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Approximately 3% of babies born in Australia have a genetic condition.
Many of the health or developmental problems seen at birth are either directly due to a fault in the genetic information, or are due to a combination of the inherited genetic information and environmental factors such as diet, chemical exposure and lifestyle. Other genetic conditions may not be noticed until childhood, adolescence or adulthood.
Follow the links below to find information about genetic diseases and disorders.
For information on genetic screening and diagnosis of specific genetic conditions, follow the links to the HealthInsite topic pages below.
Updated February 2009
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Related HealthInsite Topics
Birth Defects
HealthInsite Topic Page
Links to information about birth defects, including congenital heart defects, spina bifida, cleft lip and palate and various syndromes.
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Brain Diseases
HealthInsite Topic Page
Links to information about a range of brain diseases.
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Chromosome Defects
HealthInsite Topic Page
Links to information about chromosome defects, including Down Syndrome and Fragile X Syndrome.
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Colour Blindness
HealthInsite Topic Page
Links to information about colour blindness.
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Cystic Fibrosis
HealthInsite Topic Page
Links to information on cystic fibrosis.
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Genetic Screening
HealthInsite Topic Page
Links to information on genetic screening and diagnosis.
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Haemophilia
HealthInsite Topic Page
Links to information about haemophilia.
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Huntington's Disease
HealthInsite Topic Page
Links to information and support for people affected by Huntington´s Disease.
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Long QT Syndrome
HealthInsite Topic Page
Links to information about Long QT Syndrome.
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Muscular Dystrophy
HealthInsite Topic Page
Links to information on muscular dystrophy.
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Phenylketonuria
HealthInsite Topic Page
Links to information about phenylketonuria.
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Sickle Cell Disease
HealthInsite Topic Page
Links to information about sickle cell disease.
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Thalassaemia
HealthInsite Topic Page
Links to information on thalassaemia.
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Tourette Syndrome
HealthInsite Topic Page
Links to information about Tourette Syndrome.
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Tuberous Sclerosis
HealthInsite Topic Page
Links to information about tuberous sclerosis, a genetic disorder that commonly causes tuber like growths in the brain.
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| Title: |
Genetics Directory
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| Publisher: |
The Cancer Council Australia
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| Description: |
Provides a link to access The Cancer Genetics Education Resource Directory which provides a list of Australian publications and resources for health professionals and members of the public to download.
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| Date: |
Aug 2009
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| Title: |
Family history and cancer
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| Publisher: |
The Cancer Council Australia
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| Description: |
Provides information about what a family history of cancer is and what consumers should do if they have a family history of cancer.
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| Date: |
Aug 2009
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| Title: |
Human genetics and genetic technologies
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| Publisher: |
National Health and Medical Research Council (NHMRC)
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| Description: |
Nationally and internationally advances in genetic research and genetic testing are ongoing. Information on ethical aspects of genetic research and genetic testing including privacy and confidentiality, are provided.
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| Date: |
Aug 2009
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| Title: |
eGenetics
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| Publisher: |
National Health and Medical Research Council (NHMRC)
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| Description: |
eGenetics is an Australia-wide collection of links and resources for genetic diseases.
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| Date: |
Jul 2009
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| Title: |
Genes - not the kind you wear!
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
What are genes? How embarrassing is it when you haven't seen a friend of the family or a relative for a while, and they say things like 'he looks just like his father!' Why would they say stuff like that?
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| Date: |
Jun 2009
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| Title: |
Kidneys - polycystic kidney disease
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| Publisher: |
Better Health Channel
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| Description: |
Polycystic kidney disease (PKD) is a genetic condition characterised by the growth of cysts on the kidneys. There is currently no cure but medical treatment can manage symptoms and reduce the risk of complications. Complications may include urinary tract infections, high blood pressure and kidney failure.
