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Search results for: "genetic diseases and disorders"

Guide to genetic disorders

Problems with genes can cause health or development problems. Some genetic disorders affect people from birth, others develop later in life. Learn more from a trusted source.

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Genetic disorders

Learn about specific genetic disorders. Information includes signs and symptoms of the condition, how it is diagnosed and where to go for support.

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Tay-Sachs disease

Tay-Sachs disease is a genetic disorder which leads to the premature death of young children. Read more about Tay-Sachs disease on our partner pages.

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Edwards syndrome (Trisomy 18)

Edwards syndrome, also called Trisomy 18, is a genetic disorder in babies that causes severe disability. It is caused by an extra copy of chromosome 18.

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Genetic testing

Genetic testing can give you important information if you are planning a family or if you, or someone you care for, has a genetic disorder.

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Genetics of dementia

Trusted information about the genetics of dementia, including rare types of inherited dementia and genetic counselling

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Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a type of muscular dystrophy most common in children. Symptoms include muscle wasting and breathing problems, and while there is no cure, treatment aims to improve quality of life.

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Angelman syndrome

Angelman syndrome is a rare genetic disorder that causes physical and intellectual disability. Learn about therapies that can improve the quality of life of those affected.

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Jeans for Genes Day

Jeans for Genes Day is a national day when people wear their jeans to raise much-needed funds for research into birth defects and diseases such as cancer, epilepsy, and a range of genetic disorders.

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Williams syndrome

Williams syndrome is a genetic condition that can cause development, learning and health problems. While it can’t be cured, treatment of the condition can manage the symptoms. Read our trusted partner content to find out more.

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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is a neurological condition which affects feet, leg, arm and hand muscles. You can read more on our trusted partner pages.

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