October is Gaucher Disease Awareness Month

0

Along with pumpkins and other fall festivities, October marks awareness initiatives for several causes such as Gaucher disease, Down syndrome and breast cancer.

Gaucher disease is caused by mutations, or changes in the GBA gene which can lead to a toxic level of lipid build up in the body, especially in the liver, spleen, and even the brain.  This build-up leads to the symptoms of Gaucher disease, which include bone, liver, lung disease, and, in some cases, central nervous system disease.  There are three types of Gaucher disease: type 1, in which those affected do not have neurological symptoms; type 2, in which affected individuals have severe neurological involvement and typically do not survive beyond adulthood; and type 3, which has a range of severity, but does include neurological symptoms.  Gaucher disease is an autosomal recessive condition, meaning that both parents must carry a change in one of their two copies of the GBA gene to be at risk to have an affected child.  Gaucher disease can affect anyone, regardless of ethnicity, age or gender. However, Gaucher is more commonly seen in people of Ashkenazi (Eastern and Central European) Jewish descent.

Several treatments are available for Gaucher disease.  Enzyme replacement therapy, a treatment that involves intravenous infusions of the enzyme that is missing in affected individuals, is the preferred treatment for individuals with type 1 and some individuals with type 3 Gaucher disease.  Those with Type 1 (the most common type) usually respond very well to enzyme replacement therapy and see a reversal of their symptoms after two years of treatment.  Bone marrow transplant is also an option for individuals with type 3 Gaucher disease.  Individuals with type 2 Gaucher disease typically do not respond well to available treatments.

Despite the advances in treating this condition, for those with Gaucher, treatment leaves much to be desired. Enzyme replacement therapy, frequent doctor appointments and care for chronic symptoms such as kidney impairment or spleen enlargement are costly and require a great deal of time and energy. Current research is developing a way for adult stem cells to mimic the cells of all three types of Gaucher patients, in hopes of creating new and more effective ways of treating Gaucher disease and other neurodegenerative diseases.

This October, get involved in raising awareness and fighting for a cure, by visiting the National Gaucher Foundation (NGF) website.  The NGF runs walks, auctions and other awareness programs throughout the month of October, information regarding event participation or donation information is available via their website or by calling 1-800-504-3189. For further information regarding Gaucher disease you can also visit Recombine’s page on Gaucher disease.

Share.

About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.