Global publication trends in ophthalmic genetics and gene therapy research: A Scientometric analysis / Tendências globais de publicação de pesquisas sobre genética oftálmica e terapia genética: uma análise cientométrica

ABSTRACT Objective: A scientometric analysis produced in ophthalmic genetics and gene therapy research is lacking. The purpose of this study is to present a holistic analysis of ophthalmic genetics literature. Methods: The data used in this study were obtained from the Web of Science (WoS) Core Collection. All published documents between 1975-2019 were included. The data exported from WoS enabled the extensive details of ophthalmic genetics related literature including countries, institutions, authors, citations and keywords. Scientometric network maps of keywords and also country and institution co-authorships were created with free software. Global contributions of the countries to the ophthalmic genetics literature were shown by a graphic. Results: The search query revealed a total of 2322 documents. Most of the documents were original articles (75.75%). USA was the leading country by producing 45.39% of all documents in ophthalmic genetics research followed by UK, Germany, China and France. Pennsylvania University was the most contributing institution in the literature (5.25%) followed by University College London and Moorfields Eye Hospital. The average citations per item was 29.4. The most used keywords over a 40-year period were 'family', 'cell', 'photoreceptor' and 'expression'. Conclusions: USA and UK dominated the ophthalmic genetics research. A substantial increase in the number of published documents in this field were observed after 2010.

RESUMO Objetivo: A literatura carece de análise cienciométrica produzida em genética oftálmica e de pesquisa em terapia genética. O objetivo deste estudo é apresentar uma análise holística da literatura genética oftálmica. Métodos: Os dados utilizados neste estudo foram obtidos na base de dados Web of Science (WoS) Core Collection. Todos os documentos publicados entre 1975 e 2019 foram incluídos na análise. Os dados exportados da WoS viabilizaram acesso a amplos detalhes da literatura relacionada à genética oftálmica, incluindo países, instituições, autores, citações e palavras-chave. Mapas de rede cienciométrica foram criados por meio de software gratuito, com base em palavras-chave e em coautorias de países e instituições. As contribuições globais dos países para a literatura sobre genética oftálmica foram apresentadas em gráfico. Resultados: a busca por pesquisas revelou um total de 2.322 documentos cuja maioria eram artigos originais (75,75%). Os EUA foram o país que mais produziu artigos sobre o tema, com 45,39% de todos os documentos em pesquisa genética oftálmica; ele foi seguido pelo Reino Unido, Alemanha, China e França. A Universidade da Pensilvânia foi a instituição que mais contribuiu para a literatura (5,25%), e foi seguida pela University College London e pelo Moorfields Eye Hospital. A média de citações por item foi de 29,4. As palavras-chave mais usadas em um período de 40 anos foram 'família', 'célula', 'fotorreceptor' e 'expressão'. Conclusões: Os EUA e o Reino Unido dominaram a pesquisa em genética oftálmica. Após 2010, observou-se um aumento substancial no número de documentos publicados nessa área.

Lineamientos para el abordaje de casos positivos para secuenciación de SARS-CoV-2 para pacientes que asisten a hospitales privados, públicos y al Instituto Guatemalteco de Seguridad Social ­IGSS- / Guidelines for addressing positive cases for SARS-CoV-2 sequencing for patients attending private and public hospitals and the Guatemalan Social Security Institute -IGSS-

En los antecedentes se presentan estadísticas del COVID-19 a la fecha en la que se elaboró el documento (enero 2021) y aborda las tres mutaciones del virus conocidas hasta la fecha del documento. "La caracterización genética de patógenos virales es la base para el desarrollo de protocolos de diagnóstico, vacunas y medicamentos antivirales. Esta estrategia también es una herramienta útil en salud pública para el seguimiento a brotes y control de enfermedades mediante estudios de epidemiología molecular." "…la secuenciación genómica del SARS-CoV-2 y la liberación oportuna de la información no solo permitió la caracterización del agente etiológico involucrado en el brote inicial, sino también el desarrollo oportuno de protocolos de diagnóstico y seguimiento a la evolución de la pandemia de COVID-19. Así, la secuenciación genómica se ha convertido en una herramienta esencial para generar datos virológicos de SARS-CoV-2, para impulsar la respuesta de laboratorio, y entender mejor los patrones de dispersión y evolución de SARS-CoV-2" De manera que el objetivo del documento es: "Generar información genética mediante la vigilancia genómica de casos confirmados de COVID-19 de pacientes que asisten a los servicios de salud públicos y privados del país, así como del Instituto Guatemalteco de Seguridad Social ­IGSS-."

