Genetics in psychiatry

Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications.     

Education of nurses in genetics.

The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetics education provided support for the examination of genetics content in curricula for health professionals, including nurses, and for the development of model programs to expand this content. Recent efforts to begin to develop a pool of nurse faculty who are well prepared in genetics will be described, as well as programs to provide the necessary content through continuing-education efforts. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services.     

中国遗传学教学40年发展及展望

1978年以来,在中国遗传学会的指导和帮助下,中国遗传学教育工作者在遗传学教学体系、教材建设、教学内容、教学研讨、实验教学、新技术应用等方面进行了全面而系统的探索与改革,成效显著,促进了我国遗传学教育教学事业的大发展,为我国经济和社会发展培养了大批优秀的遗传学人才。本文总结了近40年来中国遗传学教学的改革成就,并对其未来的发展提出了建议,期待中国遗传学教学质量在新时代再上新台阶。     

Discovering pluripotency: 30 years of mouse embryonic stem cells

Embryonic stem (ES) cells are pluripotent cells isolated from an early embryo and grown as a cell line in tissue culture. Their discovery came from the conjunction of studies in human pathology, mouse genetics, early mouse embryo development, cell surface immunology and tissue culture. ES cells provided a crucial tool for manipulating mouse embryos to study mouse genetics, development and physiology. They have not only revolutionized experimental mammalian genetics but, with the advent of equivalent human ES cells, have now opened new vistas for regenerative medicine.     

Toward a new synthesis: population genetics and evolutionary developmental biology

Despite the recent synthesis of developmental genetics and evolutionary biology, current theories of adaptation are still strictly phenomenological and do not yet consider the implications of how phenotypes are constructed from genotypes. Given the ubiquity of regulatory genetic pathways in developmental processes, we contend that study of the population genetics of these pathways should become a major research program. We discuss the role divergence in regulatory developmental genetic pathways may play in speciation, focusing on our theoretical and computational investigations. We also discuss the population genetics of molecular co-option, arguing that mutations of large effect are not needed for co-option. We offer a prospectus for future research, arguing for a new synthesis of the population genetics of development.     

Linkage of genetics and ethics: more crossing over is needed

Since the development of recombinant DNA technology in the mid 1970s, there has been increasing interest in the ethical, legal, and social implications of genetics and related fields. The web sites of five different organizations (government, academic, and independent not-for-profit) that deal explicitly with genetics and ethics are reviewed here. Some of the sites cover genetics and other issues in bioethics while others cover human genetics exclusively. The target audiences for the sites include medical and scientific professionals, students, and the general public. Among the issues examined are genetic testing, genetic discrimination in employment and health insurance, genetically modified foods, stem cells and DNA patenting. Resources for those interested in legal issues are particularly well-represented on these sites.     

Axiomatization of genetics. 1. Biological meaning

Axiomatization is a trend in science to settle and reduce fundamental assertions, from which all the others are deducible. Classical genetics has been extensively axiomatized and formalized by Woodger (1952), who resorted to 53 axioms and 12 theorems. The molecular settlement of modern genetics provides the basis for a different axiomatic theory. In this paper 3 axioms and 14 theorems are informally expressed. They cover a few elementary laws of "chromosome genetics" in Eukaryotes. The biological problems connected with the further development of this first attempt are discussed.     

保护生物学一新分支学科——保护遗传学

研究人类对生物多样性的影响以及防止物种灭绝是保护生物学的两个主要目的。随着环境日益恶化、分子遗传学的迅速发展以及保护生物学和分子遗传学的不为民相互渗透,和产生了一全新的分支学科－－保护遗传学。保护遗传学是保护生物学研究中的一个核心部分,主要研究濒危物种的遗传多样性和保护物种的进化潜力。目前保护遗传学已成为国际上的一个研究热点,但在我国才刚刚起步,为此,本文就保护,遗传学的产生和发展及其研究内容和意义作一简要介绍,以推动我国在该方面的研究。     

