Genetic disorders - Better Health Channel.
A genetic disorder is caused by an altered set of genes. The four broad groups of genetic disorders include single gene disorders, chromosome abnormalities, mitochondrial disorders and multifactorial disorders. Genes are the instructions for the ... [... more]
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Genes and genetics - inheritance
The 30,000 or so genes that make up an individual come in pairs. Out of each pair, one gene is inherited from the mother and the other from the father. Traits or distinguishing characteristics are passed on from parents to their children through ... [... more]
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Huntington's disease - genetics
Huntington's disease (HD) is a neurological condition caused by the inheritance of a faulty gene that interferes with the functioning of the protein huntingtin inside brain cells. The disease isn't apparent at birth and symptoms first tend to ... [... more]
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Cholesterol - genetic factors
Familial hypercholesterolaemia is an inherited condition characterised by higher than normal levels of blood cholesterol. Treatment includes changes to diet, regular exercise, avoiding smoking, and the use of cholesterol-lowering ... [... more]
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Genes and genetics - related parents
A relationship between related people is called consanguinity. Related parents are more likely than unrelated parents to have children with health problems or disorders, although the risk for the children of first cousins is still quite low. The ... [... more]
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Tay-Sachs disease
Tay-Sachs disease (TSD) is an inherited (genetic) condition common in Jews and French-Canadians. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually by the age of ... [... more]
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Down syndrome explained
People with Down syndrome have an extra chromosome in their genetic makeup. They also have common physical characteristics, including reduced intelligence and eyes with an upward and outward slant. There is no cure but people with Down syndrome ... [... more]
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Tuberous sclerosis complex (TSC)
Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity. Its common characteristic is the formation of tuber-like growths in the brain. There is no cure. Tuberous sclerosis is a genetic ... [... more]
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Kabuki syndrome
Kabuki syndrome is a rare genetic disorder with a range of characteristics including intellectual disability, distinctive facial features and skeletal abnormalities. There is no cure. Kabuki syndrome is a rare genetic disorder with a range of ... [... more]
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Cystic fibrosis - Better Health Channel.
Cystic fibrosis (CF) is the most common, life threatening genetic disorder in Australia. It severely affects the lungs and digestive system. There is currently no cure; however, with improved medication and treatment to manage symptoms, life ... [... more]
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Genetic testing for inherited cancer
A predisposition to certain cancers can be inherited via altered genes. Genetic testing aims to detect a genetic alteration that might increase the chances of a person developing a particular cancer. This testing is available to some families ... [... more]
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Genetic services in Victoria
Genetic services in Victoria cover diagnosis, screening and testing, counselling, education, clinical research, and the ongoing management of individuals and families with particular birth defects and genetic disorders. Knowledge of genetics is ... [... more]
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