Rare Disease: Pioneering the Science of Breakthroughs

Acromegaly is a chronic, rare disease associated with excess growth hormone secretion. It causes overgrowth of body tissues and, if untreated, can lead to secondary problems such as hypertension and heart failure.

Failure to receive adequate medical treatment for this condition can reduce life expectancy by 10 years.

Learn About Acromegaly

Duchenne muscular dystrophy is a rare genetic disease that causes progressive loss of muscle tissue. It affects boys almost exclusively.

Patients typically lose the ability to walk by the time they reach 12 years of age, and often die as a result of respiratory or cardiac failure.

Before treatments were available, children with the disease typically lived into their early teens. But as a result of steroid use and supportive respiratory therapies, many patients now live well into their 20s.

There is still much to be done to allow these patients to live a fuller life.

Learn About Duchenne Muscular Dystrophy

Gaucher (go-SHAY) disease is a rare, inherited condition in which fatty deposits accumulate in critical organs and body systems, causing damage.

The disease is caused by genetic mutations received from both parents.

Learn About Gaucher Disease

Growth hormone deficiency (also known as dwarfism) is a growth disease associated with inadequate secretion of growth hormone from the pituitary gland, the "master gland" in the brain.

Children with this disease have abnormally short stature with normal body proportions.

Learn About Growth Hormone Deficiency

Hemophilia is a rare hematological (blood) disease that has been one of our key areas of focus for more than 30 years. Significant progress has been made in the treatment of hemophilia. 

Prior to the 1960s, average life expectancy of a male with severe hemophilia was 12 years of age. 

Today, hemophilia patients who receive treatment can expect to live relatively active and long lives.

However, we believe more can be done to improve treatment for these patients and we are making progress with pioneering approaches to treat the full spectrum of the disease.

Learn About Hemophilia

Sickle cell disease is a rare hematological condition that results in misshapen red blood cells, which can block the flow of blood through the body. (Sickle cell anemia is one of the conditions grouped under this disorder.) 

Sickle cell disease can cause intense pain, as well as problems such as stroke, acute chest syndrome, joint damage, kidney issues, and occasionally heart problems.

Learn About Sickle Cell Disease

Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a rare but life-threatening condition that affects the heart and is associated with heart failure.

ATTR-CM is characterized by the build-up of transthyretin amyloid in the heart, which causes the heart muscle to stiffen over time, eventually leading to heart failure.

Symptoms of ATTR-CM often mimic those of other more common heart conditions, resulting in the disease being significantly underdiagnosed. Education, awareness, and treatment are critical to improving the diagnosis and care of people affected by ATTR-CM.

Learn About Transthyretin Amyloidosis

Transthyretin Amyloid Polyneuropathy (ATTR-PN) is a rare, progressive, and fatal neurodegenerative disease, which causes an abnormal build-up of amyloid deposits in the peripheral and autonomic nerves, leading to symptoms such as numbness in the feet, dizziness or fainting, abnormal heartbeat, and unintentional weight loss.

ATTR-PN can be difficult to recognize and manage. Misdiagnosis is common and definitive diagnosis can be delayed for years, postponing adequate treatment and genetic counseling, and leading to possible irreversible damage.

Learn About Transthyretin Amyloid Polyneuropathy