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Taysha Gene Therapies Receives Rare Pediatric Disease Designation and Orphan Drug Designation for TSHA-102 as a Treatment for Rett Syndrome

Program leverages novel miRARE platform technology used to control transgene expression on a cellular basis

TSHA-102 anticipated to submit Investigational New Drug application in 2021

Taysha Gene Therapies Inc. (Nasdaq: TSHA), a patient-centric gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system in both rare and large patient populations, today announced that it has received rare pediatric disease designation and orphan drug designation from the U.S. Food and Drug Administration (FDA) for TSHA-102, an AAV9-based gene therapy in development for the treatment of Rett syndrome. Taysha anticipates that it will submit an Investigational New Drug (IND) application for TSHA-102 to the FDA in 2021.

Rett syndrome is one of the most common genetic causes of severe intellectual disability worldwide, with a prevalence of over 25,000 cases in the U.S. and European Union (EU). It is an X-linked disease that primarily occurs in females, but it can be seen very rarely in males. It is usually recognized in children between six to 18 months of age as they begin to miss developmental milestones or lose abilities they had developed. Individuals with Rett syndrome also show symptoms that include loss of speech, loss of purposeful use of hands, loss of mobility, seizures, cardiac impairments, breathing issues and sleep disturbances.

“Patients with Rett syndrome are currently managed with symptomatic treatments as there are no therapies approved to treat the underlying cause of disease,” said Berge Minassian, M.D., Chief Medical Advisor of Taysha and Chief of Pediatric Neurology at the University of Texas Southwestern Medical Center (UT Southwestern). Dr. Minassian is credited with describing the CNS isoform of the MECP2 gene which is responsible for neuronal and synaptic function throughout the brain. “Gene therapy offers a potentially curative option for patients suffering with Rett syndrome.”

Rett syndrome is caused by mutations in the MECP2 gene. TSHA-102 is designed to deliver a healthy version of the MECP2 gene as well as the miRNA-Responsive Auto-Regulatory Element, miRARE, platform technology to control the level of MECP2 expression. “TSHA-102 represents an important step forward in the field of gene therapy, where we are leveraging a novel regulatory platform called miRARE to prevent the overexpression of MECP2,” said Steven Gray, Ph.D., Chief Scientific Advisor of Taysha and Associate Professor in the Department of Pediatrics at UT Southwestern. “In collaboration with Sarah Sinnett, Ph.D. to develop miRARE, our goal was to design a regulated construct that allowed us to control MECP2 expression to potentially avoid adverse events that are typically seen with unregulated gene therapies.”

The FDA defines a rare pediatric disease as a serious or life-threatening disease in which the disease manifestations primarily affect individuals aged from birth to 18 years. Pediatric diseases recognized as “rare” affect under 200,000 people in the U.S. The Rare Pediatric Disease Priority Review Voucher Program is intended to address the challenges that drug companies face when developing treatments for these unique patient populations. Under this program, companies are

Executive Medicine of Texas puts the Spotlight on Alzheimer’s Disease

Deaths from Alzheimer’s disease are increasing exponentially, but gaining little attention from the general public due to the Covid19 pandemic and other issues. Executive Medicine of Texas is working diligently to change the narrative and place focus on education and prevention of this terrible disease. Their first move, is hosting the first Alzheimer’s and the Arts Event, which will showcase the film “Have You Heard about Greg?”

DALLAS (PRWEB) October 13, 2020

According to the Alzheimer’s Association, since the year 2000, deaths from Alzheimer’s have increased by 146%. This is while deaths from heart disease have decreased by 7.8%. Alzheimer’s Disease is the sixth leading cause of death in the US, claiming more lives than breast cancer and prostate cancer combined.

“Our patients are concerned about their brain health and so are we,” says Mark Anderson, MD and one of the founders of Executive Medicine of Texas. “Years ago we made cognitive testing part of our routine executive exams. Shockingly, we’ve seen a significant number of patients, younger than ever, who are complaining of some sort of cognitive disruption. As a physician, it’s alarming.”