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| Date: |
May 2009
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| Title: |
Gene therapy
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| Publisher: |
Better Health Channel
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| Description: |
Inheriting faulty genes can directly cause a wide range of disorders, such as cystic fibrosis and haemophilia, and cause susceptibility to some cancers. Gene therapy is an experimental form of treatment that aims to get rid of genetic diseases at their source. Gene therapy may be used to replace a faulty gene with a healthy version or to introduce a new gene to cure a condition or modify its effects.
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| Date: |
Apr 2009
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| Title: |
Carnitine supplementation for inborn errors of metabolism
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Inborn errors of metabolism are genetic disorders which have a wide range of symptoms. These often start at or soon after birth but may appear first at any time during adulthood. Affected individuals may need to deal with symptoms of the disease through...
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| Date: |
Feb 2009
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| Title: |
Infantile spinal muscular atrophy
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| Publisher: |
Better Health Channel
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| Description: |
Infantile spinal muscular atrophy (SMA) is an inherited genetic condition and is also known as Werdnig-Hoffman disease. The nerve cells that service the muscles don't work properly, causing muscle weakness and withering. There is no cure. Treatment can ease complications including pneumonia and breathing difficulties. A child with SMA rarely lives beyond three years.
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| Date: |
Dec 2008
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| Title: |
Antioxidants and other pharmacological treatments for Friedreich ataxia
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Friedreich ataxia is a rare progressive condition that causes damage to the nervous system. It is inherited in an autosomal recessive pattern, meaning that an affected gene must be inherited from each parent for the disease to develop in their child. It...
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| Date: |
Dec 2008
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| Title: |
Creutzfeldt-Jakob disease
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| Publisher: |
Better Health Channel
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| Description: |
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive disease that causes deterioration of the brain. It is one of a group of rare diseases that affects humans and animals. Variant CJD is sometimes referred to as 'mad cow disease'. There is no cure and death usually results within two years of the symptoms first appearing.
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| Date: |
Sep 2008
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| Title: |
Bisphosphonate therapy for osteogenesis imperfecta
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Osteogenesis imperfecta is an inherited disorder of type I collagen characterized by low bone mass, bone fragility, and fractures with minimal or no trauma. Treatment for the disorder is largely supportive, but recently bisphosphonate therapy has been e...
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| Date: |
Aug 2008
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| Title: |
Von Willebrand's disorder
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| Publisher: |
Better Health Channel
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| Description: |
Von Willebrand's disorder (VWD) is an inherited bleeding disorder. People with von Willebrand's may have frequent nosebleeds, easy bruising, heavy menstruation (periods) and/or excessive bleeding from the mouth. VWD can be so mild that people do not know they have the condition until they have surgery or a major accident.
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| Date: |
Jul 2008
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| Title: |
Congenital adrenal hyperplasia
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| Publisher: |
Better Health Channel
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| Description: |
Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands. The condition is often diagnosed at birth. It means the child will either not produce adrenal hormones or will produce them in the wrong amounts. There is no cure, but CAH can be managed with hormonal treatment.
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| Date: |
Jun 2008
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| Title: |
von Willebrand disease - myDr.com.au
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| Publisher: |
myDr
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| Description: |
Find out about Von Willebrand disease, an inherited bleeding disorder that affects one in 1000 people.
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| Date: |
May 2008
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| Title: |
Treacher Collins syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Treacher Collins syndrome is a genetic disorder that affects the growth and development of the head. This condition causes facial birth defects, cleft palate and hearing loss. In most cases, the child's intelligence is normal. Treatment includes reconstructive craniofacial surgery. Treacher Collins syndrome is also known as mandibulofacial dysostosis or Franceschetti's syndrome.
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| Date: |
Apr 2008
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| Title: |
Promyelocytic leukaemia (PML)
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| Publisher: |
Virtual Medical Centre.com
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| Description: |
Information on the symptoms, treatment and diagnosis of Promyelocytic leukaemia by professional health specialists.
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| Date: |
Apr 2008
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