Next-generation Sequencing-based genomic profiling: Fostering innovation in cancer care?

OBJECTIVES: With the development of next-generation sequencing (NGS) technologies, DNA sequencing has been increasingly utilized in clinical practice. Our goal was to investigate the impact of genomic evaluation on treatment decisions for heavily pretreated patients with metastatic cancer. METHODS: We analyzed metastatic cancer patients from a single institution whose cancers had progressed after all available standard-of-care therapies and whose tumors underwent next-generation sequencing analysis. We determined the percentage of patients who received any therapy directed by the test, and its efficacy. RESULTS: From July 2013 to December 2015, 185 consecutive patients were tested using a commercially available next-generation sequencing-based test, and 157 patients were eligible. Sixty-six patients (42.0%) were female, and 91 (58.0%) were male. The mean age at diagnosis was 52.2 years, and the mean number of pre-test lines of systemic treatment was 2.7. One hundred and seventy-seven patients (95.6%) had at least one identified gene alteration. Twenty-four patients (15.2%) underwent systemic treatment directed by the test result. Of these, one patient had a complete response, four (16.7%) had partial responses, two (8.3%) had stable disease, and 17 (70.8%) had disease progression as the best result. The median progression-free survival time with matched therapy was 1.6 months, and the median overall survival was 10 months. CONCLUSION: We identified a high prevalence of gene alterations using an next-generation sequencing test. Although some benefit was associated with the matched therapy, most of the patients had disease progression as the best response, indicating the limited biological potential and unclear clinical relevance of this practice.

Assessment of the scientific-technological production in molecular biology in Brazil (1996-2007): the contribution of genomics programs

Several genome sequencing programs were launched in Brazil by the end of the nineties and the early 2000s.The most important initiatives were supported by the ONSA program (http://watson.fapesp.br/onsa/Genoma3.htm) and aimed at gaining domain in genomic technology and bringing molecular biology to the state of art. Two mainsets of data were collected in the 1996-2007 period to evaluate the results of these genome programs: the scientific production (Scopus and Web of Science databases) and the register of patents (US Patent and Trademark Office), both related to the progress of molecular biology along this period. In regard to the former, Brazil took a great leap in comparison to 17 other developed and developing countries, being only surpassed by China. As to the register of patents in the area of molecular biology, Brazil's performance lags far behind most of the countries focused in the presentstudy, confirming the Brazilian long-standing tendency of poor achievements in technological innovations when compared with scientific production. Possible solutions to surpass this inequality are discussed.

Vários programas de sequenciamento de genoma foram lançados no Brasil no final da década de noventa e início dadécada de 2000. As mais importantes iniciativas foram sustentadas pelo programa ONSA (http://watson.fapesp.br/onsa/Genoma3.htm) e visavam o domínio da tecnologia genômica e o progresso da biologia molecular para o estado da arte desta disciplina. Dois principais conjuntos de dados foram coletados no período de 1996-2007 para avaliar os resultados destes programas de genômica: a produção científica (bases de dados SCOPUS e o registro de patentes (US Patent and Trademark Office), ambos relacionados com o progresso de biologiamolecular ao longo deste período. Em relação ao primeiro o Brasil de um grande passo em comparação a 17 outros países desenvolvidos e em desenvolvimento, sendo apenas superado pela China. Com relação ao registro de patentes na área de biologia molecular, o desempenho do Brasil fica bem atrás entre os países focados no presente estudo, confirmando a perdurável tendência de pobres conquistas em inovação tecnológica, quando comparado com produção científica. São discutidas as possíveis soluções para superar este desequilíbrio.

Contribución de la genética moderna al desarrollo de la reprogramación celular / Contribution of current genetics to development of cellular reprogramming

El avance en el conocimiento de la genética y en especial de la biología molecular, dio paso a una nueva era: la genómica, y a nuevos conceptos como transcriptoma, proteoma, metaboloma, epigenoma, que permiten el estudio de la estructura, organización y función de todos los genes y sus productos, así como de los mecanismos implicados en la regulación de su expresión y el modo en que unos genes interactúan con otros. El uso de nuevas tecnologías en la investigación con células madre favoreció el desarrollo de las células madre pluripotentes inducidas, con el empleo de numerosos métodos para su obtención. Esto demostró que la adición de un reducido número de genes posibilita la reprogramación de células somáticas y la formación de células madre pluripotentes con características embrionarias, sin necesidad de utilizar embriones humanos, lo que tiene sus connotaciones éticas y posibles aplicaciones terapéuticas en medicina regenerativa

