Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetics, Medical”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1995

[Current trends in medical genetics].

Medical genetics made during the last decades immense advances and new findings from the sphere of fundamental research are increasingly penetrating into different clinical disciplines. The greatest attention was concentrated on investigations devoted to the molecular etiology of malignant diseases and the molecular mechanism of embryonic development. Mapping of the human genome is the prerequisite for identification of serious diseases at the gene level. Control of these problems opens possibilities of aimed diagnostics at the molecular level during the postnatal period and as well as the prenatal one. So far we possess knowledge required for genetic counselling and possible prevention. With the extension of our knowledge on gene mechanisms we find that originally apparently clear mechanisms of heredity are much more complicated. In the last three years also the possibility arose of gene therapy of some malignomas and other pathological conditions of the organism. Hitherto assembled experience is relatively optimistic although a major development of these techniques is foreseen only at the end of this millenium. Medical genetics advanced greatly in the prenatal diagnosis of inborn developmental and hereditary foetal diseases. Gradually different screening programmes were introduced to evaluate the status of the foetus in utero. At present also predictive tests are available for some serious diseases. All these methods and technologies are associated with many ethical, moral and psychosocial problems which must be gradually resolved.

Chromosome Mapping↗
PubMed2005

Ideas about heredity, genetics, and 'medical genetics' in Britain, 1900-1982.

The aim of this paper is to understand how evolving ideas about heredity and genetics influenced new medical interests and practices and, eventually, the formation of 'medical genetics' as a medical specialism in Britain. I begin the paper by highlighting the social and institutional changes through which these ideas passed. I argue that, with time, there was a decisive convergence in thought that combined ideas about the familial aspects of heredity and the health needs of populations with an omnibus 'genetic' approach to health and illness that focused on the structures and activities of chromosomes and genes in individuals. I show how this convergence in thought was spurred on, first, by innovations in genetic science and technology in the years after 1960, and, second, by negotiated protocols and standards of medical practice worked out by bodies such as the relevant royal colleges, the linked associations and societies for medical professionals, affected training and research authorities, and the state. The notion of 'medical genetics' in Britain consequently gained a semblance of unanimity over its basic reference points and arrived at a meaning directly tributary to current acceptance of the term in the context of a medical specialism.

Eugenics↗
PubMed2004

[Integrated population genetic and medical genetic study of two raions of the Tver oblast].

An integrated medical genetic an population genetic study has been performed in two raions (administrative districts) of the Tver oblast (region) of Russia: the Udomlya raion located in the zone affected by the Kalininskaya Nuclear Power Plant and the Ostashkov raion, which served as a control district. No significant differences has been found with respect to the genetic parameters studied. The values of these parameters in the populations of the town of Udomlya, the town of Ostashkov, the Udomlya raion, and the Ostashkov raion, respectively, are the following: random inbreeding, 0.00006, 0.00011, 0.000167, and 0.000366; endogamy index, 0.05, 0.43, 0.30, and 0.42; local inbreeding, 0.0003, 0.00045, 0.0009, and 0.0011; the degree of isolation by distance, 0.0003, 0.00045, 0.0009, and 0.0005; sigma, 2098, 1338, 1473, and 1189; the load of autosomal dominant (AD) diseases, 0.71, 0.92, 0.92, and 1.37; the load of autosomal recessive (AR) diseases, 0.68, 0.69, 0.67, and 0.82; and the load of X-linked diseases, 0.18, 0.64, 0.83, and 0.27.

Consanguinity↗
PubMed1993

Medical genetics--genes and GPs for the 1990s.

DNA manipulation techniques have allowed the isolation and identification of many genes which cause disease in man. The same techniques are now being automated, and are on the threshold of application to more common and more complex genetic predispositions to diseases such as diabetes and schizophrenia. This article outlines the technology behind this development, and discusses some of the social, legal and ethical difficulties that widespread screening for genetic traits will raise. It is argued that these issues must be considered now, so that considered social responses to this technology are in place in the five years it is likely to take to develop. The techniques of DNA manipulation that have led to recombinant proteins and biopharmaceuticals have also led to an unprecedented increase in understanding of human genetics, and a corresponding increase in the practical side of human genetics--medical genetic diagnosis. As a result, medical genetics is moving from a specialty of statisticians and cytologists into the mainstream of medicine, and will soon be the concern of every hospital, and probably of every GP. This offers huge benefits to patients, but also threatens misunderstanding and even the potential of abuse if this sophisticated understanding of our fundamental natures is used without precision.

DNA↗
PubMed2004

A history of medical genetics in pediatrics.

Medical genetics emerged from a basic science only one half century ago. Scientists and physicians housed in a variety of basic science and clinical departments have accomplished many of the major advances in the study of genetic diseases in children. A scientific approach to human genetics emerged in 1948 with the establishment of the American Society of Human Genetics. Even before the use of modern laboratory techniques, Pediatric departments spearheaded the clinical description of simple genetic disorders, syndromes, and major malformations. The burgeoning of medical genetics as a specialty and its tremendous growth in departments of pediatrics was stimulated by major technological advances, such as the ability to visualize human chromosomes, the development of methods to study biochemical variations in blood and urine, cell culture, somatic cell hybridization, and molecular technology, all of which allowed for the diagnosis, treatment, and prevention of genetic disorders in children. Many pediatricians sought training in genetics, and training programs in medical genetics flourished in departments of pediatrics. The explosion of knowledge concerning the metabolic and molecular causes of genetic disease and understanding of their pathogenesis has led to a variety of specific diagnostic, preventive, and therapeutic approaches for alleviating the symptoms or preventing the complications of many of these disorders. Medical genetics is now recognized as a distinct medical specialty with its own American Board of Medical Specialties approved board (American Board of Medical Genetics) and clinical specialty college (American College of Medical Genetics).

Child↗
PubMed2006

On the origin of genetics and beginnings of medical genetics of diseases of the kidney.

The twentieth century has been termed the century of the gene. Although the term "gene" was introduced in 1909, interest in reproduction and heredity has occupied humankind since its transition from hunter-gatherers to farmers and herders. Heredity, as it applies to diseases, began with Greek medicine. The humoral theory of the Hippocratic Corpus provided an etiological explanation for susceptibility of individuals to certain diseases well into the nineteenth century and was variously termed diathesis, temperament, and constitution. The application of the new probability math to quantify the hybridization of sweet peas by Gregor Mendel (1822-1884) in 1866 provided a scientific basis to inheritance, which had theretofore been an amalgam of scattered empirical observations. The near simultaneous publication of Origin of Species by Charles Darwin (1809-1882) in 1859 was a key catalyst in the transfer of what had been studies in plant biology into studies of populations and humans. The subsequent growth of genetics has been the outcome of interplay of technological breakthroughs in statistical analysis, cytology, biochemistry, physics, and computer science, coupled with the insightful analysis of workers in the field, several of whom have been the recipients of the Nobel Prize in medicine or chemistry since 1933. Application of these techniques to molecular biology and medical genetics is just beginning to yield insight into diseases of the kidney and provide visions of their likely therapies in the future.

Genetics, Medical↗
PubMed1989

Innovations in human genetics education. Alternative methods of instruction in medical genetics.

A course in medical genetics for first-year medical students was developed with the use of alternative methods of instruction, including audiovisual materials and computer-assisted instruction. The use of this methodology enabled students to consider many significant areas of medical genetics, without a dependency on the traditional lecture-based instructional format. Seventy-eight percent of the students identified the alternative instructional methods as an enhancement to their education. These students performed a mean of 6% better on class examinations.

Curriculum↗