Gourt > Regional > Europe > United Kingdom > Health > Conditions and Diseases > Genetic Disorders (2)
A genetic disorder, or genetic disease, is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. Some conditions labelled a disorder may confer an advantage. There are a number of possible causes for genetic defects:
- They may be caused by a mutation in a gene, affecting its function.
- There are genetic disorders caused by the abnormal chromosome number, as in Down syndrome (extra chromosome 21) and Klinefelter's syndrome (a male with 2 X chromosomes).
- Triplet expansion repeat mutations can cause Fragile X syndrome or Huntington's disease, by modification of gene expression or gain of function, respectively.
- Defective genes are often inherited from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.
Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the United States carry at least one copy of the defective gene.
More on [ Genetic disorder ]
Genetic Disorders
Genetics :: Medical Specialties
...resulting in a more shallow gene pool and genetic disorders. Stopping ovulation can lessen the level of attraction women feel toward men.
TrashGoblin (Toby) Sat, 10 Oct 2009 03:59:58 -0000
...resulting in a more shallow gene pool and genetic disorders. Stopping ovulation can lessen the level of attraction women feel toward men.
When Families Affected by Genetic Disorders Meet http://bit.ly/233p8e
janita456 (janita) Sat, 10 Oct 2009 01:30:15 -0000
When Families Affected by Genetic Disorders Meet http://bit.ly/233p8e
RT @ballbearings: One family relates the reality of living with the Fragile X family of genetic disorders : http://bit.ly/GXLyb
paulafasciano (Paula Fasciano) Sat, 10 Oct 2009 01:17:57 -0000
RT @ballbearings: One family relates the reality of living with the Fragile X family of genetic disorders : http://bit.ly/GXLyb
When Families Affected by Genetic Disorders Meet http://bit.ly/233p8e
Daltonella (Dalton) Sat, 10 Oct 2009 00:27:57 -0000
When Families Affected by Genetic Disorders Meet http://bit.ly/233p8e
One family relates the reality of living with the Fragile X family of genetic disorders and their personal growth: http://bit.ly/GXLyb
ballbearings (Ball Bearings) Fri, 09 Oct 2009 20:20:21 -0000
One family relates the reality of living with the Fragile X family of genetic disorders and their personal growth: http://bit.ly/GXLyb
When Families Affected by Genetic Disorders Meet http://bit.ly/233p8e
AlbertBrazier (Albert A Brazier) Fri, 09 Oct 2009 00:58:16 -0000
When Families Affected by Genetic Disorders Meet http://bit.ly/233p8e
Genetic Interest Group - Information about this umbrella group of organizations working together to improve services for people with genetic disorders. A notice board, education, services and links are provided.
PiXiE - Organisation supports sufferers of Pseudoxanthoma Elasticum (PXE). Includes information about the condition and its causes, guidance on managing it, and contact details.
The Alkaptonuria Society - Information about this genetic metabolic disorder for patients and professionals. Includes an FAQ, and a registration page for sufferers.
Meta Description: [ The Alkaptonuria Society is a charity that raises awareness and seeks a cure for a rare and serious genetic disease, Alkaptonuria. ]
The Williams Syndrome Foundation - Information for parents, carers, and professionals about a non-hereditary syndrome which can cause brain damage in varying degrees, combined with some physical side-effects.
Meta Description: [ The official Williams Syndrome Foundation (UK) Website. Williams Syndrome is a non-hereditary syndrome which strikes at random and can cause brain damage in varying degrees, combined with some physical side-effects. These range from lack of co-ordination, slight muscle weakness, possible heart de... ]
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