Development of genetic systems for Toxoplasma gondii

The protozoan parasite Toxoplasma gondii has recently emerged as an important opportunistic pathogen in humans. Toxoplasma also shares a number of biological features with Plasmodium and Eimeria, which are important pathogens of humans and animals. Because o f the ease o f experimental use, David Sibley, Elmer Pfefferkom and John Boothroyd have undertaken the development of genetics in Toxoplasma as a model intracellular parasite. Toxoplasma is presently the only parasitic protozoan where both classical and molecular genetics are feasible. The recent advances in this system are highlighted here, along with potential applications of genetics for understanding intracellular parasitism.     

遗传学史在遗传学教学中的作用

科学史的研究和发展状况能反映一个国家的科学技术水平,遗传学史是生命科学发展史的一个重要分支,21世纪是生命科学的世纪,在遗传学教学中加强遗传学发展史的介绍,不仅具有教育功能,使学生了解遗传学的产生和发展,而且可以培养学生的思维能力和科学素质。本文就遗传学史的教育功能及在教学中的作用进行论述。     

Conservation genetics and genomics of threatened vertebrates in China

Conservation genetics and genomics are two independent disciplines that focus on using new techniques in genetics and genomics to solve problems in conservation biology. During the past two decades, conservation genetics and genomics have experienced rapid progress. Here, we summarize the research advances in the conservation genetics and genomics of threatened vertebrates (e.g., carnivorans, primates, ungulates, cetaceans, avians, amphibians and reptiles) in China. First, we introduce the concepts of conservation genetics and genomics and their development. Second, we review the recent advances in conservation genetics research, including noninvasive genetics and landscape genetics. Third, we summarize the progress in conservation genomics research, which mainly focuses on resolving genetic problems relevant to conservation such as genetic diversity, genetic structure, demographic history, and genomic evolution and adaptation. Finally, we discuss the future directions of conservation genetics and genomics.     

Development of a genetics education workshop curriculum for Native American college and university students.

The long-term goal of Genetic Education for Native Americans (GENA), a project funded by the National Human Genome Research Institute (NHGRI), is to provide a balance of scientific and cultural information about genetics and genetic research to Native Americans and thereby to improve informed decision making. The project provides culturally sensitive education about genetic research to Native American medical students and college and university students. Curriculum development included focus groups, extensive review of available curricula, and collection of information about career opportunities in genetics. Special attention was focused on genetic research to identify key concepts, instructional methods, and issues that are potentially troublesome or sensitive for Native Americans. Content on genetic research and careers in genetics was adapted from a wide variety of sources for use in the curriculum. The resulting GENA curriculum is based on 24 objectives arranged into modules customized for selected science-related conference participants. The curriculum was pretested with Native American students, medical and general university, health care professionals, and basic scientists. Implementation of the curriculum is ongoing. This article describes the development and pretesting of the genetics curriculum for the project with the expectation that the curriculum will be useful for genetics educators working in diverse settings.     

Discovering susceptibility genes for asthma and allergy

Asthma and asthma-related traits are complex diseases with strong genetic and environmental components. Rapid progress in asthma genetics has led to the identification of several candidate genes that are associated with asthma-related traits. Typically the phenotypic impact of each of these genes, including the ones most often replicated in association studies, is mild, but larger effects may occur when multiple variants synergize within a permissive environmental context. Despite the achievements made in asthma genetics formidable challenges remain. The development of novel, powerful tools for gene discovery, and a closer integration of genetics and biology, should help to overcome these challenges.     

Innovations in human genetics education. Incorporation of genetics into a problem-based medical school curriculum.

