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.
Our DNA information is massive. If written out, it would fill 1 million pages or 200 city phone books. And changing just one single letter in all those books can cause a 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, like leukaemia 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.
The families of children with genetic diseases are used to hearing words like “incurable” or “lifelong effects”. It doesn’t have to be this way. Right now, we’re working on gene therapy to find cures for previously incurable genetic diseases, like Propionic Acidemia.
Gene therapy is a method of curing genetic diseases by correcting the cause, by fixing the error in a child’s DNA.
Our researchers have helped bring gene therapy cures to Australia for “boy in the bubble disease” (SCIDX1-deficiency), spinal muscular atrophy, and the cure we’ve developed for a metabolic liver disease (OTC-deficiency) is entering clinical trials in the UK.
With your support, we can do so much more.
Right now, we are establishing 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 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.
Kids just want to be kids, but instead of playing sports with their friends or catching beetles on a sunny day, these kids are getting liver transplants, taking dozens of medications, or getting their next dose of chemotherapy. It shouldn’t be this way. You can help find treatments and cures, so these kids can go back to being kids.
Cleveland Clinic - More 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); Cystinosis (Genetics Home reference, US); Glass Syndrome (SAT2B-associated syndrome) (Genetics Home reference, US); Carnitine-acylcarnitine translocase (CACT) (Genetics Home reference, US); Cystic Fibrosis (Genetics Home reference, US); Diastrophic Dysplasia (Genetics Home reference, US); Burkitt’s lymphoma (National Center for Advancing Translational Sciences, US); Shwachman-Diamond syndrome (Genetics Home reference, US); SCN2A gene (Genetics Home reference, US); Propionic acidemia (Genetics Home reference, US)