Basic Genetic Concepts Research Articles

Скачена с x-хромозомата рецесивна наследственост интердисциплинарен урок по биология, история и английски език

The lesson “X-linked recessive inheritance” is interdisciplinary, part of the curriculum of the innovative subject of Science and technology. It is based on Content Language Integrated Learning and not only combines subject content and foreign language skills, but unites more than one scientific field. In our case, we examined a biological process through the lens of the English language and in a historical context. This provided a deeper understanding of the processes in our surroundings, proving that nothing operates in isolation, but in constant and predictable connections with the world around us. The topic deals with basic concepts of genetics in English, tracing the ability of recessive genes on the X-chromosome to be inherited only by the female descendants. We worked with VIII grade students, for whom this lesson was their first encounter with genetics. The content of all lesson material is adapted to the age and grade of the students.

Boosting life sciences research in Brazil: building a case for a local Drosophila stock center.

Drosophila melanogaster is undoubtedly one of the most useful model organisms in biology. Initially used in solidifying the principles of heredity, and establishing the basic concepts of population genetics and of the synthetic theory of evolution, it can currently offer scientists much more: the possibility of investigating a plethora of cellular and biological mechanisms, from development and function of the immune system to animal neurogenesis, tumorigenesis and beyond. Extensive resources are available for the community of Drosophila researchers worldwide, including an ever-growing number of mutant, transgenic and genomically-edited lines currently carried by stock centers in North America, Europe and Asia. Here, we provide evidence for the importance of stock centers in sustaining the substantial increase in the output of Drosophila research worldwide in recent decades. We also discuss the challenges that Brazilian Drosophila scientists face to keep their research projects internationally competitive, and argue that difficulties in importing fly lines from international stock centers have significantly stalled the progression of all Drosophila research areas in the country. Establishing a local stock center might be the first step towards building a strong local Drosophila community that will likely contribute to all areas of life sciences research.

Effectiveness of Serious Games in Improving Genetic Literacy and Genetic Risk Awareness in the General Public: A Pilot Study.

Background: Genomics is an integral part of medical science; however, European citizens' literacy on basic genetic concepts is still poor. The aim of this study was to evaluate the effectiveness of Serious Games (SGs) in increasing genetic literacy in laypeople and to assess the impact of SGs on participants' perceived self-efficacy (SE) in managing genetic risk implications. Materials and Methods: Two minigames and an adventure game were created, together with leaflets reporting the same information as the SGs. Sixty participants enrolled at baseline and completed a brief sociodemographic questionnaire and an ad hoc questionnaire assessing their genetic knowledge. They were assigned to the SGs group (30 subjects) or to the Leaflets group (30 subjects) by matching age and sex. Both groups had about 40 minutes to play the SGs or to read the leaflets. In the postlearning session, participants completed the same genetic knowledge questionnaires administered at baseline and five items from the Self-Efficacy Scale, whereas the SGs group also filled in the In-Game Experience Questionnaire. Results and Conclusion: Results showed that learning genetic concepts through SGs was comparable to learning through leaflets. Playing SGs was also associated with poor feelings of frustration or annoyance, good engagement in the game challenges and contents, and positive feelings, particularly in subjects under 30 years. Participants perceiving SE increased significantly in both Leaflets and SGs groups, but the effect was higher for SGs players. SGs have the potential to increase genetic literacy in the public by making the learning process more engaging, pleasant and by enhancing SE.

