Did you know there are more than 6000 different genetic diseases?

 

While often inherited, many genetic diseases happen ‘out of the blue’ due to chance occurrences, so they can affect anyone. Most are poorly understood and have no specific treatments or cures

Often called disorders, syndromes and other terms, genetic diseases can be confusing, but put simply—they are conditions caused, at least in part, by changes in our DNA. Random errors that occur naturally, or exposure to radiation and harmful environmental substances like asbestos, can cause changes in our DNA.

What is DNA? Think of it as the recipe for making your body, including your brain. Together with your upbringing, education, and other factors in your environment, DNA has a major role in making you who you are. Unless you are an identical twin, your DNA recipe is unique. We get half our DNA from our mother and half from our father.

Our DNA recipe is complex and undergoes change. These changes are sometimes called mutations. Most of the changes are harmless, but some are not.

Sometimes, a very small change in our DNA can result in a life-threatening genetic disease. At least five thousand disorders are caused by a change in a single gene. Another thousand genetic diseases are more complex in nature. ‘Complex’ or ‘multifactorial’ diseases are the result of many genetic changes and are influenced by our environment. Frequently, all the causes are not yet known.

Cancer, for example, is a complex genetic disease that only occurs when multiple genes are damaged. Mostly, that damage is not inherited but results instead from random changes or environmental factors like UV light, other radiation or dangerous chemicals. Sometimes, people inherit a damaged copy of a "cancer gene", which results in an increased risk of getting cancer. While not all genetic diseases are life-threatening, they can still have a profoundly negative impact on the lives of affected children and families.
 

With your help, we believe we can make a difference for these children.


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We are Children’s Medical Research Institute, the scientists and doctors behind Jeans for Genes.
For the past 60 years, our globally-recognised organisation has conducted medical research to understand the causes of genetic diseases, and to devise better treatments and even cures.
We began the Jeans for Genes campaign over 25 years ago to fund research that will change children's lives. It also raises awareness of the critically important role of genes in children’s health.

Together, we can educate and change perceptions.

Understanding brings compassion.

Compassion brings acceptance.

And acceptance is a gift we can give today to every child living with a genetic disease.

 

Resources:

NSW Health - Centre for Genetics Education – Questions? Start here

Genetic Alliance Australia—Support Services
 

Further information:

Australian Genomics Health Alliance

Genetic Disorders (Medline Plus, US)

Genes and Disease (Nature Education)

The Genetics of Cancer (NIH, US)

Acute Lymphoblastic Leukemia (NIH, US)

Mucolipidosis type IV (Genetics Home Reference, US)

LCHAD Deficiency (Genetics Home Reference, US)

Russell Silver Syndrome (Genetics Home reference, US)

Autism Spectrum Disorder (Genetics Home Reference, US)

Cystic Fibrosis (Genetics Home Reference, US)

PVNH (Genetics Home reference, US)

Wilms Tumour (Genetics Home reference, US)

Propionic Acidemia (Genetics Home reference, US)

Cystinosis (Genetics Home reference, US)

Glass Syndrome (SAT2B-associated syndrome) (Genetics Home reference, US)

 


Our Jeans for Genes kids



Charlize

Beautiful Charlize was diagnosed with Propionic Acidemia and has already undergone two liver transplants.
Read more.



Ethan

When little Ethan was born, his family had no idea what challenges their little boy would face. 
Read his story.


Iluka

At four weeks old Iluka was diagnosed with a genetic disease which can affect her brain, heart, lungs, connective tissue, and bowel. 
Read her story.

Ryan
Two-year-old Ryan may have an extremely serious genetic disease, but his parents will never let him feel like a victim.
Read more.



Naomi

Four-year-old Naomi is a beautiful little girl diagnosed with SATB2 Associated Syndrome (SAS), a rare genetic syndrome.
Read more.



Chloe

Chloe and her twin sister Zara were just two years old when she was diagnosed with a stage five Wilms Tumour and started chemotherapy.
Read her story.