Análisis crítico del programa de la asignatura Genética Médica de la disciplina Investigaciones Diagnósticas / A Critical Analysis of the Syllabus for the Subject Medical Genetics of the Discipline Diagnostic Research

Introducción: El programa de estudio es una formulación hipotética de los aprendizajes que se pretenden lograr en el educando. Constituye una herramienta fundamental de trabajo docente. Objetivo: Exponer un análisis crítico del programa de estudio de la asignatura Genética Médica en la carrera de medicina, a partir de lo normado en el reglamento vigente para el trabajo docente-metodológico. Métodos: Se realizó una revisión bibliográfica para desarrollar un análisis crítico del programa de la asignatura genética médica, en la que se consideraron artículos publicados entre 2012 y 2022. La búsqueda fue realizada en Google académico, Dialnet, SciELO y Redalyc en septiembre de 2022. Las palabras clave utilizadas fueron: programas, genética, asignatura, disciplina y proceso docente-educativo. Dentro de este marco se incluyeron todos los artículos cubanos publicados; no hubo restricción en cuanto al idioma. Se consultaron 50 artículos, de estos 11 fueron seleccionados. Se excluyeron aquellos no relacionados con la educación médica superior. Resultados: Se orientó metodológicamente la inclusión de aspectos encaminados a la promoción de salud; fomentar las habilidades comunicativas; reformular los objetivos, incluyendo en su estructura los elementos esenciales; realizar un cambio en el orden de impartir el contenido, con modificaciones, además, en el nivel de profundidad y con aporte de un enfoque preventive; y declarar adecuadamente los valores, la rectificación de la cantidad de horas del fondo de tiempo y la actualización de la bibliografía. Conclusiones: Las insuficiencias encontradas en el análisis efectuado identificaron las áreas vulnerables hacia donde deben dirigirse las principales acciones encaminadas a aumentar la calidad del proceso docente educativo y reflejaron la necesidad de su reevaluación(AU)

Introduction: The syllabus is a hypothetical formulation of the learning aspects intended to be achieved in the student. It is a fundamental tool for teaching. Objective: To present a critical analysis of the syllabus for subject Medical Genetics in the medical major, based on the current regulations for the teaching-methodological work. Methods: A literature review was carried out to develop a critical analysis of the syllabus of the subject Medical Genetics, considering articles published between 2012 and 2022. The search was performed in Google Scholar, Dialnet, SciELO and Redalyc in September 2022. The keywords used were programas [syllabuses], genética [genetics], asignatura [subject], disciplina [discipline] and proceso docente-educativo [teaching-educational process]. This framework included all published Cuban articles; there were not any language-related restrictions. Fifty articles were consulted, 11 of which were selected. Those not related to higher medical education were excluded. Results: The methodological orientation was to include aspects aimed at health promotion, to encourage communicative skills, to reformulate the objectives (including the essential elements in their structure), to make a change in the order of teaching (with modifications also in the level of depth and contributing with a preventive approach), as well as to state the values adequately, to rectify the number of hours within the available time fund, to update the bibliography. Conclusions: The insufficiencies found through the performed analysis permitted to identify the vulnerable areas towards the main actions should be directed if aimed at increasing the quality of the educational teaching process, apart from reflecting their need to be reassessed(AU)

Estrategia para la enseñanza de la Bioestadística en investigaciones científicas de la maestría en genética médica / Estrategia para la enseñanza de la Bioestadística en investigaciones científicas de la maestría en genética médica

Introducción: La bioestadística en las investigaciones científicas constituye el curso ocho de la maestría de genética médica. La experiencia empírica alcanzada demuestra que los cursistas no logran las competencias y habilidades necesarias para adquirir soberanía estadística y enfrentar los desafíos investigativos de la especialidad. Objetivo: Exponer la efectividad de una estrategia didáctica basada en métodos activos para la enseñanza de la Bioestadística en las investigaciones científicas en la maestría de genética médica en la edición del período lectivo 2022-2023. Métodos: Se realizó un estudio cuasiexperimental de estrategia longitudinal de mediciones antes-después. Se aplicó un cuestionario validado por un comité de expertos a 19 maestrandos que consintieron en participar en la investigación. La estrategia docente se basó en la enseñanza por proyectos, y aplicó un paquete estadístico, cuyo programa analítico se contextualizó a los intereses y móviles profesionales. Resultados: El 52,6 por ciento de los maestrandos emplearon los métodos estadísticos; el 57,9 por ciento, las estadísticas descriptivas; y una minoría (21,1 por ciento), la estadística inferencial. El 26,3 por ciento de los casos utilizaron un paquete estadístico y un porcentaje aún más bajo (15,8 por ciento) poseyó autonomía en los análisis estadísticos. Al inicio del curso predominó en la totalidad de los ítems el nivel bajo de conocimientos; y, después de la intervención, el nivel alto y moderado. Conclusiones: Se demostró la efectividad de la estrategia didáctica empleada para la enseñanza de la Bioestadística en las investigaciones científicas en la maestría de genética médica en la edición desarrollada durante el curso 2022-2023(AU)