Investigating the Quality of Enacted Pedagogical Content Knowledge by Mapping Out Component Interactions: A Case Study of a Teacher Educator Teaching Basic Genetics

ABSTRACT The teaching of genetics has not been effective in promoting a scientifically acceptable understanding of basic genetics concepts. This study addresses that gap by reporting on topic-specific pedagogical content knowledge (PCK) enacted by a teacher educator as she teaches a content course on basic genetics concepts to fourth-year pre-service teachers. A qualitative case study was conducted to investigate the nature of manifested content specific component interactions and the possible value in enhancing the learning of basic genetics concepts. This study is rooted in the refined consensus model of PCK with a focus on the enacted PCK (ePCK). The PCK framework informed the understanding of the ePCK components in this study as well as the design of an ePCK rubric and other qualitative analysis enablers. They were used in this study to analyze the data captured through written Content Representations (CoRes), video-recorded lectures, and interviews over a 3-year period. The findings indicate that the ePCK manifested in planning and teaching was reasoned pedagogically and of high quality and more so, perceived to enhance students’ learning. By year three, revealed ePCK consisted mostly of proficient and sophisticated ePCK with coherent component interactions that are indicative of enriched explanations and learning tasks such as the sequencing of the concepts, well-thought-out instructional representations, and learner prior knowledge. Therefore, the generated insights are strong evidence about the kind of teaching that can significantly address misconceptions and what makes genetics concepts difficult to learn- a knowledge that should be significant to others in the field.

Basic concepts of cancer genetics and receptor tyrosine kinase inhibition for pharmacists. A narrative review.

The intent of this review is to present basic genetic concepts key to understanding oncogenesis and the role receptor tyrosine kinase (RTK) inhibition plays in the targeted treatment of many cancer types. Oncogenic signaling by RTKs can result from genetic events such as point mutations, chromosomal rearrangements, structural variation, and gene amplification in the cancer genome. The cancer pharmacogenes discussed encode RTKs that exemplify the link between gene variation, the oncogenic process, and the basis of targeted approaches to treatment. Biochemical pathways often involved in oncogenesis and affected by RTK variation are reviewed. Molecular diagnostic testing for the presence of specific gene variants, alterations, and amplifications direct therapy to indicated tyrosine kinase inhibitors and monoclonal antibody drugs. As pharmacists are integral to the selection, preparation, and monitoring of chemotherapy, it is important that they understand the genetic basis for targeted therapies as well as the underlying disease process.

Understanding changes in genetic literacy over time and in genetic research participants

As genomic and personalized medicine becomes mainstream, assessing and understanding the public's genetic literacy is paramount. Because genetic research drives innovation and involves much of the public, it is equally important to assess its impact on genetic literacy. We designed a survey to assess genetic literacy in three ways (familiarity, knowledge, and skills) and distributed it to two distinct samples: 2,050 members of the general population and 2,023 individuals currently enrolled in a large-scale genetic research study. Wecompared these data to a similar survey implemented in 2013. The results indicate that familiarity with basic genetic terms in 2021 (M= 5.36 [range 1-7], p<0.001) and knowledge of genetic concepts in 2021 (M= 9.06 [56.6% correct], p= 0.002) are significantly higher compared to 2013 (familiarity: M= 5.08 [range 1-7]; knowledge: M= 8.72 [54.5% correct]). Those currently enrolled in a genetic study were also significantly more familiar with genetic terms (M= 5.79 [range 1-7], p<0.001) and more knowledgeable of genetic concepts (M= 10.57 [66.1% correct], p<0.001), and they scored higher in skills (M= 3.57 [59.5% correct], p<0.001) than the general population (M= 5.36 [range 1-7]; M= 9.06 [56.6% correct]; M= 2.65 [44.2% correct]). The results suggest that genetic literacy is improving over time, with room for improvement. We conclude that educational interventions are needed to ensure familiarity with and comprehension of basic genetic concepts and suggest further exploration of the impact of genetic research participation on genetic literacy to determine mechanisms for potential interventions.

Genetic concepts in inherited cardiac conditions

Advances in techniques and reduced costs have led to increased use of genetics in cardiovascular care and, in particular, the field of inherited cardiac conditions. While there are specialist services for the diagnosis and management of these conditions, patients and family members are seen across cardiovascular services. Therefore, all nurses need to be aware of the various aspects of care required by these patients and have confidence in engaging in discussions around their genetic healthcare needs. This article is the first in a series about genetics. It provides information about basic genetic concepts relating to inherited cardiac conditions, the process and uses of genetic testing, the potential psychosocial impact and the key role of the nurse in genetic healthcare for patients and their families.

