Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine.

BACKGROUND: The last decade has seen a dramatic increase in the availability of scientific data, where human-related biological databases have grown not only in count but also in volume, posing unprecedented challenges in data storage, processing, analysis, exchange, and curation. Next generation sequencing (NGS) advancements have facilitated and accelerated the process of identifying genetic variations. Adopting NGS with Whole-Genome and RNA sequencing in a diagnostic context has the potential to improve disease-risk detection in support of precision medicine and drug discovery. Several bioinformatics pipelines have been developed to strengthen variant interpretation by efficiently processing and analyzing sequence data, whereas many published results show how genomics data can be proactively incorporated into medical practices and improve utilization of clinical information. To utilize the wealth of genomics and health, there is a crucial need to generate appropriate gene-disease annotation repositories accessed through modern technology. RESULTS: Our focus here is to create a comprehensive database with mobile access to actionable genes and classified diseases, considered the foundation for clinical genomics and precision medicine. We present a publicly available iOS app, PAS-Gen, which invites global users to freely download it on iPhone and iPad devices, quickly adopt its easy to use interface, and search for genes and related diseases. PAS-Gen was developed using Swift, XCODE, and PHP scripting that uses Web and MySQL database servers, which includes over 59,000 protein-coding and non-coding genes, and over 90,000 classified gene-disease associations. PAS-Gen is founded on the clinical and scientific premise that easier healthcare and genomics data sharing will accelerate future medical discoveries. CONCLUSIONS: We present a cutting-edge gene-disease database with a smart phone application, integrating information on classified diseases and related genes. The PAS-Gen app will assist researchers, medical practitioners, and pharmacists by providing a broad and view of genes that may be implicated in the likelihood of developing certain diseases. This tool with accelerate users\u27 abilities to understand the genetic basis of human complex diseases and by assimilating genomic and phenotypic data will support future work to identify gene-specific designer drugs, target precise molecular fingerprints for tumors, suggest appropriate drug therapies, predict individual susceptibility to disease, and diagnose and treat rare illnesses

PGAGP: Predicting pathogenic genes based on adaptive network embedding algorithm

The study of disease-gene associations is an important topic in the field of computational biology. The accumulation of massive amounts of biomedical data provides new possibilities for exploring potential relations between diseases and genes through computational strategy, but how to extract valuable information from the data to predict pathogenic genes accurately and rapidly is currently a challenging and meaningful task. Therefore, we present a novel computational method called PGAGP for inferring potential pathogenic genes based on an adaptive network embedding algorithm. The PGAGP algorithm is to first extract initial features of nodes from a heterogeneous network of diseases and genes efficiently and effectively by Gaussian random projection and then optimize the features of nodes by an adaptive refining process. These low-dimensional features are used to improve the disease-gene heterogenous network, and we apply network propagation to the improved heterogenous network to predict pathogenic genes more effectively. By a series of experiments, we study the effect of PGAGP’s parameters and integrated strategies on predictive performance and confirm that PGAGP is better than the state-of-the-art algorithms. Case studies show that many of the predicted candidate genes for specific diseases have been implied to be related to these diseases by literature verification and enrichment analysis, which further verifies the effectiveness of PGAGP. Overall, this work provides a useful solution for mining disease-gene heterogeneous network to predict pathogenic genes more effectively

Role of precision oncology in type II endometrial and prostate cancers in the African population : global cancer genomics disparities

Precision oncology can be defined as molecular profiling of tumors to identify targetable alterations. Emerging research reports the high mortality rates associated with type II endometrial cancer in black women and with prostate cancer in men of African ancestry. The lack of adequate genetic reference information from the African genome is one of the major obstacles in exploring the benefits of precision oncology in the African context. Whilst external factors such as the geography, environment, health-care access and socio-economic status may contribute greatly towards the disparities observed in type II endometrial and prostate cancers in black populations compared to Caucasians, the contribution of African ancestry to the contribution of genetics to the etiology of these cancers cannot be ignored. Non-coding RNAs (ncRNAs) continue to emerge as important regulators of gene expression and the key molecular pathways involved in tumorigenesis. Particular attention is focused on activated/repressed genes and associated pathways, while the redundant pathways (pathways that have the same outcome or activate the same downstream effectors) are often ignored. However, comprehensive evidence to understand the relationship between type II endometrial cancer, prostate cancer and African ancestry remains poorly understood. The sub-Saharan African (SSA) region has both the highest incidence and mortality of both type II endometrial and prostate cancers. Understanding how the entire transcriptomic landscape of these two reproductive cancers is regulated by ncRNAs in an African cohort may help elucidate the relationship between race and pathological disparities of these two diseases. This review focuses on global disparities in medicine, PCa and ECa. The role of precision oncology in PCa and ECa in the African population will also be discussed.This research was funded by the South African Medical Research Council (SAMRC) Grant No. 23108 and the National Research Foundation (NRF) Grant No. 138139.The South African Medical Research Council and the National Research Foundation.https://www.mdpi.com/journal/ijerphMedical OncologyUrolog

Ensayos sobre ética en la investigación: En el marco de la estancia virtual del XXVIII Verano de la Investigación Científica y Tecnológica del Pacífico. Programa Delfín, 2023.

