until three months after the conference. All accepted abstracts have been published in the abstract book [https://www.woncaeurope.org/page/past-conference-abstract-books]. For this Journal, we selected the top 20 abstracts based on reviewers scores (mean of 3.5 or higher on a scale of 4) and consensus among members of the Scientific Committee. Results The selected abstracts are divided into the following themes: (1) clinical topics often encountered in primary care, such as acute chest pain, urinary tract infections, dementia, and covid-19 (N = 5); (2) personalised care and related issues such as addressing multimorbidity (N = 2); shared decision making and patient empowerment (N = 4); (3) overdiagnosis and overtreatment, focusing on deprescribing (N = 2); (4) health promotion and prevention, including mental health (N = 2); (5) quality and safety (N = 2); (6) professional development and education (N = 1); (7) research and innovation, including teleconsultation (N = 2).

International Symposium on Reproductive Health: overcoming barriers for research in reproduction

Accumulating evidence suggests that parental health, even before conception, may affect offspring development. Stressful environments during critical periods of growth and development that include preconception, pregnancy, and early childhood could cause long-term effects that may impact offspring’s health. These environmental factors may include maternal and paternal metabolic and endocrine health, exposure to endocrine disruptors, pollutants, environmental stressors and chemicals, and also the use of assisted reproductive techniques (ARTs), among others. Periconceptional and prenatal care are crucial to improving infants’ development and health and preventing adult diseases, such as diabetes, neurocognitive, and other multifactorial and complex disorders. Although increasing attention has been given to prenatal care management in the last years, there are still disparities among nations in terms of access to healthcare and also controversial results in many aspects, and unresolved issues. In this regard, the COVID-19 pandemic has raised new questions regarding reproduction, pregnancy and childhood development care. In particular, in Latin America, socioeconomic inequalities in primary health system access make these societies vulnerable in terms of gestational care. Moreover, although antenatal care is more accessible in developed countries, there is still a need to comprehend the impact of different environmental cues on human health and development and improve the possible medical interventions and public policy management. To address the above-mentioned topics, the International Symposium on Reproductive Health 2021 (ISRH2021) was proposed by a group of early-career scientists from Argentina, as a free one-day symposium with different roundtable sessions, including: -Maternal-fetal interface -Maternal effects on pregnancy and offspring health -ARTs effects on embryo and offspring development -Paternal effects on fertility and offspring health The virtual format provided a networking space between Early-Career and experienced researchers from home, anywhere in the world. This not only allowed to join experts from Latin-American and developed countries but also allowed a wider global audience to attend, including those who may not be able to travel for a face-to-face meeting. The economic barrier is a common problem in Latin America and developing countries as the low incomes affect the possibility of attending international meetings. Moreover, as ECRs are the academic members with lower salaries, they are usually the most affected. The spirit of this symposium was to create possibilities for worldwide participation at all career stages. During the ISRH2021, each session consisted of two Senior talks of invited international researchers and two short talks of early-career researchers (ECRs), which were selected based on their abstract quality. Also, a poster session was held. To generate different opportunities for interaction between Senior and ECRs, several short talks were also held, followed by a debate. Among the topics discussed were “Women in Science and Gender Discrepancy”, “From basic research to public policies”, “ECRs Resources” and “Career Paths”. Listed below we present the abstract of the works presented at the ISRH 2021 meeting.

Monogenic variants in dystonia: an exome-wide sequencing study

Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia. For this exome-wide sequencing study, study participants were identified at 33 movement-disorder and neuropaediatric specialty centres in Austria, Czech Republic, France, Germany, Poland, Slovakia, and Switzerland. Each individual with dystonia was diagnosed in accordance with the dystonia consensus definition. Index cases were eligible for this study if they had no previous genetic diagnosis and no indication of an acquired cause of their illness. The second criterion was not applied to a subset of participants with a working clinical diagnosis of dystonic cerebral palsy. Genomic DNA was extracted from blood of participants and whole-exome sequenced. To find causative variants in known disorder-associated genes, all variants were filtered, and unreported variants were classified according to American College of Medical Genetics and Genomics guidelines. All considered variants were reviewed in expert round-table sessions to validate their clinical significance. Variants that survived filtering and interpretation procedures were defined as diagnostic variants. In the cases that went undiagnosed, candidate dystonia-causing genes were prioritised in a stepwise workflow. We sequenced the exomes of 764 individuals with dystonia and 346 healthy parents who were recruited between June 1, 2015, and July 31, 2019. We identified causative or probable causative variants in 135 (19%) of 728 families, involving 78 distinct monogenic disorders. We observed a larger proportion of individuals with diagnostic variants in those with dystonia (either isolated or combined) with coexisting non-movement disorder-related neurological symptoms (100 [45%] of 222; excepting cases with evidence of perinatal brain injury) than in those with combined (19 [19%] of 98) or isolated (16 [4%] of 388) dystonia. Across all categories of dystonia, 104 (65%) of the 160 detected variants affected genes which are associated with neurodevelopmental disorders. We found diagnostic variants in 11 genes not previously linked to dystonia, and propose a predictive clinical score that could guide the implementation of exome sequencing in routine diagnostics. In cases without perinatal sentinel events, genomic alterations contributed substantively to the diagnosis of dystonic cerebral palsy. In 15 families, we delineated 12 candidate genes. These include IMPDH2, encoding a key purine biosynthetic enzyme, for which robust evidence existed for its involvement in a neurodevelopmental disorder with dystonia. We identified six variants in IMPDH2, collected from four independent cohorts, that were predicted to be deleterious de-novo variants and expected to result in deregulation of purine metabolism. In this study, we have determined the role of monogenic variants across the range of dystonic disorders, providing guidance for the introduction of personalised care strategies and fostering follow-up pathophysiological explorations. Else Kröner-Fresenius-Stiftung, Technische Universität München, Helmholtz Zentrum München, Medizinische Universität Innsbruck, Charles University in Prague, Czech Ministry of Education, the Slovak Grant and Development Agency, the Slovak Research and Grant Agency.

Minnowbrook at 50: A Post-Script

Abstract This essay closes the special issue on the Minnowbrook at 50 conference hosted by the Syracuse University Maxwell School of Citizenship and Public Affairs. We first discuss areas of concord and discord at Minnowbrook at 50, paying particular attention to commonalities among the articles in this issue, as well as to topics addressed at the conference but not written about here. We then discuss our efforts over 2018 and 2019 to expand and extend the Minnowbrook at 50 conversation through interactive roundtable sessions at other conferences, a series of online discussions, and social media.