Human genetics
The Human Genetics is a branch of genetics , specifically with the genetic makeup of people busy. As an interdisciplinary science , it combines medical diagnostics , therapy and prevention of hereditary diseases with molecular biological methodology and research on the orthology and pathology of human inheritance.
The term human genetics was mainly introduced by the hereditary biologist Günther Just before "human genetics" became established in the USA after the American Society of Human Genetics was founded in 1948 .
Classification of human genetic methodology
- Cytogenetics : Examination of human chromosomes using fluorescence microscopy . One tries to find peculiarities in chromosome sets and to assign certain clinical pictures , syndromes or cancerous tumors . Example: karyogram
- Molecular human genetics: the study of individual genes or sections of DNA . Example: mutation analysis by genetic testing
Human genetics include research into hereditary diseases and the preparation of parentage reports as well as human genetic advice .
After the human genome in the Human Genome Project was largely decoded, it is now mainly about the functions of individual genes and their interaction in the context of proteomics to explore. Overall, the human genome contains around 20,000 to 25,000 genes.
Medical genetics
The Medical Genetics (referred to in the media and medical genetics) is the part of the field of human genetics, which deals with the diagnosis and treatment of hereditary diseases busy. It was created in the post-war period. Victor McKusick (1921–2008) is considered to be the founder . His work Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders from 1966 and reissued since then is one of the standard works of medical genetics.
Medical specializations
Switzerland
The association of Swiss doctors meets the following definition in the advanced training program for the "Specialist in Medical Genetics" from January 1, 1999 as of 2011:
- “Medical genetics is the area of human genetics that deals with the effects of human genetic variation on health and disease. It includes the detection of genetically determined, i.e. H. chromosomal, monogenic, multifactorial, mitochondrial diseases or the underlying predispositions, their pre- and postnatal (including presymptomatic) diagnosis and classification using genealogical, clinical, biochemical, molecular genetic and / or cytogenetic examination methods. This also includes the differential diagnosis of non-genetic diseases. "
Austria
In Austria , the title “Specialist for Medical Genetics” was introduced with the Medical Training Regulations on January 1, 2007, in order to enable the “Euro-compliant area designation for specialists in the field of human genetics”. The "Specialist in Medical Biology" has been renamed accordingly. The regulation uses the following definition:
- “The specialty medical genetics includes the diagnosis of genetically determined diseases, the determination of the disease risk, genetic counseling for patients and their families, as well as subject-specific basic research and applied research, in particular through the use of cytogenetic, biochemical and molecular genetic methods and the application of knowledge the course and the laws of biological functions in humans, the etiology and pathogenesis of hereditary and hereditary diseases, general human genetics, cytogenetics, molecular genetics, dysmorphology, clinical genetics including syndromology, population genetics and genetic epidemiology. "
Germany
In Germany , the "specialist in human genetics" is decisive. The advanced training regulations of the state medical associations in Germany initially contained the following definition for the "specialist in medical genetics":
- "Medical genetics includes clinical diagnostics and differential diagnostics of genetically determined diseases, taking into account laboratory diagnostic possibilities as well as risk assessment and genetic counseling for patients and their families."
According to the definition of the German medical associations, the following definition currently applies from a medical point of view:
- "The field of human genetics encompasses the education, detection and treatment of genetic diseases, including genetic counseling of patients and their families as well as doctors working in health care."
Job titles in the European Union
There are the following specializations in medical genetics by country:
country | designation |
---|---|
Czech Republic | Lékařská genetika |
Denmark | Clinical genetics |
Germany | Human genetics |
Estonia | Meditinigenetics |
Greece | - |
Spain | - |
France | Génétique médicale |
Ireland | Clinical genetics |
Italy | Genetica medica |
Cyprus | - |
Latvia | Medicīnas ģenētika |
Lithuania | Genetics |
Luxembourg | Médecine génétique |
Hungary | Clinical genetics |
Malta | - |
Netherlands | Clinical genetica |
Austria | Medical genetics |
Poland | Genetyka kliniczna |
Portugal | Genética médica |
Romania | Genetica medicala |
Slovenia | Klinična genetika |
Slovakia | Lekárska genetica |
Finland | Perinnöllisyyslaäketiede / Medicinsk genetics |
Sweden | - |
United Kingdom | Clinical genetics |
Associations and publications
The professional association for medical genetics in Germany was established in 1983 and merged with the German Society for Human Genetics (GfH) at the end of 2003 . In Germany, the Professional Association of German Human Genetics (BVDH) is the professional policy forum for all specialists in human genetics and human geneticists, in Switzerland the Swiss Society for Medical Genetics (SGMG) and in Austria the Austrian Society for Human Genetics (ÖGH). The joint publication of all four associations is the journal medical genetics .
The Network of Specialists in Medicine (nfm) represents the interests of the natural scientists working in medicine with different specializations such as human geneticists (GfH), clinical chemists and reproductive biologists.