Mapping Australian pharmacy school curricula for content related to pharmacogenomics

BackgroundPharmacogenomics (PGx) is a rapidly growing field which promises to deliver personalized, more effective medications tailored to genetic information. Although the pharmacy profession is expected to lead the translation of pharmacogenomics into widespread clinical implementation, there is a reported lack of preparedness among its members. Assessing pharmacogenomic-related training in Australian pharmacy program curricula may highlight educational gaps and provide guidance for curricula revision. ObjectiveTo examine pharmacogenomic content in Australian tertiary pharmacy program curricula. MethodsWe reviewed the curriculum of 22 Australian registrable pharmacy degrees, including 16 Bachelors of Pharmacy programs (with or without honors) and six Masters of Pharmacy programs, for content related to pharmacogenomics and genetics. This was done by screening the publicly available electronic course profiles on each institution's website and searching for key terms such as “pharmacogenomics,” “pharmacogenetics,” “genes,” and “genetics”. Three mapping activities were completed to assess the breadth and depth of pharmacogenomic training according to; 1. Bloom's taxonomy, 2. Author-assigned domains comprising; Enabling science, Translational science and Clinical implementation, and 3. Pharmacogenomic competencies from the National Human Genome Research Institute (NHGRI). ResultsA total of 18 (82%) pharmacy registrable degree programs incorporated pharmacogenomics and/or genetics in their curricula. Four programs (18%) offered standalone PGx courses and 10 (45%) contained integrated PGx content in other science-related courses (i.e. pharmaceutical biology, biochemistry, microbiology etc.). Mapping activities showed that most learning objectives related to the “Understand” level of Bloom's taxonomy (61%), the “Basic Genetic Concepts” domain of NHGRI's competencies (64%) and “Enabling science” (84%). ConclusionsMost Australian pharmacy registrable degrees have incorporated pharmacogenomic content in their curricula however, the scope of training is limited. Revisions to course curricula should be made to incorporate additional education with a focus on application-based training of clinical pharmacogenomics.

Medical genetics education for pediatrics residents: A brief report

PurposeGenetic testing is ubiquitous in the field of medicine and is often ordered or requested by primary care providers, nongenetics subspecialists, and patients themselves. Other studies have shown that providers are often not comfortable ordering genetic testing. There have been initiatives to teach these concepts via continuing medical education; however, there is not a standardized training program for teaching resident physicians about genetic testing. MethodsDuring September to October 2020, we recruited all the pediatrics residents at our institution via email (N = 102). Residents were invited to complete a Qualtrics electronic survey that addressed self-perceived level of knowledge about core concepts of genetic testing, as well as self-perceived confidence discussing these concepts with families. ResultsResponse rate was 46 to 102 (45%). Proportions of respondents reporting they felt insufficiently knowledgeable ranged from 28% (basic concepts of genetics) to 80% (Genetic Information Nondiscrimination Act). Most pediatrics residents agreed that a curriculum teaching basics of genetic testing would be helpful to them. Desired curricular topics included indications and limitations of genetic testing, testing procedures, and counseling families. ConclusionDespite its expanding importance across medicine, genetics education is lacking in pediatrics residency programs and residents would benefit from a curriculum teaching basic concepts of genetic testing.

Knowledge about some aspects of Genetics in physicians of primary care

Introduction: the national program for diagnosis, management and prevention of genetic diseases is being conducted in our country with the main goal of a community-based scope, being applied by general comprehensive physicians. Mistakes in interpreting basic concepts in Genetics usually appear among family doctors and may disturb the proper development of the program. Objective: to identify training needs among professionals working in primary health care about Clinical Genetics. Methods: a descriptive and transversal research was conducted. An evaluation instrument validated by experts, was applied to18 doctors working in the primary health care areas of the Faculty of Medical Sciences Miguel Enriquez, who voluntarily accepted to participate in the research. Results: in most cases amniocentesis concept was no correct. This mistake was also observed in the literature. Doctors graduated after 2009, who were taught Medical Genetics as a curricular subject, had the best results. Conclusions: the design of postgraduate courses in Genetics, for doctors working in primary healthcare, must also include practical features, and emphasize on some conpts necessary for the development of the Genetics program

A QUALITATIVE AND QUANTITATIVE APPROACH ABOUT A LUDIC STRATEGY FOR TEACHING-LEARNING: THE TRIOMINOES OF GENETICS.