The Alzheimer’s and the Arts Event is the first of many efforts that Executive Medicine of Texas will be pushing to raise awareness for the disease. “This is a special event,” states Judy Gaman, their CEO, “because we’re focusing on education while raising money for the Alzheimer’s Association and the Guzman 23 Foundation.” Gaman, who knows from family experience just how devastating this disease can be, is championing the effort. “Having people like Steve Ecclesine, Greg O’Brian, and Warren Honeycutt involved so heavily in the Alzheimer’s and the Arts event brings it to a whole new level.

Steve Ecclesine, a Hollywood producer with over 700 films and TV shows to his credit is the producer of the film Have You Heard about Greg? He will be at the event for a Q&A session directly following the premier event. The film, showcasing the life of Greg O’Brian as he battles Alzheimer’s, has not yet been released. “I’m very interested to receive feedback from the audience and share the story of how this documentary came to be. Out of all the films I’ve worked on, this one is near and dear to my heart.” Those attendees who wish too will receive a chance to give on-screen testimonials about the films impact that will become part of the films marketing efforts.

Greg O’Brian’s highly acclaimed internationally award-winning book On Pluto: Inside the Mind of Alzheimer’s, is the first book written by an investigative reporter who’s actually inside the mind of Alzheimer’s. Much like the book, the film, Have You Heard about Greg? shows what Greg and others have learned about the disease and uses science, faith, hope, and humor to broach a topic that needs much more attention.

Warren Honeycutt, six-time Mr. America Fitness finalist, media fitness expert and author of the book How the Health Are You? has also worked tirelessly on this project and will be at

Finding breast cancer early through screening major tool for beating disease

Breast cancer is the second most common cancer diagnosis in the United States. Dr. Srinath Sundararajan, an oncologist and hematologist with Texas Oncology-Katy, says early detection saves lives and that screening is important, even during the pandemic.

“Delaying cancer screenings will lead to detecting cancer at a later stage, and definitely that leads to more aggressive disease, more lengthy treatment and an increased healthcare cost,” Sundararajan said. “Cancer when identified early, there is a better chance of it being a curable cancer and better chance of having less intensive treatment. Screening cancer and finding it early is the single most effective way of improving cancer survival rates.”

He explained that since the 1980s, advances in breast cancer treatments have improved mortality rates, but screening has played a major role because it allows patients to seek treatment earlier in the disease.


While Sundararajan said mammograms are the main breast cancer detection tool, women talking with their health care providers about how to do a proper self-breast exam can enhance their breast health awareness and act as another tool. He said they should look for unusual changes in their breasts, including lumps, changes in the contour of the nipple, skin color changes, puckering of the skin or a new nipple discharge that occurs without apparent reason. Women should seek immediate medical attention with their health care provider if any of these symptoms occur.

While the age that a woman should get her first mammogram depends on several factors such as family history, Sundararajan explained that a woman with average risk should have a discussion with her doctor when she is between 40 and 50 years old. He said the frequency for mammograms will vary based on the results of that first one. Women should certainly have mammograms from age 50 to age 75, Sundararajan said.

The pandemic has had a large impact on cancer. A study showed that diagnoses of breast, cervical and colon cancer were down about 90 percent at one point. Sundararajan said the numbers have improved but are still down overall by about 30 percent since before COVID-19.

“It doesn’t mean that cancer was not happening or that new cancer was not occurring during those times,” he said. “Those are all missed diagnoses, which would probably impact them later in the future. Once they’re diagnosed, they might be at a later stage.”

Sundararajan explained that 90 to 95 percent of patients whose breast cancer is detected early respond well to treatment and are still living five years later. Those survival rates decrease when the cancer is found later.

Sundararajan emphasized that it is safe to go out for cancer screenings. He said clinics, diagnostic offices and doctors’ offices are taking precautions so that people do not catch or spread the novel coronavirus. Many medical facilities require masks and temperature checks to enter and are

Trump’s rapid recovery from Covid-19, while welcome, ‘amplifies’ public misunderstanding of disease

Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases, speaks during a House Select Subcommittee on the Coronavirus Crisis hearing in Washington, D.C.

Erin Scot | Pool | Reuters

Health officials have struggled to convey the seriousness of Covid-19 to many Americans. President Trump’s rapid recovery from the disease, while welcome by all, makes the challenge even more difficult, Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases acknowledged.

