Search results for: genetic%2520diseases

Genetic testing

Genetic testing can give you vital information if you're planning a family, or if you or your partner has a genetic disorder.

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.

Genetic disorders

Browse our index of articles on genetic disorders to learn about a specific condition. Information includes signs and symptoms of the condition, how it is diagnosed and where to go for support.

Cloning

Cloning makes use of technology to create an exact genetic copy of a living cell, tissue or organism.

Tay-Sachs disease

Babies with Tay-Sachs develop slowly, lose vision and speech and typically don't reach school age. It's more common in certain genetic groups.

Angelman syndrome

A rare syndrome causing physical and intellectual disability. It can’t be cured, but some therapies can improve the quality of life of those affected.

Lynch syndrome

Lynch syndrome, formerly known as HNPCC, is a genetic condition that increases the risk of a person developing some cancers, such as bowel cancer. Learn more here.

Gene therapy

Links to trusted information about gene therapy.

Cri du chat (Cry of the cat) syndrome is a rare genetic disorder that causes delayed physical development, a small head size and intellectual disability. Learn more here, including why the condition has this name.

Albinism

Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic condition that can cause an limitless appetite. Read more about the symptoms and treatments.

Ehlers-Danlos syndrome

People with Ehlers-Danlos have very loose joints and easily bruised or stretchy skin. Symptoms can be managed, but there is a higher risk of injury.

Turner syndrome

Turner syndrome is a genetic disorder caused by a missing or partially missing X chromosome. Find out more about its symptoms and treatments here.

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is a common, inherited genetic condition that can cause chronic lung and liver disease. Treatment can slow down the progress of the disease. Learn more here.

Marfan syndrome

This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.

Apert syndrome

Apert syndrome is a rare condition that causes an abnormally shaped skull and fused fingers and toes. Other body parts and organs are also affected. Surgery and other treatments can, however, help development.

Hair problems

Hair problems can arise from genetic disorders, psychological disorders or different types of infections. Find more information on a number of different hair problems.

Edwards syndrome (Trisomy 18)

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

Neurofibromatosis

Neurofibromatosis is a manageable genetic condition characterised by benign tumours. Learn more about its symptoms, diagnosis and treatment options.

Fabry disease

Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptoms. Learn more here.

Spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that causes your muscles to become weaker. Learn more about the 5 different types of SMA.

Tuberous sclerosis

Tuberous sclerosis is a rare genetic disease that may affect many parts of your body, behaviour and thinking. There’s no cure, but it can be treated.

Duchenne muscular dystrophy

DMD, the most common muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.

Brugada syndrome

Brugada syndrome can disrupt your heart rhythm, causing palpitations, fainting or in serious cases, cardiac arrest. Read about symptoms and treatment.

Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects your lungs and digestive system. Learn more about what causes CF and how it is treated.

G6PD deficiency

G6PD deficiency or 'favism' is a genetic disorder. It leads to red blood cell breakdown upon exposure to certain triggers, but can be managed.

Huntington's disease

Huntington's affects the nervous system and worsens over time. Symptoms include difficulty controlling limbs and cognitive and emotional changes.

What is a congenital disorder?

Congenital disorder, also known as congenital disease or birth defects, are conditions present from birth. Find out more about congenital disorders.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease affects your nervous system. It’s a progressive disease, but some therapies can help with your CMT symptoms.

Retinitis pigmentosa

Retinitis pigmentosa is a genetic eye disorder that causes vision loss, including night blindness and tunnel vision. Discover the symptoms and causes.

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Search results for: "genetic%2520diseases"

Life stage

Genetic testing

Guide to genetic disorders

Genetic disorders

Cloning

Tay-Sachs disease

Angelman syndrome

Lynch syndrome

Gene therapy

Cri du chat syndrome

Albinism

Prader-Willi syndrome

Ehlers-Danlos syndrome

Turner syndrome

Alpha-1 antitrypsin deficiency

Marfan syndrome

Apert syndrome

Hair problems

Edwards syndrome (Trisomy 18)

Neurofibromatosis

Fabry disease

Spinal muscular atrophy (SMA)

Tuberous sclerosis

Duchenne muscular dystrophy

Brugada syndrome

Cystic fibrosis (CF)

G6PD deficiency

Huntington's disease

What is a congenital disorder?

Charcot-Marie-Tooth disease

Retinitis pigmentosa

Life stage

Genetic testing

Guide to genetic disorders

Genetic disorders

Cloning

Tay-Sachs disease

Angelman syndrome

Lynch syndrome

Gene therapy

Cri du chat syndrome

Albinism

Prader-Willi syndrome

Ehlers-Danlos syndrome

Turner syndrome

Alpha-1 antitrypsin deficiency

Marfan syndrome

Apert syndrome

Hair problems

Edwards syndrome (Trisomy 18)

Neurofibromatosis

Fabry disease

Spinal muscular atrophy (SMA)

Tuberous sclerosis

Duchenne muscular dystrophy

Brugada syndrome

Cystic fibrosis (CF)

G6PD deficiency

Huntington's disease

What is a congenital disorder?

Charcot-Marie-Tooth disease

Retinitis pigmentosa

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