Gaucher disease

Gaucher disease is part of a group of conditions known as lysosomal storage disorders and results from not having enough of an important enzyme that breaks down a fatty chemical, called Glucocerebroside. Because the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. The signs and symptoms of this condition vary widely among affected individuals

There are 3 types of Gaucher disease:

  • Type 1 / Non-neuronopathic Gaucher disease — This is the most common form of Gaucher disease. Affected individuals can have varied symptoms, however the most common include enlarged spleen and liver, anemia (low red blood cell count), bruising, lung disease and bone pain, fractures and arthritis.
  • Type 2 / Neuronopathic Gaucher disease — This is a rare form of Gaucher disease and involves severe neurological (brain stem) abnormalities. It is currently untreatable because of the severe, irreversible brain damage.
  • Type 3 / Neuronopathic Gaucher disease — This is also a rare form of Gaucher disease, causing a slow progressing neurological disease. Often, this varies in severity and often begins in early childhood. As well as the neurological disease, other symptoms are similar to those experienced in Type 1 Gaucher disease.
Quick facts about Gaucher disease
Genes: GBA
Inheritance: Autosomal Recessive
Alternative Names: GD
Relevant resources for Gaucher disease

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is Gaucher disease inherited?

Gaucher disease is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.

If both parents are carriers of Gaucher disease, there’s a one in four chance that their children could develop symptoms.
Learn more about carrier screening

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Gaucher disease, but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for Gaucher disease before or early in pregnancy?

The biggest benefit of screening for Gaucher disease is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Since 90% of children that have a recessive genetic disease like Gaucher disease had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.

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