The advance of the genetics and specially of the molecular biology, gave rise to a new era: the genomic and to new concepts like transcriptome, proteome, metabolome, epigenome allowing us to study the structure, organization and function of all the genes and its products, as well as the mechanisms involved in regulation of its expression and the way in which some genes interacting each other. The use of new technologies in research of stem cells favored the development of induced pluripotent stem cells using the many methods for its detection. It was demonstrated that the addition of a reduced number of genes allows the reprogramming of somatic cells and the formation of pluripotent stem cells with embryonic features, without the use of human embryos, which has its ethical connotations and potential therapeutic applications in regenerative medicine

Necesidad de un centro nacional de bioinformática y biología computacional para Colombia / The need for a Colombian bioinformatics and computational biology centre

Los principales y más revolucionarios avances de la biología en este siglo se han derivado de la información proveniente de genomas completos de diferentes organismos. Los descubrimientos que se derivan de la genómica están generando un nuevo paradigma en la biología, sustituyendo la era de la biología centrada en los genes por aquella centrada en los genomas. Este nuevo concepto es base para desarrollos de gran potencial e impacto social en diferentes áreas como la medicina, la agricultura y la industria. El éxito en el desarrollo de métodos de última generación para la secuenciación de genomas, la proteómica y todas las “omicas”, ha contribuido al surgimiento de nuevas posibilidades para el análisis de la enorme cantidad de datos que se están generando mediante el uso de herramientas computacionales, dando origen a una nueva rama de estudio conocida como bioinformática o biología computacional.Este trabajo hace una revisión general del desarrollo de la bioinformática y la biología computacional en Colombia. Inicialmente, a modo de comparación, describimos el desarrollo de esta ciencia en otros países latinoamericanos que son reconocidos en el área. Finalmente, se discuten los principales aspectos que van a jugar un papel importante en el futuro de esta ciencia en nuestro país, y que además justifican la necesidad de crear un centro nacional de bioinformática y biología computacional.

The main, most revolutionary advances in biology during this century have arisen from information being provided from revealing different organisms’ complete genomes. The discoveries deriving from genomics are leading to a new paradigm in biology, the era of gene-centred biology being substituted for that centred on genomes. Such new concepts represent the basis for developments with great potential and social impact in different areas such as medicine, agriculture and industry. The successful development of latestgeneration methods for genome sequencing, proteomics and all the other “-omics” has contributed towards an enormous amount of genetic data being produced that needs to be analyzed using computational tools. This has led to the development of a new area called bioinformatics or computational biology.The present work gives a general overview of the development of bioinformatics and computational biology in Colombia. The justification for the establishment of a National ioinformatics and computational biology centre is discussed, as well as some aspects that will be crucial for developing this science in Colombia.

Biotecnologia na agricultura / Biotechnology in agriculture

A expectativa de o crescimento populacional atingir 9 bilhões de habitantes em 2050 em adição às questões da sustentabilidade e do aquecimento global nos desafiam a aumentar a oferta de alimentos. Uma metodologia alternativa que contribua para a redução do impacto desse cenário envolve a biotecnologia, que, nas últimas décadas, trouxe marcantes oportunidades tecnológicas na agricultura, resultando em relevante desenvolvimento na obtenção de novas variedades de plantas, na melhoria da qualidade de diversos alimentos e atualmente também na bioenergia. As técnicas biotecnológicas envolvendo os marcadores moleculares, a genômica e a transformação genética estão transformando a agricultura e são discutidas neste artigo.

The expected population growth to reach 9 billion by 2050 in addition to issues of sustainability and global warming challenges us to increase the supply of food. An alternative approach to help reducing the impact of this scenario involves biotechnology which in recent decades has brought remarkable technological opportunities in the agriculture that resulted in relevant development in obtaining new plant varieties, improved quality of different foods, and now also in bioenergy. The biotechnology techniques involving molecular markers, genomics and genetic transformation are transforming agriculture and will be discussed in this article.

El salto de la doble hélice. Consecuencias del Proyecto Genoma Humano en la medicina del siglo XXI (Segunda parte) / The leap of the double helix. Consequences of the Human Genome Project in medicine of the 21st century (Part II

El Proyecto Genoma Humano, iniciado en octubre de 1990, ha permitido desentrañar, 12 años después, la secuencia nucleotídica del ADN humano. Este hecho ha producido un avance singular en la medicina moderna, posibilitando a través de la detección de las variaciones nucleotídicas en la secuencia del ADN, el desarrollo de estudios genéticos, la determinación de pronósticos y guías terapéuticas con fármacos, y el desarrollo de nuevas drogas gracias al avance de la farmacogenómica. Todo esto permitiría, en un futuro cercano, la predicción de respuestas a maniobras terapéuticas en los procedimientos de anestesia, cuidados críticos y tratamiento del dolor. Este desarrollo introduce también problemas éticos, específicamente en los campos de la terapia génica y la clonación.

