What is a genetic condition?

Genetic conditions include many of the health, growth or developmental problems seen at birth. Others may not be noticed until childhood, adolescence or adulthood. There are over 6,000 known conditions which affect growth, development and health that are due to a change in just one of the 20,000 or so gene pairs in the human cell. There are over a hundred syndromes known to be due to a chromosomal change.

Important points about genetics:

  • Genetic conditions include many of the health or developmental problems seen at birth, in childhood, adolescence or adulthood
  • They include rare and common conditions and make a significant contribution to the problems in growth, development and health experienced by humans
  • Some conditions are directly due to a change in the genetic information in one or more genes. Others are due to an interaction between a change in the genetic information and other factors which can either affect the expression of a gene or cause changes to the information in other genes during the person’s lifetime
  • Certain population groups are more at risk for developing particular genetic conditions than others
  • For some genetic conditions, when a family member is affected or at risk, genetic testing may be available and appropriate
  • It is currently not possible to cure a genetic condition
  • For some genetic conditions there is no treatment but more treatments are being developed each year
  • For other conditions it may be possible to implement preventive and early detection strategies to limit or stop the symptoms developing
  • Current information and support is available from a genetic consultation
  • Support groups provide information about the day to day living with a particular genetic condition and an understanding and empathic ear

Centre for Genetics Education
The Centre for Genetics Education is dedicated to providing current and relevant genetics information. Visit: www.genetics.edu.au

What is a rare disease?

As defined by the Australia Therapeutic Goods Authority, rare diseases are a condition, syndrome or disorder that affects 1 in 10,000 people or less. Due to their rarity, specific issues are raised which concern things such as diagnosis and treatment. Obtaining a diagnosis is often difficult and most rare diseases have no cure.

Although each disease is rare, collectively they will affect almost 1 in 10 people at some time in their life. This equates to affecting approximately 2 million people in Australia and 70 million worldwide. There are around 7,000 different types of rare diseases, with approximately 5 new rare diseases being described in the medical literature each week.

80% of rare diseases are genetic, this is they have a genetic origin. Such diseases are present throughout a person’s life, even if the symptoms are not always present. Rare diseases also include rare cancers as well as better known conditions such as Huntington’s disease.

According to the Global Genes Project, approximately 50% of rare diseases do not have a disease specific foundation supporting or researching that disease.

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