I'm Edward Adams of Bloomberg Media Studios. Since you're a subscriber to Bloomberg BusinessWeek, we thought you'd be interested in a six episode sponsored content podcast called Targeting the Toughest Diseases. It shows how the battle against some of humanity's most challenging diseases is happening at the intersection of business and medicine. Here's a full episode featuring NBA great Alonzo Mourning recounting his fight against kidney disease.
Miami Arena, March twenty ninth, nineteen ninety six. The Miami Heat are facing the Washington Bullets all night long. Alonzo Morning of the Heat has been guarded by a giant of a man named George Morrissan. At seven foot seven, Morrisson is one of the fiercest players in the league, the tallest player in NBA history, an impenetrable wall with a NonStop motor, but Alonzo Morning is one of the
greatest ever to step on the court. When the final buzzer goes, the Heat have won one hundred and twelve to ninety three, and Morning has scored an incredible fifty points. That game was a career high for Morning. He would go on to be a seven time All Star and a gold medalist in the two thousand Olympics, But little did he know his toughest opponent was yet to come.
After returning from the Olympics in Sydney, morning started into his usual off season training, but he noticed something was wrong.
I was experiencing lethargy, edema in my legs, swelling and my lower extremities. Extremely tired, worn out.
He thought it was jetlag, maybe the flu. He figured he'd just take a couple days off then resume his training. His doctor had a different idea. He suggested they run some tests.
I answered the phone next to the bed and he said, you know, I got your results back. He said that you've got this rare genetic disorder called focal segmental glamary los carosis. And I said, Doc, what is that? He said, It's a disease that scars the filters in the kidney.
Focal segmental glamory you losclerosis or FSGS causes scar tissue to develop on the small parts of the kidneys that filter waste from the blood.
I asked them three questions. I said, is there a cure for this? He said, no, I said, can I play basketball again? He said, I don't know, And then I said, well, am I going to die?
Hi?
I'm Jordan Gospore. I'm a member of the University of Southern California's Center for Health Journalism. This is Targeting the Toughest Diseases a podcast produced by Bloomberg Media Studios and Vertex Pharmaceuticals. In this series, we look at some of humanity's most challenging diseases and how Vertex, a Boston based biotech company, is using innovative tools, methods, and a unique
philosophy to search for treatments and cures. Today, we're looking at apol one mediated kidney disease, a disease caused by a genetic abnormality, one that thirteen percent of African Americans carry. This abnormality can cause a number of types of kidney diseases, one of which is FSGS, the condition alonzo morning was diagnosed with.
I thought to myself, not why me, but why right now? God? Why am I dealing with dish right now? Of all times. I had just come back from the Sydney, Australia Olympics win in the gold medal. I had just come off from an amazing basketball season where I had first team All NBA All Star Team. The list goes on, you know, all the accolades, and then all of a sudden, bam. This happens.
Lots of young professional athletes view themselves as invincible. Alonso suddenly found out he wasn't hung off the.
Phone and my face fell in my hands. I felt like I was gonna play till I was in my forties because I was in such great shape. Just airing it from somebody saying hey, you got to stop playing. It was humbling and it was deflating. Yeah, and I just was just sitting there just trying to figure out, Okay, how is this all going to materialize?
We can't survive without our kidneys. They played a vital role. They help our bodies maintain just the right balance of electrolytes like potassium, They control blood pressure, they cleaner blood, and they even help maintain our hormone levels. Each kidney is made up of a million or so tiny filters called gloomerulie. They're like little coffee filters. The filtered liquid becomes urine and the protein left behind stays in our blood.
But when the glomerulaie become damaged, those proteins start leaking into the urine. The scary thing is it's estimated thirty seven million adults in the United States have kidney disease, and ninety percent of them don't even know they have it. And in the case of apol one mediated kidney disease, the prime causal factor is invisible. It's genetic caused by
mutations in the apoel one gene. Back in the early nineteen nineties, doctor David Friedman, a doctor researcher and an associate professor with Harvard Medical School who currently works with Vertex on its clinical trials, first started to notice something unusual. He was seeing African American families where multiple members all had kidney disease.
When there's an important inherited component of a disay disease, it tends to cluster in families.
Understanding there was a genetic cause was just the beginning. Next, they had to find the exact gene.
I think a real breakthrough in our understanding came in two thousand and eight when some teams at Johns Hopkins and the NIH were the first to find a location in the genome. My chromosome twenty two, where it became apparent that there was something strong that was impacting kidney disease in people of African ancestry.
Then in twenty ten, doctor Friedman and his colleagues identified the specific mutations that led to this type of kidney disease.
There were two important advances in technology which really helped us to pinpoint these two genetic variants in April one. The first was related to tools for identifying positive selection in the genome, and these mathematical tools helped us in vision the genome in a slightly different way. And the second major technological advance was a database of genetic variants in people of widely diverse ancestries called the Thousand Genomes Project.
Up until that time, most of what we knew about genetic variation came from people of European ancestry, and this new, very powerful tool was a really equivalent of an encyclopedia of genetic variation around the world.
From there, our understanding of apol one has continued to increase, including why the risk variants in this gene only affect people of recent African descent, including African American, LATINX and Afro Caribbean communities. Thousands of years ago, a genetic mutation in the apol one gene developed in Sub Saharan Africa as a protective mechanism.
We all have a gene that encodes for or the april one protein, but the version which causes kidney disease contains some very slight changes in the instructions for building that protein that turn out to make it very effective for killing the trapanosomes that cause African sleeping sickness in humans.
Sleeping sickness is a disease spread by the bite of an infected fly, and it can cause death within a matter of weeks. But this genetic mutation stops it in its tracks.
