Cystic fibrosis (CF)

Cystic fibrosis is a disease affecting the lungs and digestive system. Learn more about cystic fibrosis (CF), including its symptoms, treatment options and how it's diagnosed.

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Congenital adrenal hyperplasia

Congenital adrenal hyperplasia affects the body’s hormones. People may experience health problems, but it may be possible to enjoy a normal lifestyle.

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Genetics of dementia

There isn't a single gene that is responsible for most types of dementia. However, some rare types of dementia can be inherited.

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Obstructive lung diseases

People with obstructive lung disease, such as COPD, asthma or CF, experience shortness of breath. Learn more about obstructive lung diseases.

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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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Tuberous sclerosis

Tuberous sclerosis affects parts of the body, behaviour and thinking. If you notice symptoms you should see a doctor, but there are ways to manage the disease.

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Haemochromatosis

Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.

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Noonan syndrome

Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.

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Fragile X syndrome

Fragile X syndrome is an inherited, life-long condition that can cause a range of problems. Early diagnosis and treatment can help those affected to reach their full potential.

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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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