Trump’s quick bounce-back from his infection will likely underscore the mistaken belief some people have that the disease does not present significant health risks, Fauci said in an interview with STAT.

“We’re all glad that the president of the United States did not suffer any significant consequences of it,” Fauci said. “But … because he is such a visible figure, it amplifies some of that misunderstanding that people have that it’s a benign disease and nobody has anything to worry about.”

More from STAT News:

The wide range of clinical manifestations of the disease — some people experience no symptoms, while others have everything from flu-like symptoms to life-threatening and even fatal pneumonia and blood clots — makes conveying the dangerousness of Covid-19 incredibly challenging, he said.

“It’s just a lot of understandable mixed signals, that it’s either serious or it’s not serious. It’s deadly or it’s not deadly. To me, that’s been the bane of trying to get a message across to people,” he said.

“It’s a problem that goes well beyond the president’s illness.”

Trump, who was considered at high risk of having severe Covid-19 because of his age, weight, and sex, was hospitalized for four days earlier this month after testing positive for the SARS-CoV-2 virus, which causes Covid-19. First lady Melania Trump also tested positive for the virus; White House doctors described her case as milder than the president’s. She did not need to be hospitalized.

The president required supplemental oxygen on at least two occasions before he was taken by helicopter to Walter Reed National Military Medical Center on Oct. 2. In the four days he was there, Trump was treated with an experimental antibody cocktail, the antiviral drug remdesivir, and the steroid dexamethasone.

He has since resumed work, holding a rally Monday in Florida where he declared himself to be immune to Covid-19, and heading to Iowa, a Covid-19 hot spot, on Wednesday. He has also tweeted that people should not let fear of the disease run their lives, asserting that he feels better now than he did 20 years ago.

Trump also continues to insist the virus will soon disappear, even though daily infection numbers are climbing in most parts of the country. So far in the pandemic, more than 7.8 million Americans have been infected and more than 215,000 have died.

Since movement restrictions were eased in the summer, many cases have occurred in young adults, a demographic group that rarely dies from the disease. Fauci and others have struggled to find a way to persuade people

11-year-old with rare cancer blogs to show good and bad sides of disease

When Nevaeh Williams was just 8, she was diagnosed with an extremely rare cancer. Doctors were unsure if she’d ever be cancer-free, but the treatment worked and she enjoyed two years playing softball, enjoying math class with friends and just being a kid. This August, a scan revealed the cancer had returned and her mom, Alana Simmons-Williams, was distraught.

“I’ve always had a little bit of anxiety when it would be time for scans but the anxiety was starting to ease,” Simmons-Williams, 34, who lives outside of Savannah, Georgia, told TODAY. “At her two-year scan (the doctor) told me the cancer came back. I was devastated, like heartbroken. I want to say it was worse than hearing it the first time.”

For two years, Nevaeh enjoyed life like any other child her age. But at recent scans, she and her family learned her rare cancer had returned. (Courtesy Nevaeh's Victory Against Cancer)
For two years, Nevaeh enjoyed life like any other child her age. But at recent scans, she and her family learned her rare cancer had returned. (Courtesy Nevaeh’s Victory Against Cancer)

But Nevaeh, now 11, had a different reaction.

“For her going through it a second time, she’s like, ‘OK, the first time they told me I wasn’t going to be able to be cancer-free at all and I did it. I beat it,’” Simmons-Williams said. “She wanted to blog her journey … She was like, “I want to record it this time. I want to show everyone what it’s like.’”

A shocking diagnosis

One day when Nevaeh was 8, she was doing a cartwheel when Simmons-Williams noticed her daughter’s stomach was bloated. Simmons-Williams asked her daughter if she felt sick or was constipated, but Nevaeh felt fine. They visited their pediatrician who recommended they go to the emergency room.

At first doctors believed Nevaeh had Ewing sarcoma, a cancer that affects the bones. But Simmons-Williams didn’t think that’s what Nevaeh had and pushed for another opinion.

“She didn’t have any problems with her bones. She just had a tumor in her stomach and tumors throughout her chest wall,” she said. “That’s when it was revealed that it was desmoplastic small round cell tumors.”

Desmoplastic small round cell tumors are so rare that there are only 200 known cases of it since 1989, according to the National Cancer Institute Center for Cancer Research.

