Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes.

Fragile X Syndrome

Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas.

Sickle Cell Anemia

Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S. Sickle cell anemia is  is an inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body,...

Mucopolysaccharidosis Type 1 (MPS 1)

Overview Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations...
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