Cystinosis: What You Need to Know

Cystinosis: What You Need to Know Cystinosis is a rare, genetic disorder that causes an amino acid called cystine to build up in the cells of the body. Cystine is a component of protein, and too much cystine can damage organs and tissues. Cystinosis most often affects the kidneys and eyes, but it can also […]

Single-Gene Disorders: What You Need to Know

Single-gene disorders are caused by a mutation in a single gene. These disorders are often rare, but some examples of common single-gene disorders include sickle cell anemia, cystic fibrosis, and Tay-Sachs disease. Single-gene disorders can be inherited in one of two ways: Autosomal dominant disorders: In autosomal dominant disorders, only one copy of the mutated […]

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