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Targeting APOL1, a genetic cause of severe kidney disease

Targeting APOL1, a genetic cause of severe kidney disease

Sponsored by Vertex Pharmaceuticals Incorporated

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 human trypanosomiasis, or “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 variants) in the APOL1 gene may also put people at increased risk of some forms of genetic kidney disease.

People with two copies of the APOL1 gene with certain variants may have a higher risk of developing APOL1-mediated kidney disease, which can have various clinical presentations including, but not limited to, focal segmental glomerulosclerosis (FSGS) and non-diabetic kidney disease.

APOL1-mediated kidney disease causes high levels of protein in the urine, or proteinuria. This can lead to various symptoms, including swelling in the legs and/or feet and weight gain. The disease may eventually lead to kidney failure, the treatment of which generally requires dialysis or a kidney transplant. APOL1‐mediated kidney disease may progress more rapidly than other forms of kidney disease.

At Vertex, we work on diseases where there is high unmet need for new treatments. Our scientists use their understanding of APOL1 biology to research and discover potential medicines with the goal of treating the underlying cause of APOL1-mediated kidney disease.

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

Learn more about Vertex at vrtx.com.