Introduction: Biostatistics in scientific research is course number eight within the master's degree program in medical genetics. The current empirical experience shows that the students do not achieve the necessary competences and skills to acquire statistical sovereignty or face the research challenges of the specialty. Objective: To expose the effectiveness of a didactic strategy based on active methods for teaching biostatistics in scientific research within the master's degree program in medical genetics during the 2022-2023 academic year. Methods: A quasiexperimental study with a longitudinal strategy of before-after measurements was carried out. A questionnaire validated by an expert committee was applied to nineteen master's degree students who consented to participate in the research. The teaching strategy used a project-based dynamics and applied a statistical package, whose analytical program was contextualized according to professional interests and motivations. Results: 52.6 percent of the students used statistical methods, 57.9 percent used descriptive statistics, and a minority (21.1 percent) used inferential statistics. A statistical package was used in 26.3 percent of the cases and an even lower percentage (15.8 percent ) had some statistical analysis autonomy. At the beginning of the course, the low level of knowledge predominated for all items; after the intervention, the high and moderate levels predominated. Conclusions: This research showed the effectiveness of the didactic strategy used for the teaching of biostatistics in scientific research as part of the master's degree program in medical genetics for the edition developed during the 2022-2023 academic year (AU)

Entorno virtual de aprendizaje de Genética Médica en tiempos de la COVID-19 en la Facultad de medicina Finlay-Albarrán / Environment of Medical Genetics Learning during the Time of COVID-19 at the Finlay-Albarrán Faculty of Medicine

Introducción: el entorno virtual de aprendizaje como modalidad de educación a distancia, se ha convertido en una necesidad para las universidades pues aprovecha los avances de las tecnologías de la informática y las comunicaciones para garantizar un aprendizaje dinámico, en el cual el estudiante es un ente activo. Ante la contingencia epidemiológica de la COVID-19, cobra gran importancia para garantizar la continuidad del proceso docente. Objetivo: relatar la experiencia del entorno virtual de aprendizaje en la asignatura Genética médica, para estudiantes del cuarto semestre de la carrera de Medicina de la Facultad Finlay-Albarrán, durante el período de enfrentamiento a la pandemia de la COVID-19. Material y Métodos: se aplicó un diseño de paradigma cualitativo, del nivel investigativo exploratorio, en el que se realiza un estudio de caso. Resultados: en la primera etapa se utilizó la modalidad del aprendizaje mixto, previa creación del entorno virtual de aprendizaje en la plataforma Moodle. En ella se aplicaron la mayoría de sus herramientas informáticas como el foro de discusión, el chat, el examen tipo test, entre otros. En la segunda etapa, se aplicó la modalidad e-learning y se creó un grupo WhatsApp para darle continuidad al proceso. En la tercera etapa se re-estableció la modalidad presencial, haciendo énfasis en la integración de los conocimientos desde la perspectiva del tema 8. Conclusión: la educación a distancia virtual, garantizó la continuidad del proceso docente de la asignatura Genética médica durante el periodo de emergencia epidemiológica por la COVID-19(AU)

Introduction: the virtual learning environment as a distance education modality has become a necessity for universities, which takes advantage of advances in information technology and communications to guarantee dynamic learning, in which the student is an active entity. Given the epidemiological contingency of the COVID-19 pandemic, it is of great importance to guarantee the continuity of the teaching process. Objective: to report the experience of the virtual learning environment in the subject of Medical Genetics for the fourth semester students of the Medicine career at the Finlay-Albarrán Faculty that was developed during the period of confrontation with the COVID-19 pandemic. Material and Methods: a qualitative paradigm design of the exploratory research level was applied, in which a case study is carried out. Results: in the first stage, the blended learning modality was used, after creating the virtual learning environment on the Moodle platform; most of its computer tools were applied, such as the discussion forum, the chat, multiple choice exam, among others. In the second stage, the e-learning modality was applied and a WhatsApp group was created to give continuity to the process. In the third stage, the face-to-face modality was re-established, emphasizing the integration of knowledge from the perspective of topic 8. Conclusion: virtual distance education guaranteed the continuity of the teaching process of the subject of medical genetics during the period epidemiological emergency of COVID-19(AU)