There has been recent interest in the development of problem-based human genetics curricula in U.S. medical schools. The College of Human Medicine at Michigan State University has had a problem-based curriculum since 1974. The vertical integration of genetics within the problem-based curriculum, called "Track II," has recently been revised. On first inspection, the curriculum appeared to lack a significant genetics component; however, on further analysis it was found that many genetics concepts were covered in the biochemistry, microbiology, pathology, and clinical science components. Both basic science concepts and clinical applications of genetics are covered in the curriculum by providing appropriate references for basic concepts and including inherited conditions within the differential diagnosis in the cases studied. Evaluations consist of a multiple-choice content exam and a modified essay exam based on a clinical case, allowing evaluation of both basic concepts and problem-solving ability. This curriculum prepares students to use genetics in a clinical context in their future careers.     

From sequence to phenotype: reverse genetics in Drosophila melanogaster

There has been a long history of innovation and development of tools for gene discovery and genetic analysis in Drosophila melanogaster. This includes methods to induce mutations and to screen for those mutations that disrupt specific processes, methods to map mutations genetically and physically, and methods to clone and characterize genes at the molecular level. Modern genetics also requires techniques to do the reverse to disrupt the functions of specific genes, the sequences of which are already known. This is the process referred to as reverse genetics. During recent years, some valuable new methods for conducting reverse genetics in Drosophila have been developed.     

CRISPR: a versatile tool for both forward and reverse genetics research

Human genetics research employs the two opposing approaches of forward and reverse genetics. While forward genetics identifies and links a mutation to an observed disease etiology, reverse genetics induces mutations in model organisms to study their role in disease. In most cases, causality for mutations identified by forward genetics is confirmed by reverse genetics through the development of genetically engineered animal models and an assessment of whether the model can recapitulate the disease. While many technological advances have helped improve these approaches, some gaps still remain. CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated), which has emerged as a revolutionary genetic engineering tool, holds great promise for closing such gaps. By combining the benefits of forward and reverse genetics, it has dramatically expedited human genetics research. We provide a perspective on the power of CRISPR-based forward and reverse genetics tools in human genetics and discuss its applications using some disease examples.     

Recombineering mycobacteria and their phages

Bacteriophages are central components in the development of molecular tools for microbial genetics. Mycobacteriophages have proven to be a rich resource for tuberculosis genetics, and the recent development of a mycobacterial recombineering system based on mycobacteriophage Che9c-encoded proteins offers new approaches to mycobacterial mutagenesis. Expression of the phage exonuclease and recombinase substantially enhances recombination frequencies in both fast- and slow-growing mycobacteria, thereby facilitating construction of both gene knockout and point mutants; it also provides a simple and efficient method for constructing mycobacteriophage mutants. Exploitation of host-specific phages thus provides a general strategy for recombineering and mutagenesis in genetically naive systems.     

Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public

Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other countries. This underperformance is true for genetics, as well as for science and math in general, and is particularly worrisome given the accelerating need for scientists and engineers in our increasingly technology-driven economy. A scientifically literate public is essential if citizens are to engage effectively with policymakers on issues of scientific importance. Perhaps nowhere is this conjunction more personally meaningful than in human genetics and medicine. Rapid changes in our field have the potential to revolutionize healthcare, but the public is ill prepared to participate in this transformation. One potential solution is to modernize the genetics curriculum so that it matches the science of the 21^st century. This paper highlights changes in human genetics that support a curricular reorganization, outlines the problems with current genetics instruction, and proposes a new genetics curriculum.     

Determinants of electrical properties in developing neurons

The regulatory mechanisms that orchestrate the developmental acquisition of electrical properties in embryonic neurons are poorly understood. Progress in this important area is dependent on the availability of preparations that allow electrophysiology to be married with genetics. The powerful genetics of the fruitfly Drosophila melanogaster has long been exploited to describe fundamental mechanisms associated with structural neuronal development (i.e. axon guidance). It has not, however, been fully employed to study the final stages of embryonic neural development and in particular the acquisition of electrical activity. This review focuses on the recent development of a Drosophila preparation that allows central neurons to be accessed by patch electrodes at both embryonic and larval stages. This preparation, which allows electrophysiology to be coupled with genetics, offers the prospect of making significant advances in our understanding of functional neuron development.