Fabry Disease: A Rare Genetic Disorder

Fabry disease is a rare, X-linked genetic disorder that causes a buildup of a fatty substance called globotriaosylceramide (GL-3) in the body’s cells. This buildup can damage blood vessels, organs, and tissues throughout the body. Fabry disease is caused by a mutation in the GLA gene, which provides instructions for making the enzyme alpha-galactosidase A […]

Cystic Fibrosis: A Lifelong Disease

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, pancreas, and other organs. It is caused by a defective gene that makes the body produce abnormally thick and sticky mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas. The symptoms of CF can vary from person […]

Sickle Cell Disease: Symptoms, Diagnosis, and Treatment

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. It is caused by a mutation in the hemoglobin gene, which is the protein that carries oxygen in the blood. In people with SCD, the hemoglobin molecules are abnormal and can form into long, rigid structures called “sickle cells.” These sickle cells […]

Red-Green Color Blindness: What You Need to Know

Red-green color blindness is the most common type of color blindness, affecting about 8% of men and 0.5% of women worldwide. It is caused by a defect in the genes that control the production of color-sensitive proteins in the retina of the eye. These proteins, called cone pigments, help us see different colors. People with […]

Hemophilia: A Bleeding Disorder

Hemophilia is a rare genetic disorder that affects the blood’s ability to clot. People with hemophilia bleed longer than normal because they don’t have enough of a protein called factor VIII (FVIII) or factor IX (FIX). These proteins help blood clot by forming a mesh that traps blood cells and platelets. There are two main […]

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