While often inherited, genetic diseases can also happen ‘out of the blue’ due to chance occurrences. You probably know someone who is affected.

Genetic diseases are often misunderstood.

The term 'genetic disease' might sound familiar, but here are six key things that you may or may not know about these kinds of conditions:

  1. They are more common than you think.

    ​1 in 20 kids face a birth defect or genetic disease, and genetic conditions are a contributing factor in 30% of children’s hospital admissions. Autism, cystic fibrosis, life-threatening metabolic disorders, and even cancer are genetic diseases.

  1. A very small change in your DNA is all it takes to develop a life-threatening genetic disease.

    What is DNA? Think of it as the recipe for making your body, including your brain. Your DNA information is massive. If written out in small font, it would fill 1 million pages or 2000 city phone books. And changing just a single letter in any of those books can cause a genetic disease. While not all genetic diseases are life-threatening, they can still have a profoundly negative impact on the lives of affected children and families.

  1. Genetic diseases are not contagious: they cannot be passed from person to person like the flu.

    A genetic ‘disease’ is not caused by germs and is not infectious. ‘Disease’ simply means something not functioning as it should. Genetic diseases are mostly inherited from parent to child. Often, children are born with a genetic disease where there is no family history. Sometimes this is because the disease only occurs when the child is unlucky enough to inherit a faulty copy of a gene from both parents who are completely unaware that they are carrying it, but sometimes they happen out of the blue due to a random error occurring in the child's DNA.

  1. There are over 6000 different genetic diseases.

    Most have names you’ve never heard of, but together they are common and affect too many Aussie kids. 1 in 20 kids face a birth defect or genetic disease. They can range from neurological conditions to cancer or metabolic disorders that cause toxic chemicals to build up in our cells and trigger organ failure.

    At least five thousand genetic diseases are caused by a change in a single gene (i.e. an error in a single ‘word’ of our DNA information). Another thousand genetic diseases are more complex in nature, resulting from many genetic changes, and are influenced by our environment.

  1. Most are poorly understood and have no specific treatments or cures.

    That’s because there are too many diseases and not enough scientists or funding to study them all.

    Even when the change in a gene that causes a genetic disease is identified, scientists may not fully understand how that gene functions and thus may not know how to treat the problem. More research is required to understand the functions of genes in disease and devise treatment solutions.

  1. Gene therapy can treat and possibly cure some genetic diseases right now.

    But much more work is needed to make this available for many more conditions.

    Gene therapy is a method of curing genetic diseases by correcting the cause - by fixing the error in the DNA. Microscopic tools are used to scan the DNA in our bodies, find an error, and correct it. Thousands of gene therapy clinical trials are happening all over the world, and some are having spectacular results, treating (and possibly curing) children with serious genetic diseases with a single injection. This is the future of medicine, but much work is needed to apply this technology to more genetic diseases and make it more accessible to patients.


At Children’s Medical Research Institute, our gene therapy team have helped deliver gene therapy treatments in Australia for diseases such as "boy in the bubble disease" and spinal muscular atrophy, and a gene therapy we’ve developed for metabolic liver disease is entering clinical trials in the UK.

Right now, we are working on a cure for Propionic Acidemia, to help children like Charlize.



Charlize lost her twin brother to the same genetic disease she’s fighting. Propionic Acidemia is a severe metabolic disorder that causes a build-up of acids in the body. She’s already had two liver transplants to prevent brain damage. Kids should be playing Operation, not having operations. 

Watch Charlize’s Full story

You can help find cures for children’s genetic diseases.

The families of children with genetic diseases are used to hearing words like “incurable” or “lifelong effects”. We believe it doesn’t have to be this way.

With your support, we can do so much more.

We are leading a new gene therapy initiative to fill the gap in Australian medicine. We want to ensure children facing genetic diseases go from diagnosis to cure, and that those cures are available right here at home.

No child’s life should be cut short, and we will do all within our power to change “incurable” to “curable”.

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 sought to understand the causes of genetic diseases, in order to find treatments and cures. We need your support, so these kids can go back to being kids.


Please help us find treatments and cures for children's genetic diseases.

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