Procedimiento de autoevaluación de la calidad del pregrado de Genética Médica / A quality self-evaluation procedure for undergraduate of Medical Genetics

RESUMEN Fundamento: Las universidades inciden directamente en el desarrollo socioeconómico de las naciones. Para cumplir este reto, necesitan gestionar su calidad, y así apoyar a la formación de profesionales competentes, que se adapten a los dinámicos entornos laborales. Objetivo: Implementar un procedimiento de autoevaluación de la calidad del proceso docente-educativo, en el pregrado de Genética Médica, para contribuir a la mejora de su desempeño. Metodología: Se realizó una investigación descriptiva, en la asignatura Genética Médica, Facultad de Ciencias Médicas "Salvador Allende", curso 2018-2019. Se utilizaron métodos teóricos, el histórico-lógico y el inductivo-deductivo. Se empleó la observación, la revisión de documentos, las encuestas, las entrevistas y la tormenta de ideas. Se propuso un procedimiento estructurado en las etapas del ciclo de Deming. Resultados: Se diagnosticó el desempeño del proceso, obteniéndose un 63 % de cumplimiento. Se ejecutó un análisis causa-efecto. Se confeccionó un programa de mejora de la calidad. Conclusiones: Se diseñó un procedimiento para autoevaluar la calidad del pregrado de Genética Médica; su aplicación posibilitó la elaboración de un programa, con acciones encaminadas a mitigar las causas de los problemas analizados, y así coadyuvar a la mejora del desempeño del proceso.

ABSTRACT Background: Universities directly influence on the socioeconomic development of nations. To reach this goal, they need to manage their quality, thus support the training of competent professionals, who adapt to dynamic work environments. Objective: To implement a quality self-assessment program of the educational teaching process, in the undergraduate of Medical Genetics, to contribute to their performance´s improvement. Methodology: A descriptive investigation was conducted in the Medical Genetics subject, at the Faculty of Medical Sciences "Salvador Allende", 2018-2019 academic course. Theoretical, logical historical and inductive deductive methods were used. Observation, document review, surveys, interviews, and brainstorming were also used. A structured program was suggested in the stages of the Deming cycle. Results: The process´s performance was diagnosed, obtaining 63 % compliance. A cause-effect analysis was done. A quality improvement program was developed. Conclusions: A quality self-assessment program was designed in the undergraduate degree in Medical Genetics; Its application made possible the development of some actions aimed at mitigating the causes of the considered problems, thus contributing to the improvement of the process´s performance.

Genetic Counseling Outcome Scale (GCOS-24): adaptação cultural e validação para brasileiros em processo de aconselhamento genético / Genetic Counseling Outcome Scale (GCOS-24): cultural adaptation and validation to Brazilians in process of Genetic Counseling

Profissionais de saúde, atuantes em serviços que oferecem aconselhamento genético (AG), carecem de instrumentos objetivos para avaliar os desfechos do AG e para "dar voz" aos usuários desses serviços. O desconhecimento desses desfechos pode impactar diretamente na efetividade e nos benefícios do aconselhamento, na qualidade de vida, na promoção da saúde e no empoderamento dos aconselhados. Tais instrumentos são escassos na maioria dos países e inexistentes no Brasil. Nesse contexto, o presente estudo teve como objetivo adaptar culturalmente e validar a Genetic Counseling Outcome Scale/GCOS-24, originalmente elaborada no idioma inglês britânico. Após aprovação pelo Comitê de Ética em Pesquisa das instituições participantes, conduzimos uma investigação metodológica, que incluiu 204 usuários (pacientes, acometidos ou em risco para doenças genéticas, ou um de seus familiares/cuidadores) do Serviço de Genética Médica de um hospital universitário do interior paulista, durante o período de outubro de 2014 a dezembro de 2015. O processo de adaptação e validação da GCOS-24 compreendeu as fases de tradução e retrotradução, comitê de especialistas, validação semântica, estudo piloto e estudo de campo, por meio de análise estatística apropriada. A validação semântica demonstrou que a GCOS-24 é composta por itens considerados relevantes para a condição de saúde dos participantes do estudo, os quais foram facilmente compreendidos pelos mesmos. A versão adaptada apresentou confiabilidade satisfatória (?Cronbach=0,71) e estabilidade moderada (ICC=0,52), mensuradas, respectivamente, pelo Coeficiente Alfa de Cronbach e Coeficiente de Correlação Intraclasse. O processo de adaptação e validação da GCOS-24 para brasileiros foi finalizado. O produto final deste trabalho, a EDAG-24 (Escala de Desfechos do Aconselhamento Genético/EDAG-24), foi considerada válida e fidedigna à sua versão original, com potencial para mensurar os desfechos do aconselhamento genético, realizado em serviços de genética clínica