Learning is a systematic and interactive process that involves the exchange of information between pupils and teachers. The knowledge constructed during the learning process represents the basis for the cognitive, emotional and psychomotor education of the student, further contributing to the teacher's formation. Among the different subjects approached during basic education, and especially secondary school, Genetics is one that presents complex concepts, making it difficult for pupils to comprehend and therefore learn. With the aim of facilitating the process of teaching-learning the basic concepts of Genetics, the present study elaborated and applied a new ludic proposal, the game Triominoes. In this scope, Triominoes was created with 40 triangular tiles containing, on each face, complementary terms and concepts. Based on the answers to a questionnaire applied after the activity, this ludic strategy was analyzed qualitatively and quantitatively. Through these analyses, the Triominoes helped in the teaching-learning process, the development of logical-deductive reasoning, exploring the cognitive, emotional and psychomotor abilities of the learners. Therefore, Triominoes can be considered an innovative, viable and low-cost pedagogical material, which could be routinely employed for the teaching of Genetics as well as other contents from different subjects of the basic, secondary and higher education.

The genetic basis of congenital anomalies of the kidney and urinary tract.

During the past decades, remarkable progress has been made in our understanding of the molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing genetic changes. Congenital anomalies of the kidney and urinary tract (CAKUT) are remarkably diverse, and may be either isolated to the kidney or involve other systems, and are notorious in their variable genotype-phenotype correlations. Genetic conditions underlying CAKUT are individually rare, but collectively contribute to disease etiology in ~ 16% of children with CAKUT. In this review, we will discuss basic concepts of kidney development and genetics, common causes of monogenic CAKUT, and the approach to diagnosing and managing a patient with suspected monogenic CAKUT. Altogether, the concepts presented herein represent an introduction to the emergence of nephrogenetics, a fast-growing multi-disciplinary field that is focused on deciphering the causes and manifestations of genetic kidney diseases as well as providing the framework for managing patients with genetic forms of CAKUT.

Neuroimaging of primary mitochondrial disorders in children: A review.

Mitochondrial disorders represent a diverse and complex group of entities typified by defective energy metabolism. The mitochondrial oxidative phosphorylation system is typically impaired, which is the predominant source of energy production. Because mitochondria are present in nearly all organs, multiple systems may be affected including the central nervous system, skeletal muscles, kidneys, and liver. In particular, those organs that are metabolically active with high energy demands are explicitly vulnerable. Initial diagnostic work up relies on a detailed evaluation of clinical symptoms including physical examination as well as a comprehensive review of the evolution of symptoms over time, relation to possible "triggering" events (eg, fever, infection), blood workup, and family history. High-end neuroimaging plays a pivotal role in establishing diagnosis, narrowing differential diagnosis, monitoring disease progression, and predicting prognosis. The pattern and characteristics of the neuroimaging findings are often highly suggestive of a mitochondrial disorder; unfortunately, in many cases the wide variability of involved metabolic processes prevents a more specific subclassification. Consequently, additional diagnostic steps including muscle biopsy, metabolic workup, and genetic tests are necessary. In the current manuscript, basic concepts of energy production, genetics, and inheritance patterns are reviewed. In addition, the imaging findings of several illustrative mitochondrial disorders are presented to familiarize the involved physicians with pediatric mitochondrial disorders. In addition, the significance of spinal cord imaging and the value of "reversed image-based discovery" for the recognition and correct (re-)classification of mitochondrial disorders is discussed.