Ensayos sobre ética en la investigación desarrolladas en el Programa Delfín, 2023. Hecho el depósito legal en la Biblioteca Nacional del Perú N°.2024-01227La ética en la investigación es un pilar fundamental en el desarrollo de la ciencia y la tecnología en nuestra sociedad. Desde la antigüedad, filósofos como Aristóteles han reflexionado sobre los principios morales que guían nuestras acciones y relaciones con el mundo que nos rodea, en el contexto de la investigación, estos compromisos éticos tienen mayor relevancia, ya que influyen en la calidad, confiabilidad e impacto del descubrimiento y progreso científico. Por lo tanto, se convierte en un pilar sobre el que se asienta el conocimiento humano dado que abarca diversos campos de las labores humanas, por lo que su mejora y aumento son esenciales para impulsar el progreso. En esa línea, mejorar la ética en el entorno universitario, surge como una necesidad fundamental en la formación integral de los estudiantes, como futuros investigadores y profesionales, es significativo que comprendan la importancia de actuar éticamente en todas sus actividades científicas. Esta recopilación de ensayos representa el fruto de un proceso educativo en el que distintos estudiantes han elaborado reflexiones y análisis a partir de las conferencias y debates liderados por expertos en el campo de la ética y la integridad académica. A partir de ello, no solo se demuestra el compromiso con la ética en la investigación, sino que también sirven como una herramienta valiosa para fortalecer y difundir las prácticas éticas de investigación universitaria. Esperamos, a través de este esfuerzo colectivo, seguir promoviendo una cultura de ética e integridad en la investigación, contribuyendo así al progreso humano y al bienestar en su conjunto

100 Years of evolving gene-disease complexities and scientific debutants.

It\u27s been over 100 years since the word `gene\u27 is around and progressively evolving in several scientific directions. Time-to-time technological advancements have heavily revolutionized the field of genomics, especially when it\u27s about, e.g. triple code development, gene number proposition, genetic mapping, data banks, gene-disease maps, catalogs of human genes and genetic disorders, CRISPR/Cas9, big data and next generation sequencing, etc. In this manuscript, we present the progress of genomics from pea plant genetics to the human genome project and highlight the molecular, technical and computational developments. Studying genome and epigenome led to the fundamentals of development and progression of human diseases, which includes chromosomal, monogenic, multifactorial and mitochondrial diseases. World Health Organization has classified, standardized and maintained all human diseases, when many academic and commercial online systems are sharing information about genes and linking to associated diseases. To efficiently fathom the wealth of this biological data, there is a crucial need to generate appropriate gene annotation repositories and resources. Our focus has been how many gene-disease databases are available worldwide and which sources are authentic, timely updated and recommended for research and clinical purposes. In this manuscript, we have discussed and compared 43 such databases and bioinformatics applications, which enable users to connect, explore and, if possible, download gene-disease data

Proceedings of the international symposium on development and transfer of technology for rainfed agriculture and the SAT farmer

The work of an international agricultural research institute becomes meaningful only when the results can be effectively conveyed to their ultimate user — the farmer — through the scientists and extension agencies of the many nations served by that institute. It seemed appropriate to us that a symposium inaugurating the new facilities of ICRISAT Center should focus on the development and transfer of technology for rainfed agriculture — a vital but hitherto largely neglected area of agricultural production that ICRISAT has a mandate to improve

Competence in everyday interaction: A conversation analytic approach to repetition, confusion and getting things done when living with dementia

The World Health Organization (WHO, 2012) has identified dementia as a global health priority urging major improvements to awareness and understanding the needs of people with dementia and their caregivers. The growing prevalence of dementia (Alzheimer’s Disease International, 2015) makes provision of care a pressing concern. A goal for people affected by dementia is to maintain independence by living well for longer, maintaining social interaction and contributing to the community (Department of Health, 2009). Since the majority of people diagnosed with dementia are living in their own homes (WHO, 2012), there is a need for research to improve understanding of good care and communication for community-dwelling people with informal caregivers. The findings of this study contribute to existing knowledge of how communication can support independence and well-being when living with dementia. Adopting a competence-based model (Coupland, Coupland and Giles, 1991) of life with dementia, this unique investigation has revealed positive interactional practices to sustain social interaction and involvement in family and community life. Despite episodes of memory lapse, confusion and delusion, the person with dementia demonstrates authority, expertise and wisdom. This study investigates the interactional practices of a woman diagnosed with dementia (7 years prior to participation in this project) in conversation with a variety of interlocutors including family caregivers, teenage grandchildren and community service providers. Drawing on a corpus of 15 hours of conversation, recorded in a range of naturally occurring settings, the interaction is explored primarily through applied conversation analysis and supported by caregiver interviews and extensive ethnographic observations. The findings of this study demonstrated that a significant amount of repetition generated in interaction with a person with dementia is entirely typical in character. For example, repetition is pervasive in typical talk (interaction not involving persons with known cognitive impairment), where it is used in greetings, repair and humour as well as marking the boundaries of discourse, claiming authority and building social solidarity (Schegloff, 1996, 1997, 2011; Heritage and Raymond, 2005; Tovares, 2005; vi Curl, Local and Walker, 2006; Tannen, 2007; Bolden, 2009). Furthermore, it is found that repetitious questions produced by the person with dementia can be self-scaffolding devices, helping to orient the person in the here-and-now. The overwhelming character of the conversations in these data is that the person with dementia is competent and assertive. The study reveals how the social environment empowers the person with dementia to demonstrate her competence and expertise and that the practices of the conversational partners enable and support this. Where previous studies have focused on how conversational partners can collaborate in co- constructing competence, this study additionally demonstrates evidence that the person with dementia has the ability to negotiate epistemic authority and often re-orient herself following episodes of disorder. Although the person with dementia at the centre of this case study is a ‘very special lady’ (in the words of her daughter-in-law), she represents countless people with dementia who wish to be taken seriously and to feel empowered to take an active part in their community (Department of Health, 2009; Sabat and Lee, 2011). This thesis makes an original contribution to understanding competence in everyday interaction when living with dementia

