Medical Genetics to Genetic Medicine in the last 50 years - 2005
| Author: | V.A. McKusick |
|---|---|
| Submitted: | Wednesday 9th of September 2009 09:25:54 AM |
| Submitted by: | egf |
| Language: | English |
| Content type: | Learning resource |
| Educational levels: | expert, qc1, qc2, qc3, a-level, gcse |
Contents
Topics
- Genetics + genomics
- Clinical/medical genetics
- Clinical/medical genetics > Disease related (typology of disorder)
- Clinical/medical genetics > Disease related (typology of disorder) > Single gene disorders
- Clinical/medical genetics > Disease related (typology of disorder) > Multifactorial conditions
- Clinical/medical genetics > Disease related (typology of disorder) > Multifactorial conditions > Gene interaction
- Clinical/medical genetics > Disease related (typology of disorder) > Multifactorial conditions > Environment interaction
- Clinical/medical genetics > Patient related
- Clinical/medical genetics > Patient related > Population related
- Clinical/medical genetics > Patient related > Population related > Screening
- Clinical/medical genetics > Patient related > Patient/family related
- Clinical/medical genetics > Patient related > Patient/family related > Patient management
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Diagnosis of patient disease
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Diagnosis of patient disease > Laboratory investigation
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Diagnosis of patient disease > Laboratory investigation > Molecular (laboratory investigation)
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Diagnosis of patient disease > Clinical investigation
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Diagnosis of patient disease > Clinical investigation > Structural (clinical investigation)
- Clinical/medical genetics > Patient related > Patient/family related > Patient management
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Treatment
- Clinical/medical genetics > Patient related > Patient/family related > Patient management > Prevention
- Molecular genetics
- Molecular genetics > Studies of DNA
- Molecular genetics > Studies of DNA > Gene expression
- Molecular genetics > Studies of DNA > Studies of DNA (as a sequence)
- Molecular genetics > Studies of DNA > Studies of DNA (as a sequence) > Disease-associated alterations (mutation/deletion/duplication/insertion)
- Molecular genetics > Studies of DNA > Studies of DNA (as a sequence) > Molecular epigenetics
- Molecular genetics > Studies of DNA > Studies of DNA (as a sequence) > Disease-associated alterations (mutation/deletion/duplication/insertion) > Molecular epigenetics (disease associated alterations)
- Statistical genetics > Mathematical models used in statistical genetics > Formal genetics > Mendelian laws
Abstract
Medical genetics went from its beginnings in the 1950s to a full-fledged clinical specialty with board certification or its equivalent in many countries by the 1990s. Advances in the underlying science and technology created the need for properly qualified personnel. Also in the last 50 years, description of the anatomy of the human genome, by “chromosomology” beginning in 1956, gene mapping beginning (for the autosomes) in 1968, and DNA sequencing “completed” in 2003 has given us a neo-Vesalian basis for all of medicine. Because of the important implications of the “new genetics” and genomics for all branches of medicine, the terms genetic medicine, genomic medicine, or molecular medicine are fully justified. With this neo-Vesalian basis, medicine is becoming more predictive and preventive, but at the same time diagnosis and treatment, the traditional turf of clinical medicine, are greatly enhanced. Diagnosis is more specific and sensitive. Treatment is more specific and therefore more efficacious, and is safer not only because of its greater specificity but also because of the recognition of individual genetic susceptibility to adverse drug effects. Progress in the understanding of single gene disorders will be reviewed: “syndromology and dysmorphology meet molecular genetics.” The usefulness of such work for understanding basic mechanisms of biology and disease is noteworthy. And progress in elucidating the genetic/genomic basis of common disorders (formerly “multifactorial traits,” now “complex traits”) will be reviewed.Download
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Citation
V.A. McKusick. Medical Genetics to Genetic Medicine in the last 50 years - 2005. EUROGENE portal. September 2009. online: http://eurogene.open.ac.uk/content/medical-genetics-genetic-medicine-last-50-years-2005
Keywords
allele-specific oligonucleotide testing, alternative splicing, Analysis of the entire coding region: Sequence analysis, autoradiography, autosomal dominant, autosomal recessive, autosome, candidate gene, carrier, cell, chromosome, clinical genetics, clone, common disease, congenital, correlation, cytogenetics, deoxyribonucleic acid, dominant, double helix, dysmorphology, egg, familial, functional genomics, gene, gene locus, genetic code, genetic disease, genetic heterogeneity, genetic mapping, genetics, genome, genomics, heredity, human genome project, hybridization, in situ hybridization, inherited, linkage, marker, maturity onset diabetes of the young, meiosis, mendelian inheritance, messenger rna, metabolism, mitosis, molecular genetics, multifactorial, mutant, mutation, non-syndromic, oligonucleotide, phenotype, point mutation, polymerase, polymerase chain reaction, positional cloning, power, probe, processing, protein, proteomics, quantitative, sequence, somatic cell, somatic cell hybrid, somatic mutation, Southern blot, sperm, syndrome, trait, variation, virusUMLS keywords
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