Fabry disease is a rare inherited condition where a specific type of fat builds up in your body’s cells because you lack a crucial enzyme to break it down. This buildup can affect many organs including your heart, kidneys, and nervous system, causing pain, organ damage, and potentially life-threatening complications.

Factor IX deficiency, also known as Hemophilia B or Christmas disease, is a rare inherited bleeding disorder where the blood cannot clot properly due to missing or insufficient clotting factor IX protein, affecting mainly males and requiring lifelong management.

Factor VIII deficiency, also known as hemophilia A, is an inherited bleeding disorder that prevents blood from clotting properly. This condition causes prolonged and excessive bleeding either spontaneously or after injuries, making everyday activities and medical procedures potentially dangerous without proper treatment.

Familial amyotrophic lateral sclerosis (fALS) is an inherited form of ALS that runs in families, accounting for about 5-10% of all ALS cases. Unlike the more common sporadic form, fALS is caused by genetic mutations passed down from parents to children, often striking at a younger age and offering new hope for targeted gene therapies.

Familial haemophagocytic lymphohistiocytosis is a rare and life-threatening genetic condition where the immune system, instead of protecting the body, turns against it and attacks healthy organs.

Focal segmental glomerulosclerosis (FSGS) is a serious kidney condition that develops when scar tissue forms in the tiny filtering units of your kidneys, making it difficult for them to remove waste from your blood and potentially leading to kidney failure.

Fragile X syndrome is the most common inherited cause of intellectual disability and a leading genetic cause of autism. It affects how the brain develops and can impact learning, behavior, and physical features throughout a person’s life.

Friedreich’s ataxia is a rare inherited disorder that progressively damages the nervous system, affecting movement, balance, and coordination. While symptoms typically begin in childhood or adolescence, the disease’s progression varies greatly from person to person, and advances in care and treatment continue to improve outcomes for those living with this condition.