What is Clinical genetics?
Clinical genetics is the specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. It will evolve to support gene therapy. Genetic disorders can affect any body system and any age group. The aim of genetic services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. Genetic disorders include :
- Chromosomal abnormalities, which cause birth defects, mental retardation and/or reproductive problems.
- Single gene disorders such as cystic fibrosis, muscular dystrophy, Huntington's disease and sickle cell disease.
- Familial cancer and cancer-prone syndromes such as inherited breast or colorectal cancer and neurofibromatosis.
In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programmes also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk.
Take a look at http://www.clingensoc.org for more details.
Genetics Search Facilities
- NCBI - for Mozilla browsers
- NLM Genetics Home Reference
- GenePool the Clinical Genetics specialist library from the National Library for Health
- NIH-funded web-site
- ↑ Sturtevant, A. H. The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association. Journal of Experimental Zoology 14, 43–59 (1913) doi:10.1002/jez.1400140104.
- ↑ Stern C. Somatic crossing over and segregation in Drosophila melanogaster. Genetics. 1936;21:625–730
- ↑ Beadle GW, Tatum EL. Genetic Control of Biochemical Reactions in Neurospora. Proceedings of the National Academy of Sciences of the United States of America. 1941 Nov 15; 27(11):499-506.
- ↑ WATSON JD, CRICK FH. The structure of DNA. Cold Spring Harbor symposia on quantitative biology. 1953; 18:123-31.
- ↑ Meselson M, Stahl FW. THE REPLICATION OF DNA IN ESCHERICHIA COLI. Proceedings of the National Academy of Sciences of the United States of America. 1958 Jul 15; 44(7):671-82.
- ↑ NIRENBERG MW, MATTHAEI JH. The dependence of cell-free protein synthesis in E. coli upon naturally occurring or synthetic polyribonucleotides. Proceedings of the National Academy of Sciences of the United States of America. 1961 Oct 15; 47:1588-602.
- ↑ Wu R, Kaiser AD. Structure and base sequence in the cohesive ends of bacteriophage lambda DNA. Journal of molecular biology. 1968 Aug 14; 35(3):523-37.
- ↑ Maxam AM, Gilbert W. A new method for sequencing DNA. Proceedings of the National Academy of Sciences of the United States of America. 1977 Feb; 74(2):560-4.
- ↑ Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proceedings of the National Academy of Sciences of the United States of America. 1977 Dec; 74(12):5463-7.
- ↑ The ADA human gene therapy clinical protocol. Human gene therapy. 1990 ; 1(3):327-362.(Print)
- ↑ Blaese RM, Culver KW, Chang L, Anderson WF, Mullen C, Nienhuis A, Carter C, Dunbar C, Leitman S, Berger M. Treatment of severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency with CD34+ selected autologous peripheral blood cells transduced with a human ADA gene. Amendment to clinical research project, Project 90-C-195, January 10, 1992. Human gene therapy. 1993 Aug; 4(4):521-527.(Print) (Link to article – subscription may be required.)
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This category has the following 6 subcategories, out of 16 total.
- Category:A list of human genes
- Category:A list of human oncogenes
- Category:A list of human regulatory genes
- Category:Antisense oligonucleotides
Pages in category "Clinical genetics"
The following 194 pages are in this category, out of 999 total.