Because it was so effective, it spread very quickly in the population. But it's these proteins with a slightly different version of april one. It's very very effective for killing trypanosomes and preventing African sleeping sickness, which is the same version of the protein which makes the kidneys of people sick who have this genetic variant.
We now understand that having one apo l one risk variant could protect you from many forms of sleeping sickness, but if you were unlucky enough to inherit too, one from your mother and one from your father. Your chances of getting kidney disease goes up tenfold, Doctor Fire, Doctor j. Once your kidneys start to fail, there really are only a few ways to stay alive. One is dialysis. It
replaces the function of the kidney. Doctor Janice Lee studies kidney disorders at Emory University School of Medicine in Atlanta, Georgia.
Kidneys excrete waste products, and they get rid of excess fluid from our bodies. So that's what the dialysis machine does.
Two needles are inserted into a patient's arm. One draws blood out and sends it through the machine to be cleaned. The other needle returns the clean blood back into the patient, which is pretty much exactly the way kidney's work, except while your kidney's work slowly. Twenty four hours a day, seven days a week. Dialysis means sitting in a chair plugged into a machine for two to three hours at a time, three times a week. It works, but it's not ideal if.
You really think about it. We go to the bathroom excrete our urine two or three four times or more a day. So when patients are in dialysis, they're really getting their blood cleansed just three days a week for a few hours, and so patients can feel washed out when they get off of dialysis because they've had all this fluid from two days worth of not excreting any waste products are fluid.
There's no cure available for chronic kidney disease. The medications currently on the market focus on making sure a person's kidneys don't deteriorate further. The current options include medications that suppress the immune system, diuretics, ace inhibitors or ARB medications to control blood pressure, or lower urine protein anticoagulants to prevent blood clots. And then there's the option Alonzo Morning
had done for his FSGS, a kidney transplant. That approach requires you to be fortunate enough to find a suitable donor. On average, it also only lasts ten to twelve years. Vertex Pharmaceuticals is a company that is researching apol one mediated kidney disease and other tough diseases where there's a huge unmet need. They are targeting conditions where the human biology is understood, the technology already exists, or Vertex thinks it can develop it and where Vertex has an approach
they think maybe transformative. They have several programs in their investigational research, including apol one mediated kidney disease. Doctor ogo Egbunna leads clinical development for the team researching kidney disease at Vertex.
As we speak here in the US, there probably more than one hundred thousand people waiting for a kidney, and not everyone is fortunate to be able to get one. Many people will die waiting for a kidney.
The staggering number of people living with and dying from kidney disease is one of the main reasons why doctor ed Buna joined Vertex's efforts.
It was really heartbreaking, you know, at the beginning of the year, I'd have a whole host of patients on dialysis and at the end of the year, one or two out of every three would have, you know, passed on. That was just too depressing for me.
Why did Vertex choose to focus on a pall one versus other types of kidney disease.
This is actually one of the most difficult kidney diseases that have lagued a minority population and underserved population for so long and for the longest time we have attributed this to either a bad diet or lack of ex size or nutrition, but we do know now that there is a genetic basis for a lot of this disparity.
And I think in typical Vertex fashion, we go after diseases that have a serious unmet need, and in addition to that, we go after diseases where the underlying cause is well understood and for which we apply the best science available to try and address it.
What can we look forward to.
Part of the reason why I'm actually so excited about what we're doing here at Vertex is because we have found small molecule therapies that are investigational to the underlying cause of what I've described as equal one mediated kidney disease. We have evaluated these potential therapies in experimental settings and first in human studies as well as a preliminary proof of concept study in patients.
Developing a potential small molecule therapy is no easy feat, doctor ed Buna, says scientists a Vertex have gone through hundreds of thousands of candidate molecules in their kidney disease research.
Nothing good or great comes easy. Therein lies the promise and the excitement While.
Their research continues. Doctor Egbunna says he and his team at Vertex will do everything they can to raise awareness for the disease. That includes educating on preventative measures like genotyping, which can help determine whether a patient carries the apol one genetic variant.
So, in addition to supporting the clinical community on patients in increasing the rates of diagnosis of kidney disease, we also want an increase in the awareness and of genotyping so that precise diagnosis can be made so that the right therapy can be brought to the patient. Dollons of Money is one of those great examples of people that went through the science, symptoms, the worries, the challenges of n stage advanced kidney disease. I stunding and he got back on his feet.
Alonzo Morning underwent a kidney transplant three years after his initial diagnosis.
So the recovery process was grueling and it was extremely painful at times, and it was difficult. But if you think about anything in life worth having, it's very difficult to get it. And I was trying to get my help back in. I was trying to get back on the court, So I was trying to get back to some sense of normalcy, but it challenged me tremendously, and it really truly challenged me.
Morning talks about his struggle to get and then adapt to living with a new kidney, knowing full well that he had a lot of advantages.
That was in optimal condition, excellent health, you know, but that was the benefit of my recovery so fast, because the doctors told me, like, hey, you know, if you wasn't this high performance athlete, then you probably wouldn't have bounced back as fast after the transplant.
And bounce back he did. Just three years after his transplant. Alonso Morning would go on and win a championship with the Miami Heat in two thousand and six, and today he's partnering with Vertex as a spokesperson, using his profile and his experience to advocate and educate.
You know. A big part of it is to try to inspire and provide hope and encouragement for those who are going through the same ordeal.
And Morning says he's hoping Vertex will be able to help kidney patients by raising awareness of the disease, encouraging people to visit their doctor and continuing to search for a potential treatment.
So if this can happen, then all of what I've gone through is so much more of a worthwhile because I'm able to help save other people's lives.
This is Targeting the Toughest diseases. A podcast from Bloomberg Media Studios and Vertex Pharmaceuticals. If you like what you hear, subscribe and leave us a review. I'm Jordan Gospore. Thanks for listening.