Genetics In Medical Practice Research Articles

Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?

Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.

Metabolic Disorders in the Center of Genetic Medicine

Genetics is the new frontier of medicine. Hardly an issue of any leading medical journal is published without one or more articles on a genetic disease or a topic closely related to genetics. A recent series of articles in the Journal was devoted to the importance of genetics in medical practice.1 The immediate impetus for such a series was, as is widely known, the sequencing of the human genome and the promise that that effort would lead to better diagnosis and treatment of disease.2 However, the knowledge that many metabolic disorders are genetic has long been seen as evidence, with . . .

Genetics in medical practice

Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for integration into medical practice. This article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years. The author classifies the genetic contribution to medical practice into three categories: monogenic or chromosomal disorders, more common disorders due to a monogenic or single gene mutation, and common multifactorial disorders in which the interaction of multiple genes and the environment contribute to the cause of the condition. The author discusses the positives and the potential pitfalls facing primary care physicians and specialists as they incorporate medical genetics into their practices and points out some of the anticipated changes medical genetics will necessitate, such as an increased medical genetics workforce, including geneticists and genetic counselors. The Human Genome Project has made information of inestimable diagnostic and therapeutic importance available. The medical profession now must rise to both the opportunities and challenges that this wealth of information presents.

Geneticization: the Cyprus paradigm.

Geneticization is a broad term referring to several related processes such as a spreading tendency to use a genetic model of disease explanation, a growing influence of genetics in medical practice, and the slow changing of individual and societal attitudes towards reproduction, prevention and control of disease. These processes can be demonstrated in medical literature on preventive genetic screening and counselling programs for beta-thalassaemia in Cyprus, the United Kingdom and Canada. The preventive possibilities of the new genetic and diagnostic technologies have been quickly understood and advocated by health professionals, and their educational strategies have created a web of social control, in marked contrast to the alleged voluntary decision-making process and free choice. Genetic diagnostic technologies have led to considerable changes in control and management of beta-thalassaemia, and have generated a number of unresolved incongruities.

Genetic Screening: Programs, Principles, and Research

In this ambitious book, a 16-member multidisciplinary committee surveys issues generated by the growing number of genetic screening programs in the United States. The group wished to demonstrate how and under what circumstances such programs can meaningfully become integrated into medical care. If nothing else, reading it will awaken the general practitioner to the need to take genetics seriously. The data show a lamentable degree of understanding of the proper place of genetics in medical practice. Only 29% of the family practitioners surveyed believe that a total cessation of treatment for genetic disorders would have an extremely serious impact on affected children and the families. Similarly, only 20% believe that screening for PKU has proved beneficial, while 15% are fully convinced that carrying the sickle cell trait frequently causes medical problems! Some of these statistics become credible in light of the report that only slightly more than half of all

Medical Genetics Genetics in Medical Practice M. Bartalos

Medical Genetics Genetics in Medical Practice, edited by Bartalos M., J. B. Lippincott & Co., Philadelphia, Pa., 1968, 244 p., illus., $10.75 (68–26654) Howard J. Teas Howard J. Teas University of Miami, Coral Gables, Fla. Search for other works by this author on: Oxford Academic Google Scholar BioScience, Volume 19, Issue 12, December 1969, Page 1125, https://doi.org/10.2307/1294879 Published: 01 December 1969

Genetics in Medical Practice.

This small and handy volume resulted from a seminar held at Howard University College of Medicine in January 1967. It was published for physicians who have not had formal training in medical genetics. In its brief chapters they can find information about principles of basic and medical genetics, chemical and chromosomal disturbances, and congenital malformations. This is followed by explanations of cytogenetic and chemical techniques used in the diagnosis of hereditary disorders. There are special chapters dealing with selected hereditary cardiac disorders, tumors, mental retardation, intersexuality, short stature, susceptibility to drug action, and spontaneous abortion. Also there is a rather sound chapter on genetic counseling with seven tables of risk figures and one table of hereditary conditions in which the heterozygote can be identified. Much useful information is condensed in relatively few pages which are supplemented by references for the reader interested in sources and details. The practicing physician, confronted

Genetics in Medical Practice

Many physicians shy away from genetic counseling; this at least has been my experience on both sides of the Atlantic. Yet, in many instances, the family physician would be the best person to inform his patients, and/or their families, of an existing genetic risk and its magnitude, provided the disease has been accurately diagnosed, is genetically clear, and some rules of genetic counseling are observed. As these conditions frequently cannot be met, the advice of a medical geneticist will still be sought. It is the purpose of this book to provide an understanding of the role medical genetics plays (or can play) in medical practice, aimed at practical help in applying genetic knowledge to it. Little or no previous exposure to medical genetics has been assumed. The text is presented in three parts: (1) basic concepts of genetics in human disease; (2) clinical implementation of genetic principles; and (3) genetic