“There is no standard treatment plan for DSRCT,” Simmons-Williams explained. “They commonly use the treatment plan that they use for Ewing sarcoma.”

Nevaeh, 11, gives her social media followers an unfiltered look about what having cancer is like. She finds strength in the support she receives. And, they learn more about cancer. (Courtesy Nevaeh's Victory Against Cancer)
Nevaeh, 11, gives her social media followers an unfiltered look about what having cancer is like. She finds strength in the support she receives. And, they learn more about cancer. (Courtesy Nevaeh’s Victory Against Cancer)

They removed the mass in Nevaeh’s stomach, which was three pounds, and she also underwent hyperthermic intraperitoneal (HIPEC) treatment where doctors fill the abdomen with warm chemotherapy drugs to “wash” it. While she remained cancer-free for two years, doctors spotted a recurrence during her most recent scans and she began treatment in August.

“She doesn’t give up that easy,” Simmons-Williams said. “She has positive vibes.”

Vlogging through cancer

Before the cancer returned, Nevaeh’s hair had started growing

Gottlieb predicts “a lot of death and disease” before end of the year as COVID cases rise

Washington — With the number of confirmed coronavirus cases continuing to rise in states across the country, Dr. Scott Gottlieb, the former commissioner of the Food and Drug Administration, warned that there is going to be “a lot of death and disease” from now until the end of 2020.

“We’re in a difficult situation heading into the fall,” Gottlieb said Sunday on “Face the Nation.” “I think the only caveat is in terms of us being better prepared for this wave, is that we have dramatically improved clinical care in hospitals. So I think we’re going to have better outcomes overall, but we’re still going to have a lot of death and disease between now and the end of the year.”

There have been more than 7.7 million confirmed cases of the coronavirus in the U.S., and 15 states have a positivity rate above 10%. Forty states have an expanding epidemic, Gottlieb said, and hospitalizations are also rising.

In looking ahead to how the country will fare in the weeks ahead, Gottlieb predicted the U.S. is “going to face a difficult fall and winter.”

“What we thought might be just a bump after Labor Day clearly is a resurgence in a virus heading into the fall and the winter,” he said. “You’re seeing cases build across the entire country.”

The coronavirus swept through the halls of the White House this month, as President Trump, first lady Melania Trump and at least two dozen people in the president’s orbit have tested positive for COVID-19. Mr. Trump spent three days at Walter Reed National Military Medical Center receiving treatment for the coronavirus, which included a dose of Regeneron’s antibody cocktail, which he has since heralded as a “cure” for the virus.

On Saturday, White House physician Dr. Sean Conley said the president is “no longer considered a transmission risk to others,” but did not specify whether Mr. Trump has tested negative for the coronavirus.

Gottlieb, however, said the president will likely not test negative for “a period of time.”

“We know that people continue to shed virus for a long period of time, but that’s dead virus,” he said. “It’s a virus that doesn’t grow in a culture, can’t really pass on the infection. There are indications that the president’s no longer infectious.”

Gottlieb added it’s safe to assume Mr. Trump is no longer contagious, as he has been symptom-free for several days and has not had a fever for more than 24 hours.

“I think the question now is, has his health been restored?” he said. “And we know that a lot of patients have lingering effects from COVID.”

Source Article

Women’s Reproductive Health Tied to Later Heart Disease | Health News

By Robert Preidt, HealthDay Reporter

(HealthDay)

FRIDAY, Oct. 9, 2020 (HealthDay News) — Pregnancy complications, including preeclampsia and miscarriage, may be linked to an increased risk of heart disease later in life, a new study suggests.

For the study, the researchers analyzed 32 reviews that assessed women of childbearing age and their subsequent risk of heart disease. The women in those papers were followed for an average of seven to 10 years.

Several reproductive factors were linked with an up to twofold risk of heart disease later in life: starting periods early; use of combined oral contraceptives; polycystic ovary syndrome; miscarriage; stillbirth; preeclampsia; diabetes during pregnancy; preterm birth; low birth weight; and early menopause.

In addition, preeclampsia was associated with a fourfold risk of heart failure.