Rare Diseases - Orphan Drugs

Rare diseases (RDs) are a class of diseases that do not affect most of the population. Apart from the common diseases that affect most people, some severely rare diseases often pose unique challenges to society and the healthcare systems in India. According to the National Institute of Health (NIH), the F.D.A., and the National Organization for Rare Disorders (NORD), a rare disease is any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States as defined by the Orphan Drug Designation Program. However, 95% of rare diseases currently have no treatment available. Healthcare Experts estimate that around 7000 rare diseases have been identified globally, out of which 450 have been reported in India, like hemophilia, thalas-semia, sickle cell anemia, and Pompe’s disease. Rare diseases come in many forms, including cancers and auto-immune diseases. Drugs for rare diseases are among the highest-priced medications on the market than other common drugs. A medical advisory board of nationally recognized and specialized physicians can help build in-depth case management tools and clinical decision support systems to develop and advance novel therapies. Recognition of carriers harbouring clinically pathogenic genetic vari-ations is essential to provide proper genetic counselling to the patient and management. The precise delineation of distinct RDs is possible through a meticulous clinical evaluation of the patients and their genetic screening. The Electronic Health Record (E.H.R.) helps foster collaboration and better outcomes. A holistic approach should be integrated across health care providers, both at the pharmacy and medical level, that helps improve patient experience and outcomes and reduce costs. Strong health poli-cies and initiatives are required both from private and government institutions for orphan drug development. A separate course on Clinical Genetics must be included in the academic curriculum of medical students in order to provide them knowledge on the basic concepts of genetics and its applications in human health.

Genetic Analysis of Plant Pathogens Natural Populations.

Population genetics allow to address fundamental questions about the biology of plant pathogens. By testing specific hypotheses, population genetics provide insights into the population genetic variability of pathogens across different geographical areas, time, and associated plant hosts, as well as on the structure and differentiation of populations, and on the possibility that a population is introduced and from where it has originated. In this chapter, basic concepts of population genetics are introduced, as well as the five evolutionary factors affecting populations, that is, mutations, recombination, variation in population size, gene flow, and natural selection. A step-by-step workflow, from sampling to data analysis, on how to perform a genetic analysis of natural populations of plant pathogens is discussed. Increased knowledge of the population biology of pathogens is pivotal to improve management strategies of diseases in agricultural and forest ecosystems.

Genetic Testing in Neurology: What Every Neurologist Must Know.

Approximately 80% genes have an active expression in the brain and 40% of known genetic disorders affect the central nervous system. Revolutionary techniques like next-genome sequencing have solved the problem of the diagnostic odyssey in neurological genetic diseases. As several studies have shown the cost-effectiveness of next-genome sequencing compared to the older tests available in our diagnostic armamentarium, it becomes imperative to know about these genetic mutations and the tests available to diagnose them. We have tried to explain the basic concepts of genetics, the selection of available tests and their interpretation for neurophysicians.

What do Students Really Understand? Secondary Education Students’ Conceptions of Genetics

Abstract: Individuals with a secondary education should have a knowledge level sufficient to make sense of what they read or hear about genetics, and they should be able to think scientifically in evaluation and decision-making processes. The purpose of this study is to identify the basic understanding of secondary education students about genetic concepts and the reasons for the difficulty of learning and teaching genetics. Semi-structured interviews that include student drawings have been conducted with 24 students to gain a comprehensive perspective on secondary education students’ understanding of the basic concepts of genetics. The answers given by the students to the interview questions and their drawings have been analyzed with content analysis. Qualitative data analyzed with a holistic point of view were collected and evaluated under the categories of ‘DNA, gene and chromosome’ and ‘Cell divisions and heredity relationship.’ As a general result, it has been found that students have inaccurate and inconsistent information about the basic concepts of genetics, have difficulties in establishing relationships between these concepts, and cannot fully understand and explain the processes underlying genetic events. It has been observed that various factors have an effect on this result. It will be possible to support students to develop a more accurate understanding of genetic concepts and issues by working on the weaknesses in genetics teaching, providing an enriched teaching environment with current teaching methods and materials, and moving away from rote learning.