The British Medical Association publishes the Journal of Medical Genetics .
Librarianship
In the basic classification (used in the Netherlands and in the joint library network ), the medical basic subject "Medical Genetics" has class 44.48.
See also
literature
- Tom Strachan, Andrew P. Read: Molecular Human Genetics. 3. Edition. Spektrum Akademischer Verlag, Heidelberg 2005, ISBN 3-8274-1493-8 .
- Jürgen Gerhards, Mike S. Schäfer: The creation of a public hegemony. Human genome research in the German and US press. Vs Verlag, Wiesbaden 2006, ISBN 3-531-14964-4 .
- Wolfram Henn: Why women are not weak, black people are not stupid and the disabled are not poor - the myth of the good genes. 2nd Edition. Herder, Freiburg 2004, ISBN 3-451-05479-5 .
- Hans-Albrecht Freye : Human genetics: an introduction to the human genetics. 6th edition. Gustav Fischer, Stuttgart 1990, ISBN 3-437-00605-3 .
- Peter Propping : On the meaning and goal of human genetics. In: L. Honnefelder , C. Streffer (Ed.): Yearbook for Science and Ethics. Volume 6, 2001, pp. 89-106.
- Peter Propping , Stefan Aretz, Johannes Schumacher, Jochen Taupitz , Jens Guttmann, Bert Heinrichs: Predictive genetic test procedures: Scientific, legal and ethical aspects. Status reports of the DRZE. Volume 2, (PDF; 245 kB). Verlag Karl Alber, Freiburg 2006, ISBN 3-495-48194-X .
- Richard Fuchs: Life Science. A chronology from the beginnings of eugenics to the present day human genetics. LIT Verlag, Münster 2008, ISBN 978-3-8258-0166-3 .
- Eberhard Passarge: Pocket Atlas of Human Genetics. Color plate by Jürgen Wirth. Thieme, Stuttgart / New York 2008, ISBN 978-3-13-759503-8 .
- Hans-Peter Kröner: Human Genetics. In: Werner E. Gerabek, Bernhard D. Haage, Gundolf Keil, Wolfgang Wegner (eds.): Enzyklopädie Medizingeschichte . De Gruyter, Berlin 2005, ISBN 3-11-015714-4 , pp. 635-641.
Web links
- Introduction to Family Tree Analysis
- German version of "DNA from the Beginning" by the Dolan DNA Learning Center
Individual evidence
- ↑ Hans-Peter Kröner: Human Genetics. In: Werner E. Gerabek , Bernhard D. Haage, Gundolf Keil , Wolfgang Wegner (eds.): Enzyklopädie Medizingeschichte. de Gruyter, Berlin / New York 2005, ISBN 3-11-015714-4 , pp. 635-641; here: p. 635.
- ↑ Ute Felbor: The Institute for Hereditary Science and Race Research at the University of Würzburg 1937–1945. In: Würzburg medical history reports. Volume 11, 1993, pp. 155-173, here: p. 156.
- ↑ Hans-Peter Kröner: Human Genetics. 2005, p. 635 f.
- ↑ National Genome Research Network , dump of August 28, 2012: When the world pulls together: The Human Genome Project (HGP).
- ↑ Founder of medical genetics died. In: Spiegel Online . July 24, 2008.
- ^ Geneticists Mourn Loss of the Father of Genetic Medicine. 2008 ( Geneticists Mourn Loss of the 'Father of Genetic Medicine' - The American Society of Human Genetics Mourns the Death of Past President and Legendary Society Member, Dr. Victor A. McKusick ( Memento from August 28, 2008 in the Internet Archive ))
- ↑ Further training program from January 1, 1999. Central Board of the Association of Swiss Doctors (FMH), January 1, 1999, accredited by the Federal Department of Home Affairs , September 1, 2011 ( Specialist in Medical Genetics Training Program from January 1, 1999 (last Revision: September 6, 2007) ( Memento of May 24, 2012 in the Internet Archive ))
- ↑ Medical training regulations (ÄAO), Austria, 2006 (online)
- ↑ Further training regulations for doctors in Bavaria in the new version of October 1, 1993 in the version of October 13, 2002 (online)
- ↑ Further training regulations of the Berlin Medical Association , 2006 ( online ( memento of February 11, 2015 in the Internet Archive ); PDF; 854 kB)
- ↑ Berlin Medical Association, 2011 ( online ( memento from February 11, 2015 in the Internet Archive ); PDF; 854 kB)
- ↑ Regulation (EU) No. 213/2011 of the Commission of March 3, 2011 amending Annexes II and V of Directive 2005/36 / EC of the European Parliament and of the Council on the recognition of professional qualifications . In: Official Journal of the European Union . L 59, March 4, 2011, p. 4, see system for the recognition of professional qualifications
- ^ Network of specialists in medicine.
- ↑ Information from the GBV: 44.30 to 44.52 (basic medical subjects)