About Gaucher

Over the past decades, tremendous progress has been made in the field of Gaucher. From diagnosis to treatment, the process has been accelerated – supported by collaboration, technology, and commitment to patients around the world.

What is Gaucher disease?

Gaucher disease is a rare genetic disorder affecting patients all around the world of the metabolism, characterized by the accumulation of a type of fat called glucocerebroside. While glucocerebroside is a normal part of the cell membrane, our bodies normally make an enzyme called glucocerebrosidase, which breaks down the glucocerebroside and prevent there from being an overabundance. If you have Gaucher disease; however, your body does not make enough of the enzyme to prevent these deposits from occurring.

A Positive Outlook for Gaucher

Over the past decades, tremendous progress has been made in the field of Gaucher. From diagnosis to treatment, the process has been accelerated – supported by collaboration, technology, and commitment to patients around the world.

At CENTOGENE, we see it as our responsibility to play an active role in transforming healthcare for Gaucher. By providing world-class genetic testing, identifying the world’s best Gaucher biomarker, and offering a one-of-a-kind smartphone app for patients, we have seen the progress that can be made and the lives that can be saved. Most recently, we expanded our collaboration with Evotec SE – passionately working together to develop future treatment options for Gaucher patients.

How can Gaucher disease be diagnosed?

Gaucher disease is characterized by the accumulation of glucocerebroside. The genetic cause for this is homozygous or compound heterozygous pathogenic variants in the gene encoding acid beta-glucosidase (GBA) on chromosome 1q22 1.

To establish/confirm the diagnosis of Gaucher disease, GBA gene sequencing and deletion/duplication gene testing can be performed. Within this process, the biomarker Lyso-Gb1 is used as an indicator of Gaucher disease.

How can the Lyso-Gb1 biomarker help?

A biomarker is a measurable indicator of a biological state or condition. Biomarkers help to establish a diagnosis and bring rationality to the treatment of patients with rare diseases. They can be used as a measure of therapy, efficacy, and a guide for therapy dosage.

CENTOGENE’s proprietary biomarker, Lyso-Gb1, has been identified as the most effective biomarker for Gaucher disease and can be easily measured in blood. It demonstrates 100% sensitivity and close to 100% specificity for the diagnosis and monitoring of Gaucher disease.  

Measuring Lyso-Gb1 is essential when being diagnosed and treated for Gaucher disease. Tracking Lyso-Gb1 levels aides in documenting your disease, progression, and the benefits of treatment. This data makes it possible to examine the efficacy of therapy, and if necessary, to explore additional or alternative treatment methods.

How can patients play an active role in their Gaucher treatment?

With myLSDapp – an easy-to-use smartphone app made for Gaucher patients, you can oversee your Gaucher treatments on a long-term basis. By monitoring biomarker levels via the app, you can get a quantifiable indicator of personal disease severity. Additionally, you can track how you are feeling in your day-to-day life using uniquely designed quality of life measurements. You can also keep track of your prescribed treatments through the app calendar – making sure you never miss a reminder.

Find out more about myLSDapp for the next generation of patient-led healthcare and download the app.

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What are the types of Gaucher disease?


Type 1

Gaucher disease type I is the most common form of Gaucher disease and is characterized by a lack of primary central nervous system involvement. Patients with type 1 have highly variable phenotypes, meaning some patients may show no symptoms, while others may experience a variety of symptoms, such as painless splenomegaly, thrombocytopenia, anemia, pancytopenia, nosebleeds, and bruising. Patients may also have chronic fatigue, hepatomegaly, bone pain, or pathologic fractures. Bone disease also occurs in 70-100% of GD type 1 patients.

Type 2

Gaucher disease type 2 occurs in newborns and infants and is characterized by neurological complications as a result of glucocerebroside buildups in the brain. One of the first symptoms noted is enlargement of the spleen, which often becomes apparent by the time the child is six months old. Type 2 patients may also experience loss of previously acquired motor skills, as well as low muscle tone, involuntary muscle spasms, and crossed eyes. Like type 1, symptoms may vary from patient to patient. These symptoms may include difficulty swallowing, abnormal positioning neck, difficulty gaining weight, anemia, and more. Unfortunately, type 2 often progresses quickly and results in life-threatening complications, such as respiratory distress and aspiration pneumonia.

Type 3

Gaucher disease type 3 normally occurs during patients’ first decade of life. Patients with type 3 may experience the same blood and bone related symptoms as type 1 and 2. Additionally, type 3 is characterized by neurological complications, including mental deterioration, ataxia, and myoclonic seizures. Patients often experience interstitial lung disease. Gaucher disease type 3 develops and progresses significantly slower than type 2, with some patients living into their 40s and beyond.

Contact Us

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#WEAREGAUCHER Digital Conference

Don’t miss out on our digital conference on the first of October as we stand together to transform healthcare for Gaucher disease. Join leading experts from around the world as they share the latest insights into Gaucher diagnostics, treatments, and future technologies that could change the game for Gaucher patients. We will hear from patient advocacy groups and take a look inside what Gaucher really means from patients firsthand. The lucky winner of our #WEAREGAUCHER Art Contest will also be announced – shining a spotlight on the incredibly talented Gaucher Community.

#WEAREGAUCHER Webinar Series

Join us and many experts from around the globe, as we share the latest insights into Gaucher disease!