Health professionals working in services that offer genetic counseling (GC) lack objective instruments to measure the GC outcomes and to give voice to the users of these services. The unawareness of these outcomes can directly impact the effectiveness and benefits of counseling, life quality, health promotion and the empowerment of the patients. Such instruments are scarce in most countries and nonexistent in Brazil. In this context, this paper aimed to culturally adapt and validate the Genetic Counseling Outcome Scale /GCOS-24, originally made in British English. After the approval of the Research Ethics Committee of the participating institutions, we conducted a methodological investigation, which included 204 users (patients, affected or at risk for genetic diseases, or one of their relatives/caregivers) from the Medical Genetics Service of a university hospital in the countryside of the state of Sao Paulo, during the period from October 2014 to December 2015. The process of adaptation and validation of the GCOS-24 comprehended the phases of translation and back-translation, committee of experts, semantic validation, pilot test and field study, through appropriate statistical analysis. The semantic validation revealed that GCOS-24 consists of items that were considered relevant to the health condition of the study participants, which were easily understood by them. The adapted version presented satisfactory reliability (?Cronbach=0,71) and moderate stability (ICC=0,52), measured, respectively, by the Cronbach's Alpha Coefficient and Intraclass Correlation Coefficient. The adaptation and validation process of the GCOS-24 to Brazilians was finalized. The final product of this paper, the EDAG-24 (Escala de Desfechos do Aconselhamento Genético/EDAG-24), was considered valid and reliable to its original version, with potential to measure the genetic counseling outcomes conducted in Clinical Genetics Services

Desafios para a universalização da genética clínica: o caso brasileiro / Challenges for the universalization of clinical genetics: the Brazilian case

Este artigo aborda as dificuldades de inserir a genética médica como parte do Sistema Único de Saúde (SUS) no Brasil. Em 2009, foi instituída no Brasil a Política Nacional de Atenção Integral em Genética Médica, cujo pilar central seria o aconselhamento genético. Porém, são problemas estratégicos para a implementação dessa política a falta de programas de formação em aconselhamento genético, o desconhecimento acerca de quantos profissionais existem para prestar esse aconselhamento e o provável baixo número de profissionais disponíveis. É desejável uma atuação conjunta dos Ministérios da Saúde e da Educação para ampliar a educação em genética e a formação em aconselhamento genético para todas as profissões no campo da saúde. Além disso, é essencial a inclusão da genética em programas como o Saúde da Família, que permitirá um mapeamento da incidência das doenças genéticas no país e a implementação de aconselhamento genético apesar do grande território e da heterogeneidade populacional do Brasil. Finalmente, a inserção da genética médica no SUS depende do engajamento de profissionais médicos e não médicos no trabalho em equipes horizontais, com alteração da tradicional hierarquia da atenção à saúde.

The present article deals with the difficulties of introducing medical genetics as part of the Brazilian public Unified Health System (SUS). A national policy of comprehensive care in medical genetics was established in 2009, having genetic counseling as a central pillar. However, there are strategic limitations to the implementation of this policy: a dearth of genetic counseling training programs, the lack of knowledge concerning the number of professionals available to provide genetic counseling, and the likely low number of professionals available for the job. A joint effort by the ministries of health and education is desirable to foster genetics and genetic counseling training for all health professions. In addition, genetics must be introduced in government programs such as the Family Health Program (Saúde da Família), a measure that would allow a mapping of the incidence of genetic diseases in the country and the implementation of genetic counseling despite the size of the territory and the population heterogeneity. Lastly, the introduction of medical genetics as part of the SUS depends on the engagement of medical and nonmedical professionals in horizontal teamwork, with a change in the hierarchy that has traditionally been at the foundations of health care.

