Genetic Disorders

A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells. These mutations can occur randomly or because of an environmental exposure such as cigarette smoke.

Other genetic disorders are inherited. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.

If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.

National Human Genome Research Institute

Genetic Disorder on Wikipedia

A '''genetic disorder''', or '''genetic disease''' is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: * They may be caused by random mutation. * There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome and Klinefelter's syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome. * The defective genes are often inherited from the person's 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.

Single gene disorders

A number of genetic disorders are due to the change of a single gene, resulting in an enzyme or other protein not being produced or having altered functionality, they are called monogenic disorders. The change can be trivial and relatively harmless in its effects, such as color blindness, or lethal such as Tay-Sachs. Other disorders, though harmful to those afflicted with them, appear to offer some advantage to carriers; as in carriers of sickle cell anemia and thalassemia appearing to have enhanced resistance to malaria. Several hereditary diseases are sex-linked, meaning that they afflict one sex much more common than the other because the mutation is located on the X (or, rarely, on the Y) chromosome.

Transmission of single gene disorders

Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the following ways, however Imprinting (genetics) and uniparental disomy may affect inheritance paterns. {| border="1" cellpadding="2" !Inheritance pattern !Description !Examples |- | Autosomal dominant |Only one mutated copy of the gene is needed for a person ... [ Read More ]

External Resources

Opening Workshop: Specific Language Impairment, Genes, Development and Cognitive Neuroscience - 18-20 October 2002 at University College London. Aims to disseminate and discuss recent research findings from genetics to cognitive neuroscience in SLI/developmental disorders and related areas of language and cognitive development. Includes program and abstracts.

Synergene Biotechnology Group - DNA genetics diagnostic laboratory launched Jan'2002, offers commercial DNA sequencing, genetic identification, clinical tests for genetic disorders and custom based research in Belgium and Malta.

About Proteins - References, patents links, discussion of transkaryotic proteins, cytochrome P450, and speculation on treatment genetic disorders to promote book sales by oxydex.com.

Human Chromosome Launchpad - Information about each human chromosome. Features links to gene maps, sequences, genetic disorders, identified genes, laboratories, and research.

Ceregene, Inc. - Pioneering genetic therapies for neurologic disorders.

GeneClinics: Medical Genetics Knowledge Base - NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

The Genetics Wormhole - Portal site with links to educational resources on genetic disorder, journals, support groups, bioinformatics, and resources for researchers and clinical geneticists.

Gene Dx - Genetic testing and diagnosis company serving individuals and families suffering from severe hereditary disorders.

Kimball Genetics - Genetic testing laboratory specializing in DNA analysis for common genetic disorders. Includes listing of tests available.

Gendia - Genetic Diagnostics - International network of laboratories offering molecular tests for a range of disorders.

Related Pages on HealthTales.com:

Genetic Brain Disorders
Genetic Counseling
Genetic Testing
Bleeding Disorders
Cartilage Disorders
Ear Disorders
Eating Disorders
Esophagus Disorders
Growth Disorders
Learning Disorders

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