Genetic Disorders

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  • Frequently Asked Questions About Genetic Disorders

    Human Genome Research Institute — A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene. As we unlock the secrets of the human genome, we are learning that nearly all diseases have a genetic ...More…

  • Genetic Disorders

    Medem — Problems in the genes or chromosomes of a fetus are called genetic disorders. These disorders may be inherited (passed from parent to child) or they may occur without a family history. Genetics is the study of how traits — such as blood type — ...More…

  • Slide show: How genetic disorders are inherited

    Mayo Clinic — Genetic disorders often are inherited from parents. This slide show explains how it happens. Your body is made up of trillions of cells. Each cell has a core structure (nucleus) that contains your chromosomes. Each chromosome is made up of ...More…

  • The Basics on Genes and Genetic Disorders

    Kids Health — Genes play an important role in how we look and act, and even in whether we get sick. This article gives the lowdown on genes, genetic disorders, and new research into gene therapy. Have people ever said to you, "It's in your genes?" They ...More…

  • Turners-syndrome

    NHS Direct — Turner syndrome (TS) is a genetic condition that only affects females. The condition is caused by an abnormal chromasome, and it affects about one in every 2,500 baby girls. TS was named after Dr Henry Turner, who discovered the condition in ...More…

  • Noonan-syndrome - introduction

    NHS Direct — Information on Noonan syndrome including causes, symptoms, diagnosis, risks and treatment. Noonan syndrome is a genetic disorder that affects between one in 1,000 and one in 5,000 people. It is usually diagnosed at birth or in early ...More…

  • Huntingtons-disease

    NHS Direct — Information on Huntington's disease from NHS Choices including causes, symptoms, diagnosis, risks and treatment Huntington's disease is an inherited disease of the brain, for which there is no cure. The disease damages the nerve cells in the ...More…

  • What are genes?

    NHS Direct — Genetics is a branch of science that researches how we inherit our physical and behavioural characteristics. The genetic material that determines these characteristics is located in our genes. Genes are units of 'genetic material' that determine . ...More…

  • How common is dyslexia?

    NHS Direct — Information on Dyslexia from NHS Choices including causes, symptoms, diagnosis, risks and treatment and with links to other useful resources People with dyslexia have difficulties processing written information. This can cause problems with ...More…

  • Downs-syndrome

    NHS Direct — Emily, now 18, was born with Down's syndrome. Her mum, Sarah, talks about the health issues they faced and Emily's life today. Down's syndrome is a genetic disorder named after John Langdon Down, the doctor who first identified it. It affects ...More…

  • Diabetes-type2

    NHS Direct — Diabetes affects two million people in England and Wales. It is also thought that there are a further 750,000 people who have the condition but are unaware of it. However, in diabetes, because there is either not enough insulin, or because there ...More…

  • Cystic-fibrosis

    NHS Direct — Information on Cystic fibrosis from NHS Choices including causes, symptoms, diagnosis, risks and treatment and with links to other useful resources Fourteen-year-old Lauren Hutchins talks about living with cystic fibrosis. Cystic fibrosis is a ...More…


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