Women’s access to silent cinema in Portugal and Spain : the case studies of Virgínia de Castro e Almeida and Helena Cortesina

This dissertation (re-)constructs the ‘bio/careerographies’ of the writer Virgínia de Castro e Almeida (Lisbon, 1874 – 1945) and the performer Helena Cortesina (Valencia, 1903 – Buenos Aires, 1984). Coming from different backgrounds, both women owned film production companies in which they played various decision-taking roles during the early years of 1920s in Portugal and Spain, respectively. Although they developed long international and intermedia professional careers, their life-stories have largely remained untold. In this dissertation, I reflect on the reasons behind their absence in film histories looking at the historiographical, conceptual and methodological challenges that the research and narration of their ‘careerographies’ entails. In this sense, I problematize the conventional film history-writing, proposing a ‘new cinema history from below’ approach. Also, I identify traditional categories of ‘authorship’, ‘woman’ and ‘pioneer’ as frames that limit the inscription into silent cinema histories only to those cases that conform to a certain nationalistic and individualistic narrative of success or heroicism. Furthermore, I describe core characteristics of film historiography, such as its dependence on film as source, its territorial delimitation, and its focus on cinema’s specificity as medium, as methodological problems that prevented Almeida’s and Cortesina’s stories to be appreciated. Finally, using a comparative perspective, I analyse the characteristics that allowed Almeida and Cortesina to overcome difficulties and be among the few women that achieved film-making in the Iberian countries during the silent cinema period. In that sense, I identify the two models of access to film-making they represent. Moreover, I argue that it was the affective relationship of ‘relational autonomy’ they established with their matrilineal caring network which provided the security they needed for their leap into cinema. However, their familial film production system proved to be ineffective in a growing male-centered capitalist and professionalized film industries.Esta tese (re-)constrói as ‘bio/carreirografias’ da escritora Virgínia de Castro e Almeida (Lisboa, 1874 – 1945) e da atriz Helena Cortesina (Valencia, 1903 – Buenos Aires, 1984). Vindo de diferentes origens, ambas criaram companhias produtoras de filmes, nas quais tiveram diferentes responsabilidades, durante os primeiros anos da década de 1920 em Portugal e Espanha, respetivamente. Embora ambas desenvolveram longas carreiras internacionais e intermediais, elas não têm tido os seus percursos de vida narrados. Com esta tese, tenho como objetivo refletir sobre as razões por trás desta ausência nas histórias do cinema identificando os desafios historiográficos, conceptuais e metodológicos que a pesquisa e narração das suas carreirografias envolve. Neste sentido, problematizo a escrita convencional da história do cinema, propondo um avanço para uma ‘nova história do cinema desde abaixo’. Também identifico as categorias tradicionais de ‘autoria’, ‘mulher’ e ‘pioneirismo’ como enquadramentos que limitam a inscrição nas histórias do cinema mudo só àqueles casos conformados a uma certa narrativa nacionalista e individualista de sucesso ou heroicidade. Além disso, descrevo as características principais da historiografia do cinema, tais como a dependência nos filmes como fonte, a sua delimitação territorial e seu foco na especificidade do cinema meio como problemas metodológicos que tem vindo a colocar obstáculos na valorização de histórias como as de Almeida e Cortesina. Finalmente, usando uma perspetiva comparatista, analiso as características que permitiram a Almeida e Cortesina superar dificuldades e estar entre as poucas mulheres que conseguiram fazer filmes nos países ibéricos durante o período do cinema mudo. Neste sentido, identifico os dois modelos de acesso à produção cinematográfica que elas representam. Argumento, também, que foi a relação afetiva de ‘autonomia relacional’ com uma rede matrilinear de cuidados o que lhes permitiu o salto para o cinema. No entanto, o seu sistema familiar de produção de filmes provou ser ineficaz nas crescentes indústrias fílmicas que, cada vez mais, eram dominadas por um sistema profissional, masculino e capitalista