Family medical history, genetics, weight, high blood pressure and cholesterol levels, and chemical imbalances from use of hormonal contraceptives are among the possible explanations for these associations, according to study author Krishnarajah Nirantharakumar, a senior clinical lecturer at the University of Birmingham in the United Kingdom, and colleagues.

There was no association between heart disease risk and current use of progesterone-only contraceptives, use of non-oral hormonal contraceptive agents or fertility treatment, the study authors noted.

More time breastfeeding was associated with a lower risk of heart disease, according to the report published online Oct. 7 in the BMJ.

Previous research has suggested that women may have specific risk factors for heart disease and stroke, but there were questions about the quality of evidence, the study authors said in a journal news release.

The new report doesn’t prove cause and effect, but the findings indicate that reproductive factors do influence women’s future risk of heart disease. The researchers suggest that women’s health care guidelines be updated to include reproductive risk factors as part of the risk assessment for heart disease.

Copyright © 2020 HealthDay. All rights reserved.

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Reflow Medical Receives Approval in Japan for the Wingman Catheter to Cross Chronic Total Occlusions (CTOs) in Peripheral Artery Disease

Reflow Medical, Inc., a California-based medical device company, announced that Japan’s Pharmaceuticals and Medical Devices Agency (PMDA) has approved the Wingman™ CTO Catheter. Reflow Medical has partnered with Century Medical, Inc. (CMI), a leading medical device distributor based in Tokyo, to introduce the Wingman CTO Catheter in Japan.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20201008005741/en/

Wingman CTO Catheter (Photo: Business Wire)

The Wingman Catheter crosses peripheral CTOs using an extendable beveled tip. The physician controls the advancement and activation of the tip to create a channel to help penetrate, or cross, the occlusion with a guidewire, enabling further treatment of the lesion with therapeutic devices. The catheter is compatible with the physician’s preferred guidewire and procedural technique.

Approval by Japan’s PMDA follows the completion of the Wing-IT CTO clinical trial, a prospective, international, multicenter study that treated 85 patients and followed them for 30 days. The Wingman Catheter was able to demonstrate a 90% crossing rate when up to two previous guidewires could not cross the CTOs, meeting its primary safety and efficacy endpoints.

“We are very excited to launch the Wingman CTO catheter in the Japanese market,” said CMI President and CEO Takahiko Motani. “This product should have a significant impact on the Japanese peripheral market by helping physicians address specific treatment challenges within a growing patient population. We look forward to providing this new and unique device in partnership with Reflow Medical, Inc.”

“Reflow Medical focuses their efforts on developing technologies based on physicians’ needs,” said John R. Laird, MD, of Adventist Heart and Vascular Institute in St. Helena, California. Dr. Laird was the principal investigator for the study. “We rely on Reflow for real clinical evidence when utilizing the technology.”

“It is an honor for our device to have gained approval by Japan’s PMDA,” noted Reflow Medical Co-founder and CEO Isa Rizk. “We are grateful for the opportunity to partner with a fantastic organization like Century Medical.”

Reflow’s Wingman Crossing Catheter received clearance from the U.S. Food and Drug Administration for the expanded CTO indication for the Wingman Crossing Catheter in March 2020 after completing the Wing-IT clinical trial.

About Reflow Medical, Inc.

Reflow Medical, Inc. is a private company focused on empowering physicians through the design and development of innovative and effective technologies for cardiovascular disease. Reflow is developing a family of products to treat cardiovascular disease.

About Century Medical, Inc.

Century Medical, Inc. (CMI) is one of the largest independent medical device distributors in Japan, with more than 40 years of experience marketing medical devices. CMI has been a pioneering force, successfully introducing many new technologies to the Japanese healthcare community. Century Medical, Inc, is a wholly owned subsidiary of ITOCHU Corporation.

About Chronic Total Occlusions (CTO) in Peripheral Artery Disease (PAD)

Chronic total occlusions (CTO) of the lower extremities are found in 40% of symptomatic peripheral artery disease (PAD) patients. Endovascular options for the treatment of a CTO can be complex; conventional wire and catheter technique have a

Coffee may reduce risk for Parkinson’s disease, study says

Caffeine may reduce the risk of Parkinson’s disease in people who have a gene mutation associated with the movement disorder, researchers report.

