Short Wave - This Cellular Atlas Could Lead To Breakthroughs For Endometriosis Patients

Episode Date: July 19, 2023

For people with endometriosis—a mysterious disease where endometrial tissue grows outside of the uterus—medical visits can be especially frustrating. It takes some patients years (on average, ten years) to get a diagnosis and treatment options are limited. There are currently no cures. One researcher, Dr. Kate Lawrenson, is trying to change that. She and her team of researchers have created a cellular atlas of the disease and hope this cell-by-cell approach will open up doors for faster diagnosis options and better ways of managing it. In the meantime, she hopes that more people will learn about the disease in the first place.Want us to break down the science underpinning your health? Email us at [e-mail]!See pcm.adswizz.com for information about our collection and use of personal data for sponsorship and to manage your podcast sponsorship preferences.NPR Privacy Policy

You're listening to Shortwave from NPR. So back when Kate Lawrenceon was a PhD student, she was enrolling patients for a study and met someone who changed her life. This patient was a woman in her early 30s and was in a lot of pelvic pain. The patient didn't know why the pain was happening, but wanted a hysterectomy to remove their uterus altogether. She was having kind of almost like menopausal symptoms, lots of sweating and just lots of, I'd say, hormonal disruptions. And I was just so struck by the fact that this person wasn't going to have the opportunity to have a family, if that's what they had wanted. And it turned out the patient had endometriosis, a disorder Kate had never heard of before. Endometriosis is when cells that

resemble endometrial tissue, the tissue that makes up the inner lining of the uterus, grows outside the uterus on the ovaries or the fallopian tubes. Or perhaps on the bowel or the bladder. But it can even be found at more distant locations. And so we get people coming to our medical center who are having surgery for endometriosis in the lungs. And when the cells grow where they're not supposed to, there's no way for them to exit the body as menstrual blood. The cells become trapped, creating lesions. Doctors and researchers group endometriosis into four different stages, minimal, mild, moderate, and severe. But these stages only describe the lesion size and location. They don't describe the physical and mental toll of the disease, the flare-ups during your period, the cramping from the higher

levels of hormones. So someone can have stage one endometriosis and horrendous pain, debilitating pain, and someone can, you know, struggle to get pregnant, they're not having much pain, and then their endometriosis gets diagnosed, and it's, you know, stage three or four. An endometriosis may affect more than 10% of reproductive aged women. It's very common. It's a major cause of infertility and can increase a person's risk for ovarian cancer. Currently, there's no cure, only treatments to manage the symptoms like pain medication, hormone therapy, or surgery. And diagnosis can sometimes take years. The agony and frustration of Kate's patient really stuck with her, and Kate committed herself fully to researching this disease. The patient even donated cell samples

to allow Kate to do some early studies. Though endometriosis is very common, we still don't know a lot about what causes endometriosis. We know it can run in families. And people without a uterus can have endometriosis too. So we think that there might be other ways this disease can develop. Maybe there are cells in other parts of the body that can change into different things.

They can metamorphosize into cells that look like the uterus. And it's a mystery that Kate works on, now, as an associate professor at Cedar Sinai and co-director of the women's cancer research program. Kate and her research team have created a giant atlas of endometriosis after analyzing 400,000 individual cells from different patients. This is the same kind of fine-grained work that has led to breakthroughs for cancer diagnosis and treatment. We can't ignore conditions like this that are really robbing us of, you know, many talented women who can't reach their full potential. because of this disease that we just haven't studied well enough to be able to treat it effectively. Today on the show, putting endometriosis on the map.

I'm Emily Kwong, and you're listening to Shorewave from NPR. Here's the thing. We don't know a lot about endometriosis, and that's because we lack data at the cellular level. A deeper understanding would require better tools. And that's why Kate and her research team are hyped about the future of single-cell genomics. This technology allows them to. investigate tissue samples from endometriosis patients in detail, capturing the fingerprint of each cell. And so this has been a real game changer for diseases such as endometriosis, where there are

