October is Gaucher Awareness Month
Gaucher is one of the most common, frequently occurring Lysosomal Storage Disorder (LSD). LSDs are genetic disorders due to the lack of specific enzymes which break down lipids (fats) or carbohydrates (sugars) in the body. There are more than 40 types of LSDs. Like most LSDs, Gaucher occurs in up to 1 in 40,000 live births each year. Gaucher is most prevalent among the Ashkenazi Jews.
Gaucher disease is due to the lack of key enzyme glucocerebrosidase (GCase) which breaks down a lipid (fat) known as glucocerebroside. Since the body cannot break down this type of fat, it leads to dangerous accumulation in the spleen, liver and bone marrow which can be fatal.
Currently, there is no cure for Gaucher and treatment involves management of the condition with enzyme replacement therapy, medications and surgeries. Research for gene therapy is in progress and has been giving positive results in clinical trials using the adeno-associated virus and lentiviral vector. CRISPR-CAS9 is another possibility for a permanent cure.
Read more on https://chetindia.org/gaucher/