Project description:A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.
Project description:The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics-based translational medicine mainly in the developed world. However, the development of such advances has been hampered in most parts of the developing world due to scarcity of resources and trained personnel. Genetics and genomic medicine are currently in the process of being integrated into the Sri Lankan health care system. These developments have taken place mainly due to the heightened awareness and increasing demands made by the public for provision of genetic diagnostic and therapeutic services in clinical care. Due to the exorbitant costs incurred in the maintenance of these services and the dearth of adequately trained manpower, only a few centers in the country, mainly in Universities or private sector, are currently engaged in providing these services to the public. This article aims to provide an overview of the genetics and genomic medicine services in Sri Lanka from its early developments to the current state.
Project description:IntroductionEmergency medicine (EM) was recognized as a specialty in Ecuador in 1993. Currently, there are two four-year EM residency programs and an estimated 300 residency-trained emergency physicians countrywide. This study describes the current challenges in EM in Ecuador.MethodsWe conducted 25 semi-structured, in-person interviews with residency-trained emergency physicians, general practitioners, public health specialists, prehospital personnel, and physicians from other specialties. The interviewer asked about challenges in the areas of emergency care, working conditions of emergency physicians, EM residency education, EM leadership, and prehospital care. We analyzed data for challenges and registered the number of interviewees who mentioned each challenge.ResultsInterviewees worked in the three largest cities in the country: Quito (60%); Guayaquil (20%); and Cuenca (20%). Interviewees included 16 (64%) residency-trained emergency physicians; six (24%) residency-trained physicians from other specialties working in or closely associated with the emergency department (ED); one (4%) general practitioner working in the ED; one (4%) specialist in disasters; and one (4%) paramedic. Shortage of medical supplies, need for better medico-legal protection, lack of EM residencies outside of Quito, and desire for more bedside teaching were the challenges mentioned with the highest frequency (each 44%). The next most frequently mentioned challenges (each 38%) were the need for better access to ultrasound equipment and the low presence of EM outside the capital city. Other challenges mentioned included the low demand for emergency physicians in private institutions, the lack of differential pay for night and weekends, need for more training in administration and leadership, need for a more effective EM national society, and lack of resources and experience in EM research.ConclusionEmergency medicine has a three-decade history in Ecuador, reaching important milestones such as the establishment of two EM residencies and a national EM society. Challenges remain in medical care, working conditions, residency education, leadership, and prehospital care. Stronger collaboration and advocacy among emergency physicians can help strengthen the specialty and improve emergency care.
Project description:A unique genetic background in an isolated population like that of Finland offers special opportunities for genetic research as well as for applying the genetic developments to the health care. On the other hand, the different genetic background may require local attempts to develop diagnostics and treatment as the selection of diseases and mutations differs from that in the other populations. In this review, we describe the experiences of research and health care in this genetic isolate starting from the identification of specific monogenic diseases enriched in the Finnish population all the way to implementing the knowledge of the unique genetic background to genomic medicine at population level.
Project description:Knowledge of genetics is crucial for understanding genetic and genomic tests and for interpreting personal genomic information. Despite this relevance, no data are available about the level of knowledge of genetics in an Ecuadorian population. This investigation sought to survey such knowledge in undergraduate students affiliated with private and public institutions in Quito, the capital city of Ecuador. A total of 350 individuals responded to a validated questionnaire measuring knowledge of genetics. Scores ranged from 45% to 87% (mean: 66.8%), and students achieved slightly better results when asked about genetics and diseases (mean score: 68.3%) than when asked about genetic facts (mean score: 64.9%). Additionally, no significant differences in performance were found among students from private and public institutions. Surprisingly, the lower score obtained (45%) was from a question about how chromosomes are passed to the next generation. The highly educated status of the surveyed population could explain the overall results; nonetheless, the possibility that the correct responses were given by chance cannot be ignored. Therefore, the actual knowledge of genetics among the participants might be different than that revealed by the percentages of correct answers. Consequently, to achieve the goal of ensuring informed decision-making concerning genetic and genomic tests, it seems evident that the national education programs of Ecuador require improvement in the teaching of genetic concepts.
Project description:Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional. Ciliary disorders may be isolated or syndromic, and common features are cystic liver and/or kidney disease, blindness, neural tube defects, brain anomalies and intellectual disability, skeletal abnormalities ranging from polydactyly to abnormally short ribs and limbs, ectodermal defects, obesity, situs inversus, infertility, and recurrent respiratory tract infections. In this review, we summarize the features, frequency, morbidity, and mortality of each of the different ciliopathies that occur in pediatrics. The importance of genetics and the occurrence of genotype-phenotype correlations are indicated, and advances in gene identification are discussed. The use of next-generation sequencing by which a gene panel or all genes can be screened in a single experiment is highlighted as this technology significantly lowered costs and time of the mutation detection process in the past. We discuss the challenges of this new technology and briefly touch upon the use of whole-exome sequencing as a diagnostic test for ciliary disorders. Finally, a perspective on the future of genetics in the context of ciliary disorders is provided.
Project description:Unbiased genetic approaches, especially genome-wide association studies, have identified novel genetic targets in the pathogenesis of asthma, but so far these targets account for only a small proportion of the heritability of asthma. Recognition of the importance of disease heterogeneity, the need for improved disease phenotyping, and the fact that genes involved in the inception of asthma are likely to be different from those involved in severity widens the scope of asthma genetics. The identification of genes implicated in several causal pathways suggests that genetic scores could be used to capture the effect of genetic variations on individuals. Gene-environment interaction adds another layer of complexity, which is being successfully explored by epigenetic approaches. Pharmacogenetics is one example of how gene-environment interactions are already being taken into account in the identification of drug responders and non-responders, and patients most susceptible to adverse effects. Such applications represent one component of personalised medicine, an approach that places the individual at the centre of health care.
Project description:The concept of 'evidence-based medicine' dates back to mid-19th century or even earlier. It remains pivotal in planning, funding and in delivering the health care. Clinicians, public health practitioners, health commissioners/purchasers, health planners, politicians and public seek formal 'evidence' in approving any form of health care provision. Essentially 'evidence-based medicine' aims at the conscientious, explicit and judicious use of the current best evidence in making decisions about the care of individual patients. It is in fact the 'personalised medicine' in practice. Since the completion of the human genome project and the rapid accumulation of huge amount of data, scientists and physicians alike are excited on the prospect of 'personalised health care' based on individual's genotype and phenotype. The first decade of the new millennium now witnesses the transition from 'evidence-based medicine' to the 'genomic medicine'. The practice of medicine, including health promotion and prevention of disease, stands now at a wide-open road as the scientific and medical community embraces itself with the rapidly expanding and revolutionising field of genomic medicine. This article reviews the rapid transformation of modern medicine from the 'evidence-based medicine' to 'genomic medicine'.