Science in Rare Diseases
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Gaucher disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide ( GL-1), to build up in various tissues including liver, spleen, and bone marrow. Explore this section to know more about Gaucher disease.
Pompe disease is an inherited genetic disorder caused by a deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), which results in build-up of complex sugars (glycogen) in muscle cells throughout the body. Learn more about Pompe disease in this section.
The mucopolysaccharidoses (MPS) family is a group of inherited diseases, each caused by accumulation of various glycosaminoglycans (GAGs) in the lysosomes. One of the important common type of MPS family - MPS I is caused by genetic changes in the IDUA gene. Explore relevant scientific content on MPS-I in this section.
Dried Blood Spot
Dried Blood Spot or DBS has become a convenient tool in both qualitative and quantitative biological analysis of enzymes estimation of LSDs in the last few years. The DBS test is a simplified way to diagnose lysosomal storage disorders. Explore this section to know more about DBS and its applications in LSDs diagnosis.
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