For an explanation, see the main splats page
SPLATS about genetic disease and gene therapy
The principles of genetic disease and gene therapy
- In 1908, Archibald Garrod proposed that some human diseases were due to 'inborn errors of metabolism' that result from the lack of a specific enzyme.
- Some genetic diseases are caused by the genes we inherit, including haemophilia, phenylketonuria, thalassemia, Huntington's chorea, and some forms of cancer.
- Diseases can be caused by mutated genes: including are haemophilia, cystic fibrosis and phenylketonuria. Other genes increase the probability of disease.
- Disease can be caused by genes that leave people predisposed to get some conditions such as cancers, or diabetes. Many of these are not well understood.
- Radiation effects, including ultraviolet radiation from the sun, can cause disease, generally because the radiation causes mutations, chemical changes in DNA.
- The theory of eugenics is that some genes are always better than others, and that 'worse' genes should be eliminated. This is foolish and lacking in science.
- A form of transmission called sex linkage happens when genes are carried on the sex chromosome. Such conditions are often more common in one sex than the other.
- Because the genes for colour vision are carried on the X-chromosome, colour blindness is found more often in male humans than in females, who act as carriers.
- Anomalous deuteranopes, the people we call 'colour' blind, lack one of the three kinds of cone cell in the retina, usually the ones that detect red light.
- The peculiar pattern of sex-linked inheritance of human blindness-blindness was first reported to The Royal Society of London by the Reverend Michael Lort in 1779.
- The inheritance laws for sex-linked traits like blindness-blindness were fully formulated in 1820 by Christian Friedrich Nasse, using haemophilia as his example.
- Haemophilia and colour blindness are two well-known conditions showing sex linkage in their patterns of inheritance, and there are other rarer examples.
- In 1983, James Gusella used blood samples collected by Nancy Wexler and her co-workers in Venezuela to locate the Huntington's chorea gene on chromosome 4.
- Genetic manipulation may lead to future effective gene therapies, although it is still less than perfect as a solution, and so only used now in extreme cases.
- In 1959, LeJeune, Gautier and Turpin found an extra chromosome in the nuclei of cells from children with Down syndrome, later identified as chromosome 21.
- Recent attempts at gene therapy have only been used on desperately ill patients, in several cases, patients have died from unexpected complications.
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