“These results are promising and encourage future research exploring caffeine and caffeine-related therapies to lessen the chance that people with this gene develop Parkinson’s,” said study author Dr. Grace Crotty, of Massachusetts General Hospital.

“It’s also possible that caffeine levels in the blood could be used as a biomarker to help identify which people with this gene will develop the disease, assuming caffeine levels remain relatively stable,” Crotty added in a news release from the journal Neurology.

The study was published online in the journal.

Previous studies have shown that caffeine may protect against Parkinson’s in people with no genetic risk factors. This new study focused on a mutation in the LRRK2 gene that increases the risk of Parkinson’s.

Not all people with this gene mutation develop Parkinson’s disease, so scientists are trying to pinpoint other contributing genetic or environmental factors.

Could coffee — or its lack — be one of them?

This study compared 188 people with Parkinson’s disease to 180 people without the disease. Both groups had people with and without the LRRK2 gene mutation.

Among people with the gene mutation, those with Parkinson’s had a 76% lower concentration of caffeine in their blood than those without Parkinson’s. Among people without the mutation, those who had Parkinson’s had a 31% lower concentration of caffeine in their blood than those without Parkinson’s.

People with Parkinson’s who had the gene mutation consumed 41% less caffeine a day than the people with and without the gene mutation who didn’t have Parkinson’s.

The study assessed people at one point in time, so it doesn’t help researchers understand any long-term effect caffeine may have on Parkinson’s risk or how it may affect the disease’s progression, Crotty noted.

Also, the study doesn’t prove that caffeine consumption directly reduces the risk of Parkinson’s it only shows an association.

More information

The Parkinson’s Foundation has more on Parkinson’s disease.

Copyright 2020 HealthDay. All rights reserved.

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Precision medicine uses multiomic details to battle kidney disease

September 10, 2020

6 min read


Source/Disclosures



Disclosures:
Bansal, Eadon, Jones-Smith, Kiryluk, and Sharma report no relevant financial disclosures.

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The value of precision medicine has been shown with the identification of the genetic causes of tumors that differ among patients. Applied to nephrology, precision medicine can offer an earlier look at the potential risk for kidney disease.

“Precision medicine is a personalized approach to disease management of the patient … The goal is to have the right dose, delivered at the right time, for the right patient,” according to Shweta Bansal, MD, an associate professor of nephrology at the University of Texas-San Antonio School of Medicine. “It is not about one approach that fits all patients. It must be tailored.”

The treatment regimen is the last step in precision medicine, Bansal said. The work begins with the detection of the origins of disease through genomics.

“[NIH director] Francis Collins said it most straightforward. Precision medicine is the application of prevention and treatment strategies that take individual variability into account,” Michael Eadon, MD, assistant professor of medicine in the divisions of nephrology and clinical pharmacology at Indiana University School of Medicine, told Nephrology News & Issues. “There has always been an overarching connotation that genomic information, either from your genome or downstream applications like gene expression, would be integrated into evidence-based medicine.”

Kumar Sharma, MD, chief of nephrology and professor of medicine at the University of Texas-San Antonio, said research at the Center for Renal Precision Medicine will reveal the likelihood of chronic kidney disease early in high-risk individuals.

Source: Center for Renal Precision Medicine.

Genomic testing

Two examples of the application of genomics to detect the risk of end-stage kidney disease is research on the efficacy of the drug tolvaptan for patients with autosomal-dominant polycystic kidney disease (ADPKD) and the identification of risk variants in the apolipoprotein L1 (APOL1) gene that can lead to kidney disease.

In a study in Clinical Journal of the American Society of Nephrology, David J. Friedman, MD, and colleagues wrote that many types of severe kidney disease are higher in Black patients than in other patient groups. That disparity is attributed to genetic variants in the apoL1 (APOL1) gene found only in individuals with recent African ancestry, the authors wrote. “These variants greatly increase rates of hypertension-associated ESKD, [focal segmental glomerulosclerosis] FSGS, HIV-associated nephropathy, and other forms of nondiabetic kidney disease.”

Friedman and colleagues said the discovery of the APOL1 risk variants has led to discussions about incorporating genetic testing in the screening process for living kidney donors. Those with the APOL1 genomic makeup could pass