Student Primary Teachers\u2019 Knowledge and Attitudes Towards Biotechnology\u2014Are They Prepared to Teach Biotechnological Literacy?

The speed of development of biotechnology within agriculture, industry, and medicine has changed our lives, and we need a biotechnological literacy to understand it. This implies that teachers in primary schools need to be biotechnologically literate in order to educate future generations. The aim of this study was to investigate Swedish pre-service primary school teachers’ knowledge of and attitudes towards biotechnology and contextualize the results by comparing them with a corresponding group of Spanish teachers. Data was collected using the established questionnaire instrument Biotech XXI and analyzed statistically. The findings demonstrate that Swedish pre-service primary school teachers have knowledge gaps relating to the basic genetic concepts that underpin biotechnology, although they are aware of biotechnological applications. Their attitudes are quite positive towards biotechnological applications in health, but less so to buying and using genetically modified products. Higher levels of knowledge were correlated with more positive attitudes, indicating an attitudinal basis for expanding the knowledge of and teaching practices for biotechnology among primary teachers. The level of knowledge and attitudes in the Swedish sample were similar to those of the Spanish teachers, suggesting a similar situation may be prevalent in many countries. The results indicate a need to reconsider the science curricula within pre-service primary school teacher training programs in order to better prepare primary teachers for teaching biotechnological literacy.

Evolutionary genetics and acclimatization in nephrology.

Evolutionary processes, including mutation, migration and natural selection, have influenced the prevalence and distribution of various disorders in humans. However, despite a few well-known examples, such as the APOL1 variants — which have undergone positive genetic selection for their ability to confer resistance to Trypanosoma brucei infection but confer a higher risk of chronic kidney disease — little is known about the effects of evolutionary processes that have shaped genetic variation on kidney disease. An understanding of basic concepts in evolutionary genetics provides an opportunity to consider how findings from ancient and archaic genomes could inform our knowledge of evolution and provide insights into how population migration and genetic admixture have shaped the current distribution and landscape of human kidney-associated diseases. Differences in exposures to infectious agents, environmental toxins, dietary components and climate also have the potential to influence the evolutionary genetics of kidneys. Of note, selective pressure on loci associated with kidney disease is often from non-kidney diseases, and thus it is important to understand how the link between genome-wide selected loci and kidney disease occurs in relation to secondary nephropathies.

Fit in your genes: an introduction to genes and epigenetics for forensic practitioners

Purpose This paper aims to provide a brief and accessible introduction to genetics and epigenetics for forensic practitioners. It provides two primers which define key genetic concepts and explain what epigenetic mechanisms actually are. The primers are provided alongside sections that focus on genetic research relevant to forensic practice, with a range of key messages that support the call to contextualise harmful behaviour and build better awareness of gene-environment relationships. Design/methodology/approach This is an opinion paper. Findings Select and seminal studies from the genetic literature that have forensic practice relevance are cited. These include studies from candidate gene research and epigenetic research. They highlight a number of key themes, including the way neurodevelopment and behaviour are contextually adjusted to fit certain environments, with epigenetic changes being an underpinning biological mechanism that facilitates this. Research limitations/implications This article aims to introduce forensic practitioners to basic concepts in genetics and epigenetics so that they are able to engage with the relevant literature and understand the far-reaching implications for forensic practice. Practical implications It is becoming increasingly useful for forensic practitioners to appreciate how life experiences are encoded into biology through epigenetics. This paper highlights the potential of genetic and epigenetic research to provide major contributions to real-world practice in the coming years. It provides a modern biopsychosocial perspective on harmful behaviour and helps deepen the understanding of our efforts to support behaviour change. It offers ways to think of social and rehabilitative initiatives in biological terms. Originality/value This paper is one of few modern texts that focusses on the relevance of genetic and epigenetic research in applied forensic practice. It aims to introduce relevant concepts in an accessible manor. It intends to introduce biologically informed ways of understanding harmful behaviour within context and with attention to its function. It contributes to a de-pathologising narrative.