lots of different cell types conspiring to cause that disease. A decade ago, this kind of analysis wasn't even possible. The best researchers could hope for was a single data point from a mashup of lots of cells. But with single cell genomics, they can give each cell its special. special moment in the sun, turn each one into a data point, and get a far more nuanced picture of the disease. So I asked Kate how she does that. So in building this cellular Atlas, and you analyze nearly 400,000 individual cells from patients, which is just an astonishing number, I'm wondering what does the Atlas look like and how are researchers going to use it? So our endometriosis cell atlas is this now kind of big database of different cell types

and their molecular fingerprint in endometriosis and in patients without endometriosis. And so a lot of the work we did was simplifying this big complex data set into something where you can ask specific questions from it. So I'm interested in this cell type, what is it doing in an endometrioma? and what is it doing when it's in a uterus, for example. Yeah. And so now other researchers that will have their favorite cell type that they're studying can use this resource to have a look at how these cells behave in these different contexts.

So how is endometriosis currently treated? And how could it be treated differently in light of this Atlas? So current treatments for endometriosis will focus a lot on suppression of the menstrual cycle, so that patients don't have those fluctuations in hormones. And that might be anything from oral contraceptive pills, which can work for some patients. But we know that's only going to be suppressing lesions. And the other options are going to be pain management and then also surgery.

So at our medical center at Cedicinae, there are surgeons that have expertise in what we call excision surgery. So that cuts out the whole lesion rather than what we'd, call ablation surgery, which burns off the top of the lesion, but might leave its roots in place. So, I mean, given the current treatment landscape, how could your cellular Atlas improve treatment options out there for everyone? Yeah, so one of the things that we're really focused on is understanding how if we take this new molecular information, can we translate that into something that can be detected in the blood? Are they releasing any of that material that we could

then see in the blood to potentially develop some blood tests that could be used. Maybe if not to diagnose, I mean, that would be their home run for us, but could we even use it to find the patients that are most at risk? And that would also be valuable because they could then get evaluated by a specialist more quickly. Because we really know that the time to diagnosis can be very long for patients, eight years or longer. And that can have, you know, all sorts of different impacts on, you know, the progression of disease. And that person's life. And so we really want to find ways to reduce the window to diagnosis. That is a big deal. I'm trying not to get too excited because of your important caveat that it

would be a home run. But yeah, I mean, for so long, that has been the story of endometriosis, that it's stories of people not getting a diagnosis for a decade, stories of people being medically gaslit and told that their pain is normal or something. I can see why you're excited about the possibilities while knowing that we don't know if. sure what's going to happen. Yeah, there's definitely a lag in all sorts of different needs for endometriosis. I think the way that endometriosis is taught in medical school probably needs to be reformed. There's a long way to go. We definitely need this to be a much bigger effort. But I'm happy that the tides are changing in the right direction. And I've been in research for, I think, 18 years now. And I've

seen a big change in that time. So hopefully the next 18 years will really see differences in how we understand endometriosis and how we can treat it more effectively and diagnose it more efficiently. Absolutely. That shift in thinking that you're talking about, what's driving that change, do you think? You know, I don't know that it's just one thing driving that change, I think. Oh, yeah. What are some of the things? Yeah. I think people are finally realizing that, you know, diversity and equity and inclusion are just important for our success as a society. And part of that is, you know, making sure women are equally represented, have equal opportunities. And we can't do that if we don't fully, you know, account for illnesses that are preferentially impacting women or exclusively impacting women and addressing that accordingly.

And I don't think there's going to be an easy answer, but I'm happy to see it being there more when I open the newspaper and on podcasts like this, where we're recognizing that we can't ignore conditions like this that are really robbing us of many talented women who can't reach their full potential because of this disease that we just haven't studied well enough to be able to treat it effectively.

Before we go, I have some. big news. I'm working on a new project that will come out next spring, a podcast about Asian American history through the eyes of families who experienced it firsthand produced by NPR member station LAist. And because of that, you won't be hearing from me on Shortwave for a little bit. But don't worry, I'll be back in the spring, and Regina Barber and Aaron Scott will be filling your life with science wonder while I'm gone. See you next year. I'll miss you. This episode was produced by Margaret Serino and Carly Rubin. It was edited by managing producer Rebecca Ramirez and Willow Rubin.

In fact, checked by Will Chase. Gilly Moon was the audio engineer. Beth Donovan is our senior director, and Anya Grundman is our senior vice president of programming. I'm Emily Kwong. Thank you for listening to Shortwave from NPR.