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Targeting APOL1, a genetic cause of severe kidney disease

Targeting APOL1, a genetic cause of severe kidney disease

Certain differences in our DNA can put some people at higher risk of disease—but understanding these differences gives us an opportunity to develop potential treatments.

What is DNA? DNA, which stands for deoxyribonucleic acid, is the code that provides information for how all living things look and function. Each piece of information is carried on a different section of the DNA. These sections are known as genes. Each person has two copies of each gene, one copy from each parent. From person to person, there are very small differences in our genes. These small differences are what makes each person unique.


In 2010, scientists showed that higher rates of severe kidney diseases in African Americans could be linked to specific changes in a gene called APOL1. The APOL1 gene is responsible for protection against a parasite called trypanosome, which can be found in parts of Africa. Some trypanosome parasites can cause a disease called African sleeping sickness. Having protection from African sleeping sickness is an advantage for people that live in areas where this parasite is found. However, those specific changes (also known as mutations) in the APOL1 gene may also put people at increased risk of some genetic kidney diseases.

People with two copies of the APOL1 gene with certain mutations have a higher risk of developing a severe kidney disease called focal segmental glomerulosclerosis (FSGS).

FSGS is a severe kidney disorder that causes high levels of protein in the urine, or proteinuria. This can lead to symptoms, including swelling in the legs and/or feet and weight gain. The disease may eventually lead to kidney failure, which generally requires patients to be on dialysis or a have a kidney transplant. FSGS in people with two copies of the APOL1 gene is called APOL1‐mediated FSGS and may progress more rapidly than other forms of FSGS.

At Vertex, we work on diseases where there is high unmet need for new treatments, such as APOL1‐mediated FSGS. Our scientists are using their understanding of APOL1 biology to research potential investigational treatments. One of our investigational drugs for APOL1‐mediated FSGS is currently being studied in a clinical trial of adults of African, Caribbean, or
Latin American descent between the ages of 18 and 65 with specific APOL1 gene variations and biopsy‐confirmed FSGS. The investigational treatment being studied is not yet approved for use by the Food and Drug Administration (FDA) in the United States or other regulatory agencies in the UK, Europe, or elsewhere. You can read more about it here: https://fsgs.apol1studies.com/see‐if‐you‐may‐qualify.

At Vertex, we are eager to work with and grow our relationships with the kidney disease community. 

Learn more about Vertex at vrtx.com.

Sponsored by Vertex Pharmaceuticals Incorporated.