Genetics in Medical Practice

Back to table of contents Previous article Next article Book ReviewNo AccessGenetics in Medical PracticeWilliam Wolf, M.D.William WolfNew York, N.Y.Search for more papers by this author, M.D.Published Online:30 Apr 2018https://doi.org/10.1176/appi.psychotherapy.1969.23.3.517AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail "Genetics in Medical Practice." American Journal of Psychotherapy, 23(3), pp. 517–518 Access content To read the fulltext, please use one of the options below to sign in or purchase access. Personal login Institutional Login Sign in via OpenAthens Purchase Save for later Item saved, go to cart PPV Articles - APT - American Journal of Psychotherapy $35.00 Add to cart PPV Articles - APT - American Journal of Psychotherapy Checkout Please login/register if you wish to pair your device and check access availability. Not a subscriber? Subscribe Now / Learn More PsychiatryOnline subscription options offer access to the DSM-5 library, books, journals, CME, and patient resources. This all-in-one virtual library provides psychiatrists and mental health professionals with key resources for diagnosis, treatment, research, and professional development. Need more help? PsychiatryOnline Customer Service may be reached by emailing [email protected] or by calling 800-368-5777 (in the U.S.) or 703-907-7322 (outside the U.S.). FiguresReferencesCited byDetailsCited byNone Volume 23Issue 3 1969, pp. 371–568Pages 517-518 Metrics PDF download History Published online 30 April 2018 Published in print 1 July 1969

Genetics in Medical Practice

The publication of this book followed a seminar on Genetics in Medical Practice held during the Centennial Celebration at Howard University. Most of the contributors are authoritative figures in various aspects of clinical genetics and Bartalos has collated their presentations into this small volume. A commendable aspect is the completeness with which the subject of clinical genetics is covered while at the same time avoiding unnecessary complexity. Dr. Bartalos introduces the volume with a broad view of genetic factors in disease. The nature of present-day medical practice requires that the physician understand certain basic principles in genetics. The first part of the book reviews basic concepts of genetics in the etiology of disease. Consideration is given to mendalian inheritance, the biochemical basis of genetics, and phenotypic expression of genetic diseases. The second portion contains brief chapters on cytogenetics, procedures to diagnose genetic disease, and genetic counseling. The subjects reviewed in

Genetics in Medical Practice.

Genetics in Medical Practice.

Genetics in medical practice. 1.

Medical Journal of AustraliaVolume 1, Issue 15 p. 778-780 Brush Up Your Medicine GENETICS IN MEDICAL PRACTICE, 1† C. B. Kerr M.B., D.Phil., C. B. Kerr M.B., D.Phil. Department of Preventive Medicine and Department of Medicine, University of SydneyLecturer in Human Genetics and Honorary Assistant Physician, Royal Prince Alfred Hospital.Search for more papers by this author C. B. Kerr M.B., D.Phil., C. B. Kerr M.B., D.Phil. Department of Preventive Medicine and Department of Medicine, University of SydneyLecturer in Human Genetics and Honorary Assistant Physician, Royal Prince Alfred Hospital.Search for more papers by this author First published: 01 April 1967 https://doi.org/10.5694/j.1326-5377.1967.tb21611.x †Based on a talk given at Sutherland Shire District Hospital, October 4, 1966. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume1, Issue15April 1967Pages 778-780 RelatedInformation

Genetics in medical practice. 2.

Medical Journal of AustraliaVolume 1, Issue 16 p. 828-830 Brush Up Your Medicine GENETICS IN MEDICAL PRACTICE, 2† C. B. Kerr M.B., D.Phil., C. B. Kerr M.B., D.Phil. Department of Preventive Medicine and Department of Medicine, University of SydneyLecturer in Human Genetics and Honorary Assistant Physician, Royal Prince Alfred Hospital.Search for more papers by this author C. B. Kerr M.B., D.Phil., C. B. Kerr M.B., D.Phil. Department of Preventive Medicine and Department of Medicine, University of SydneyLecturer in Human Genetics and Honorary Assistant Physician, Royal Prince Alfred Hospital.Search for more papers by this author First published: 01 April 1967 https://doi.org/10.5694/j.1326-5377.1967.tb21655.x †Based on a talk given at Sutherland Shire District Hospital, October 4, 1966. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume1, Issue16April 1967Pages 828-830 RelatedInformation

Morning session: Genetics in medical practice

Morning session: Genetics in medical practice