Capacitação em genética médica para residentes em medicina de família e comunidade: relato de experiência / Training in medical genetics for residents in family and community medicine: report of experience

Este trabalho é o relato de uma experiência de capacitação, vivenciado por um residente do segundo ano do Programa de Residência em Medicina de Família e Comunidade da Universidade Federal de São Carlos, no Ambulatório de Genética Médica. A capacitação teve duração total de 60 horas, sendo 40 horas de atividades clínicas no ambulatório e 20 horas de atividades teóricas. O objetivo era que o residente se apropriasse de alguns fundamentos teóricos da genética médica, a partir da constatação das suas implicações na prática clínica, tornando a aprendizagem significativa.O médico residente foi capacitado para conduzir os problemas genéticos comuns no nível da atenção primária à saúde, encaminhando para o especialista somente aqueles pacientes que requerem cuidados especiais em termos de diagnóstico, investigação e tratamento. Foram enfatizadas as ações de cuidado em saúde possíveis de serem realizadas na atenção primária, notadamente no sentido de prevenção de deficiência mental e de anomalias congênitas. Com esta experiência, espera-se ter contribuído para formação de um médico de família e comunidade mais competente na área da genética médica.

This work is the report of an experience of training, experienced by a resident of the second year of Family and Community Medicine Residency Program of the Federal University of São Carlos, in the Ambulatory of Medical Genetics. The training had total duration of 60 hours, and 40 hours of clinical activities in the ambulatory and 20 hours of theoretical activities. The goal was the resident take possession of theoretical foundations of some medical genetics, from the findings of its implications for clinical practice, making learning meaningful. The resident doctor has been trained to conduct the genetic problems common in the level of primary health care, forwarding to the specialist only those patients who require special care in terms of diagnosis, treatment and research. We emphasized the actions of a health care possible to be implemented in primary care, notably in order to prevent mental retardation and congenital anomalies. The authors expectation is the experience may contribute for formation of a community family physician more competent in the field of medical genetics.

Knowledge about human genetics among school students of eastern Nepal.

School students from 10 to 19 years of age are adolescents. Adolescent girls are usually exposed to consequences of early marriage, pregnancy and increased responsibility. Genetic disorders are important issues to persons of the reproductive age group. History-taking and screening-tests could uncover risk factors that require diagnostic testing during pregnancy. Therefore, the present survey was conducted among 707 school students (55.6% males, 44.4% females) to find out their knowledge about human genetics. Data were collected as written responses to a close-ended questionnaire. The knowledge of students about human genetic was found to be poor. The majority of students was not aware of the prevalence of genetic disorders in the community. Many students (75%) felt that genetic laboratory facilities and counseling services are necessary in this country. More than half of the students did not know the name of a hospital where genetic laboratory services are available. The study indicates that there is a need to introduce the basics of human genetics in the school curriculum and to implement strategies for awareness programs about genetic disorders and their early detection for possible intervention.

Avaliação do ensino de genetica medica nos cursos de medicina do Brasil / Evaluation of teaching medical genetics in medical courses in Brazil

Nas últimas duas décadas, nos países desenvolvidos, têm sido publicados muitos artigos sobre educação médica em genética na tentativa de definir o que deve ser ensinado nas escolas médicas. Nos países em desenvolvimento, embora o treinamento e o ensino da genética médica venham sendo gradativamente introduzidos nos cursos de medicina, ainda são poucas as escolas médicas que têm uma disciplina de genética clínica e a maioria dos médicos não está informada sobre as modernas aplicações da genética na sua prática médica. No Brasil não há uma avaliação recente sobre o ensino da genética nos cursos médicos. O presente trabalho visa conhecer e caracterizar o ensino da genética nas escolas médicas brasileiras. Para tanto, a coleta dos dados, realizada entre outubro de 2000 e setembro de 2003, foi feita a partir de um questionário padrão, respondido por 57 das 105 escolas contatadas, com informações sobre a situação da genética nos seus currículos. Os principais resultados indicaram: 1) 91% das escolas médicas têm uma disciplina específica de genética, 2) os conteúdos vêm sendo introduzidos no ciclo profissional do curso, 3) em 36% das escolas, os alunos têm conteúdo de genética clínica em atividade prática com paciente, 4) a carga horária variou de 4 a 210 horas, e em 37% delas variou de 30 a 60 horas, 5) a maioria dos professores tem pós-graduação na área, 6) existe apenas um professor em 44% das escolas, 7) os conteúdos variam tanto nos tópicos apresentados quanto na sua extensão e profundidade e 8) os objetivos da aprendizagem não estão bem definidos. Conclui-se que o ensino da genética, apesar de estar bem estabelecido nas escolas médicas do país, ainda é extremamente variável e precisa de uma melhor definição dos objetivos direcionados para a prática médica.

