- 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.
- 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.
- 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.
- 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. …
- 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 bod …