BHM Winter 2024 Summit Rewind: Understanding Genetic Kidney Disease and Its Impact on the Black Community: Insights into the APOL1 Gene

Understanding Genetic Kidney Disease and Its Impact on the

 Black Community: Insights into the APOL1 Gene

Presented by:

Dr. Stacy A. Johnson

Sponsored by Vertex

Dr. Stacy A. Johnson addressed an engaged crowd on kidney disease, a subject “near and dear” to her heart. As the Medical Director of Vertex Pharmaceuticals, Johnson helps develop innovative treatments using research. According to a study published by Johns Hopkins in 2020, “Black Americans experience kidney failure at three times the rate of whites.” Dr. Johnson explained what kidneys are, their desired function, ways to identify that they have been compromised, and potential genetic components of kidney issues that could disproportionately impact Black people.

What are the kidneys?

Dr. Johnson explained that the organs provide important functions in the body. “They work twenty-four hours a day, seven days a week, every day to filter and clean your blood,” she said. “The kidneys get rid of excess fluid, they get rid of excess waste, they help balance electrolytes.”

The doctor’s presentation helped the audience understand what the organs look like and how they fit into the body’s systems. She described one portion of the organ as a sort of tennis racket. “Think of that as a filter,” she said. “You want a filter because your blood contains things you want to keep and other things you want to get rid of. So you can’t just have a structure that lets everything out.”

What are some of the symptoms of kidney disease?

“Sometimes the kidneys get damaged, and when they don’t work properly, you start to see some signs that you can tell that the kidneys are not working properly,” she said. Fatigue and perceived weight gain can be signs. “So one of the signs that the kidney is not working properly is accumulation of excess fluid. This might show up as swelling in your legs. It may even show up as high blood pressure because your kidneys are not removing extra salt. Then, the other thing that happens is that when that tennis racket-looking filter gets damaged, it can no longer do its job properly. So instead of keeping the good stuff like protein inside your body, it spills the protein into the urine, which is not what you want.”

Kidney disease is progressive, meaning it accelerates. “It progresses. Eventually, it can get to the point where you need to have dialysis or a kidney transplant to survive,” said the doctor.

How common is kidney disease?

Dr. Johnson revealed how common kidney disease is. “The CDC estimates that approximately one in seven adults has chronic kidney disease,” she told the audience. She acknowledged that the disease can be lying dormant, threatening unsuspecting sufferers. “The dangerous thing is that of the people, of the 37 million or so adults who have chronic kidney disease in the US, nine out of ten of them don’t even know they have it.” She shared conditions that can lead to kidney disease, including diabetes, high blood pressure, and auto-immune diseases.

What kind of research is being done on kidney disease in the Black community?

Dr. Johnson shared insights into the research on the APOL1 Gene. She outlined risk variants. “Among African-Americans, the people who had the most severe type of kidney disease actually also had these changes in their DNA,” she said.

How You Can Take Action:

The session provided valuable tips for preserving your kidney health.

•  Pay attention! Inspect changes in your body so you can accurately describe them to your doctor.
• Learn about the therapies available. If you are experiencing kidney issues, do not assume that only one treatment works for you.
• Ask your healthcare provider about the research on the APOL1 Gene and what you need to know.