Several attempts to define what should be taught and reports in medical genetics education have been published for the Iast two decades in developed countries. Although medical genetics education and training is slowIy being introduced in medical courses in deveIoping countries, few medical schools have a specific subject in clinical genetics and most physicians are not aware ofmodem applications of genetics in their practice. In Brazil there is no recent evaluation of genetics education for medical courses. This work aims to evaluate conditions and characteristics of genetics teaching in Brazilian medical schools. Data was obtained by questionnary forms answered by 57 of the 105 Brazilian Medical Schools, conceming the state of genetics education in the curricuIa. The results of the survey indicate that 91% of medical courses have a specific subject in genetics, that the contents are been introduced in latter years of the course and that student practical activities in clinical genetics with patients occur in 36% of the schools. The number of hours for genetics in each school varied from 4 to 210 hours; 37% ofthe schools were in the 30 to 60 hours range. Teachers are qualified in genetics or medical genetics but in 44% of the schools there is only one teacher for genetics. Contents are variabIe and Iearning objectives are not clear in the schools, and the programs vary in respect to topics included as well as in Iength and depth. The author conclude that although genetics teaching in medical schools is well established in Brazil, it is extremeIy varied and still demands a better definition of Iearning objectives directed for medical practice.

Lo que el médico debe saber sobre los genes / What the doctor must know on the genes

El evento más trascedental del campo de la medicina en el siglo 21 y tal vez en la historia humana, será el desciframiento completo del código genético y de la acción de cada gen en la conformación y fisiología de las personas y de las proteínas que producen. En los aproximadamente 40 mil genes en nuestros cromosomas está contenido el conocimiento de nuestro cuerpo: cómo se forman los órganos, los tejidos, cómo funciona el organismo a través de la vida por qué envejecemos, el color de la piel, los ojos, cómo llorar, caminar, reír, cómo reproducirnos e incluso en muchos cuán inteligentes seremos. El estudio del genoma nos permitirá predecir la aparición de enfermedades monogénicas y el riesgo aumentado de padecer enfermedades de herencia multifactorial mediante marcadores genéticos. Será posible la prevención y tratamiento de enfermedades como el cáncer que por ahora nos parecen increíbles.

Communicating basic genetics to patients with sickle-cell disease

This report describes an approach to explaining the basic genetics of sickle-cell disease to patients and their families in an uncomplicated yet sufficiently informative way. The areas covered include: the cause of the disease, its pathophysiology, and the importance of genetic counselling

Situación de los servicios de genética en Chile / Status of genetic services in Chile

Due to the demographic changes in Chile, where preventable causes of death are being controlled and congenital malformations arise as an important cause of morbidity and mortality during infancy, of pathological pregnancies and reproductive alterationns, medical genetics is becoming increasingly importtant. Using data from an inquiry that was answered by thirteen medical genetic centers in the country, this article reviews the history of the discipline in Chile, the available resources, the existent services, the main problems found and their eventual solutions genetics teaching and the research that is being conducted

Human molecular genetics research at the International Centre for Genetic Engineering and Biotechnology.

The ICGEB started its activity in 1987 as a special project of UNIDO (United Nations Industrial Development Organization) and operates now as a fully autonomous International Organization, of which 40 countries are members at present. The mandate of ICGEB is to become a Centre of excellence for research and training in modern biology addressed to the needs of the developing world. The ICGEB consists of two main laboratories, one in Trieste (where the direction of the Centre is also located) and one in New Delhi, plus a network of 30 Affiliated Centres. The Centre operates through: 1) specific research programs of hish scientific content at the Trieste and New Delhi laboratories; 2) long term training through post-doctoral and pre-doctoral fellowships; 3) short term training; 4) collaborative research program, through which the Centre finances research projects of major impact to the need of the Member States; 5) scientific services, namely consultation for scientific programs, distribution of reagents and a bioinformatics network particularly geared to the human genome research. The research on human molecular genetics in particularly active in the Trieste Component and concerns the study at the molecular level of several genes important for human health: control of DNA replication, response to infectious diseases, cardiocirculatory diseases, cystic fibrosis and cancer. The methodologies for developing new diagnostic methods and for developing gene therapy protocols are actively pursued. Through these programs, the member countries have access to state-of-the-art technologies anf know-how essential for the development of the molecular approaches to medicine brought forward by the study of the human genome.