Genes and disease
Quick guides to some of the most common single-gene diseases, chromosome disorders and polygenic diseases that affect humans. |
Colorectal cancer
Colorectal cancer is the third commonest cancer in the UK, only exceeded by lung and breast cancer. 25/03/06
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Familial adenomatous polyposis
Familial adenomatous polyposis is an inherited cancer syndrome which predisposes patients to early-onset colorectal cancer, amongst other cancers. 24/03/06
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Hereditary non-polyposis colorectal cancer
Hereditary non-polyposis colorectal cancer is the commonest inherited syndrome that predisposes sufferers to early-onset colorectal cancer, but is still rare. 24/03/06
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Duchenne and Becker muscular dystrophy
Duchenne and Becker muscular dystrophy are two inherited muscle-wasting diseases caused by mutations in the same gene on the X-chromosome. 09/03/05
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Huntington's disease
A progressive neurodegenerative disorder that usually strikes in middle to late adult life. 27/01/05
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Haemophilia A and B
Disorders of blood clotting caused by mutations in one of two closely linked genes on the X chromosome. 14/12/04
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Fragile-X syndrome
The commonest form of inherited mental retardation. 22/09/04
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Achondroplasia
An inherited disorder of bone development that results in short-limb dwarfism. 02/08/04
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Diabetes: Quick facts
The burden of disease in the UK, USA and worldwide. 13/07/04
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Introduction to Alzheimer's disease
A degenerative disease that slowly and progressively destroys brain cells. 22/06/04
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Down's syndrome
A disorder caused by an extra copy of chromsome 21. 15/06/04
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Introduction to diabetes
Diabetes is a condition in which the body does not produce or respond to insulin, a hormone that regulates the level of sugar in the blood. 01/03/04
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Hereditary haemochromatosis
An inherited disorder in which the body accumulates too much iron. 05/11/03
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Cystic fibrosis
A common inherited disorder that leads to breathing difficulties, chronic respiratory infections and problems with digestion. 30/07/03
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Chromosome abnormalities
Chromosome abnormalities involve the gain, loss or rearrangement of visible amounts of genetic material. 24/06/03
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Imprinting disorders
Some mutations have different effects depending on the parent from which they are inherited. 24/06/03
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Polygenic and multifactorial diseases
Many diseases run in families but do not show the simple inheritance patterns of single gene disorders, suggesting several or many genes as well as environmental factors may be involved. 24/06/03
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Dominant diseases
Dominant diseases are single gene disorders that occur when there is only one defective copy of the relevant gene. 16/04/03
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Recessive diseases
Recessive diseases are single gene disorders that require the presence of two disease-causing alleles. 16/04/03
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Single gene disorders
Single gene disorders are caused by defects in one particular gene, and often have simple and predictable inheritance patterns. 16/04/03
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X-linked diseases
Single gene disorders caused by defective genes on the X chromosome. 16/04/03
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Cancer as a genetic disease
The transition from a normal cell to a malignant cancer is driven by changes to the cell's DNA. 08/06/00
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Mutations that can cause disease
Several different types of changes can occur to a gene, potentially leading to disease. 08/06/00
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Types of gene involved in cancer
Mutations in several different types of genes are involved in cancer. Some of these genes control growth, or stop excessive growth, while others control a cell's blood supply or its position in the body. 08/06/00
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