On the last day of February, we honor Rare Disease Day, an annual awareness day to elevate public understanding of rare diseases and call attention to the special challenges people with rare diseases face. A rare disease is one that affects a small proportion of the population. In the U.S., that is defined as a disease that affects less than 200,000 people. In the European Union, a disease is considered rare when it affects less than one in 2,000 people. Nearly three-quarters of rare diseases are genetic, and of those, most start in childhood.
Did You Know?
The zebra is the official symbol of rare diseases in the U.S. and is noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct. While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite the rare disease community.
Here at Vertex, we invest in scientific innovation with the goal of developing transformative medicines for people with serious diseases. While not all serious diseases are considered rare, we are proud to support the rare disease community around the world. We challenged Vertexians to “show their stripes” and share what Rare Disease Day means to them.
Rare disease day is a reminder of the commitment, the fight, and the hope each patient and family experience living with a rare disease. Everyone needs someone in their corner and it’s profoundly comforting knowing there are companies like Vertex relentlessly working to turn hopes into reality.
In honor of Rare Disease Day, we want to highlight some of the rare diseases we are focused on at Vertex.
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes damage to the lungs and the liver. Many people with AATD develop lung disease (most commonly emphysema) and develop symptoms such as wheezing or shortness of breath.
APOL1-Mediated Kidney Diseases
The APOL1 gene is part of the APOL gene family, which plays a role in innate immunity, our body’s built-in system to fight threats. It is present in many tissues, including the kidneys. Certain variants in the APOL1 gene cause damage to the parts of the kidney that filter blood, which can lead to kidney disease and even kidney failure.
Beta thalassemia is an inherited blood disease that affects the red blood cells, which carry oxygen to all organs of the body. Severe beta thalassemia causes anemia and can lead to frequent transfusions and hospitalizations.
Cystic fibrosis is a rare, chronic and life-limiting genetic disease. It is a progressive, multi-system disease that affects the lungs, liver, gastrointestinal tract, pancreas, sinuses, sweat glands and reproductive tract.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children. DMD is an inherited disease primarily seen in boys that causes progressive muscle weakness and muscle wasting and leads to the inability to walk. Muscle deterioration also leads to heart and lung problems, which results in a shortened life expectancy.
Sickle Cell Disease
Sickle cell disease (SCD) is an inherited blood disease that affects the red blood cells, which carry oxygen to all organs of the body. SCD causes severe pain, anemia, organ damage and shortened life span due to misshapen or “sickled” blood cells. SCD affects approximately 100,000 people living in the U.S.
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