Genomics of Mycobacterium tuberculosis: old threats & new trends.

Tuberculosis (TB) has been declared as a global health emergency by the World Health Organization (WHO). This has been mainly due to the emergence of multiple drug resistant strains and the synergy between tubercle bacilli and the human immunodeficiency virus (HIV). Genomic analysis of strains for outbreak investigations is in vogue for about a decade now. However, information available from whole genome sequencing efforts and comparative genomics of laboratory and field strains is likely to revolutionize efforts towards understanding molecular pathogenesis and dissemination dynamics of this dreaded disease. Genomic information is also going to fuel discovery projects where new targets will be identified and explored towards a new drug for TB. Besides this, efforts of information technologists, chemists, population biologists, freelance workers, media persons, non-governmental organizations and administrators to needed to handle the problem of tuberculosis to prevent it from becoming a pandemic.

Fight against cancer in countries with limited resources: the post-genomic era scenario.

The enormous advances in science and technology in the 20th century have facilitated the process of globalization with the aim of a better quality of life for all. Paradoxically, the gap between the rich and the poor, for both nations and people, is constantly widening. The actual trends in human genome research are leading towards promising genomic medicine, but it will be expensive and inaccessible for many. Also, it may not offer a quick fix "cure" for various types of cancers. The biggest challenge before the clinicians now is the management of the rising incidence of cancer in developing countries, with little prospect of more resources becoming available to fight the disease. The death rate from cancer in the developing countries is set to rise at least 3-fold by the year 2025 largely due to the increased life expectancy, containment of infectious diseases and changing lifestyles. It is estimated that about 50% of cancers are curable if they are detected early and treated appropriately. Screening has a major role in early diagnosis. However, in the developing world around 80% of cancer patients have late stage incurable disease when they are diagnosed. Moreover, in a developing country like India, about 70% of the population obtain medical help from private practitioners. Nearly half of those who seek medical help utilize alternative and traditional systems of medicine. Appalling poverty, poor hygiene and complex social dynamics, pose major hurdles in this regard. Many in the private sector who call themselves doctors have no medical degree. By 2030 tobacco is expected to kill 10 million people worldwide, out of which 70% of the deaths will occur in the developing countries. Control of usage of tobacco has still not achieved a conducive atmosphere. It is now realized that the research information and knowledge generated in the west may neither be relevant nor applicable to developing countries, due to differences in social and cultural attitudes, lifestyles and lack of sophisticated technologies. Though the sequencing of the human genome will have a major impact on the prevention, diagnosis, treatment, monitoring, and outcome of cancer, the cancer scenario in the developing countries for the next 20 years is likely to be more or less the same, rather than presenting a radically different picture. Cancer awareness and screening programs for early detection thus should be continue to be given utmost attention.

Update of microbial genome programs for bacteria and archaea

Since the Haemophilus influenzae genome sequence was completed in 1995, 172 other prokaryotic genomes have been completely sequenced, while 508 projects are underway. Besides pathogens, organisms important in several other fields, such as biotechnology and bioremediation, have also been sequenced. Institutions choose the organisms they wish to sequence according to the importance that these species represent to them, the availability of the microbes, and based on the similarity of a species of interest with others that have been sequenced previously. Improvements in sequencing techniques and in associated methodologies have been achieved; however, scientists need to continue working on the development of this field. In Brazil, a multicentered, centrally coordinated and research-focused network was adopted and successfully used for the sequencing of several important organisms. We analyzed the current status of microbial genomes, the trends for criteria used to choose new sequencing projects, the future of microbial sequencing, and the Brazilian genome network.

Projeto Genoma Humano e suas implicaçöes para a saúde humana: visäo geral e contribuiçäo brasileira para o projeto / Human Genome Project and its implications to human health: general view and Brazilian contribution to the project

A informaçäo derivada do Projeto Genoma Humano, um esforço internacional para elucidar e caracterizar a seqüência completa de 3X109 pares de bases do genoma humano, vai revolucionar a prática da medicina no séc. XXI por prover instrumentos para determinar o componente genético de virtualmente todas as doenças. As conseqüências para a prática da medicina deveräo ser profundas, tais como a geraçäo de medidas que possam prever o risco, permitir o diagnóstico precoce e promover estratégias de tratamento mais efetivas. Discutem-se as aplicaçöes potenciais do conhecimento adquirido com o HGP, bem como a contribuiçäo brasileira a esse projeto