Tag: rare disease
What is Fibrodysplasia Ossificans Progressiva (FOP)? Exploring the Rare Genetic Disorder with Leading Experts
Fibrodysplasia ossificans progressiva (FOP) is an ultra rare disease, where soft tissues progressively turn into bone. FOP affects approximately 1 in 2 million people worldwide. This condition is caused by a mutation in the ACVR1 gene, which disrupts the body’s…
Understanding Lecithin Cholesterol Acyltransferase (LCAT) Deficiency Disorders
Lecithin cholesterol acyltransferase (LCAT) deficiency is a genetic disorder that affects the body's ability to process cholesterol. It is characterized by cloudiness of the clear front surface of the eye (corneal opacities), a shortage of red blood cells (hemolytic anemia),…