Attacking Endometriosis With Awareness and Research

Treatable but not curable, endometriosis affects one in 10 women and girls of reproductive age. But it’s not all that well understood and recognized, and can go undetected, leading to years of avoidable suffering and causing time away from school, work, and other activities. UConn Health is part of a collaboration with The Jackson Laboratory for Genomic Medicine and the state of Connecticut called EndoRISE, which seeks to raise awareness and advance research of endometriosis. Dr. Danielle Luciano, director of minimally invasive gynecological surgery at UConn Health, and Jasmina Kuljancic, EndoRISE program manager from JAX, help lead this effort.

(Dr. Danielle Luciano, Jasmina Kuljancic, Chris DeFrancesco, March 2025, studio and technical support by Ethan Giorgetti and Ryan Bernat)

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Transcript

Chris: It’s highly invasive and largely underdiagnosed. Today on the Pulse, we get into how Connecticut is leading the way in the fight against endometriosis.

This is the UConn Health Pulse, a podcast to help you get to know UConn Health and its people a little better, and ideally leave you with some health information you’ll find useful. I’m Chris DeFrancesco.

Endometriosis is a painful, inflammatory uterine disease that affects one in 10 women of reproductive age. It tends to be misunderstood or misdiagnosed, leading to avoidable suffering. But a new effort in Connecticut, backed by a new state law and collaboration with the Jackson Laboratory for Genomic Medicine, has put our state on the forefront of researching this disease and improving care.

Joining us are Dr. Danielle Luciano, UConn Health’s, director of minimally invasive gynecological surgery, and Jasmina Kuljancic, program manager of EndoRISE at the Jackson Laboratory, and we’ll get into what EndoRISE is momentarily. Thank you both for the time today.

Dr. Danielle Luciano: Thank you.

Jasmina Kuljancic: Thank you.

Chris: Let’s start with a little more on endometriosis and what women and girls and their loved ones should know about it.

Dr. Danielle Luciano: So endometriosis is a, like you said, chronic inflammatory or systemic inflammatory disease that is characterized or diagnosed by seeing lesions that look like the lining of the uterus growing outside the lining of the uterus. So in the pelvis is predominantly where we see it, but we can see it in far places like the lung or the pericardium. And this disease causes, predominantly, pelvic pain, pain with intercourse, bowel dysfunction, bladder dysfunction, and infertility. And it affects about one in 10 reproductive-aged women, or people born with uteruses.

Chris: Alright. Now UConn Health and JAZ have teamed up on a state-supported initiative known as EndoRISE. How and why did this come to be?

Jasmina Kuljancic: I think it initially really started with Dr. Luciano and Dr. Elise Courtois from The Jackson Laboratory establishing this research relationship studying endometriosis back in 2018.

Dr. Danielle Luciano: Yes.

Jasmina Kuljancic: And, working with Representative Jillian Gilchrest from Connecticut, started this initiative called “Endometriosis Work Group,” where patients, patient advocates, legislators would get together and come up with policy recommendations to provide to the state. And Dr. Luciano and Dr.  Courtois were part of this initiative. And one of those policy recommendations was the establishment of EndoRISE, and with unanimous support, the plan put forward for establishment of EndoRISE was passed in 2022. And in 2023, the actual program was established.

Chris: Alright, so Jasmina, you’re the program director for EndoRISE from Jackson Laboratory. What is it about, specifically Endo Rise, the objectives, or how we’re getting there? And there are multiple facets to it, right?

Jasmina Kuljancic: Yes. We’re doing a lot. One of the main facets of the program is the biorepository. So the state of Connecticut is supporting the biorepository efforts. So we’re enrolling participants , currently from UConn Health and expanding to other sites throughout Connecticut, working with different health care institutions to really emphasize the diverse population that we have in Connecticut, so making sure we’re including all ethnic groups, all different backgrounds, into our biorepository.

So when a patient undergoes surgery, we’re collecting the excised endometriosis lesions, different bodily fluids, that we can biobank in the biorepository to promote research efforts and understanding the basic biology of the disease, which we’re currently lacking in the field.

Another big component of this is education, so education for patients and the public, but our big focus is on  health care provider education. So Danielle and Dr. Alexis Newmark from UConn Health and I have been really focusing on reaching school nurses throughout Connecticut, providing them the context of what endometriosis is and how they can spot it in adolescent teens. School nurses are, can be, sometimes the primary, the first point of contact for some of these individuals that are having endometriosis symptoms that they’ve never really heard of the disease before, but also  health care providers. We had a CME course here back in November for imaging of gynecologic conditions, including endometriosis, adenomyosis, where providers are able to earn continuing medical education credits. So we’re really focusing on that aspect. You learn a lot in school, but a lot of experience comes from the field, which Dr. Luciano and others from the OB-GYN department here at UConn possess.

Chris: Dr. Luciano, how have the school nurses been, how receptive have they been to this outreach that you’ve been trying to do?

Dr. Danielle Luciano: They’ve been very receptive. They are the ones, like Jasmina said, that are first line. They’re the ones that are seeing these girls missing classes or coming to the nurse’s office with painful menses that aren’t being explained. And to give them the resources to help these young women has been something that’s been very rewarding.

Dr. Newmark actually just spoke with a group of nurses from Stamford and did pre- and post-surveys, and saw a significant improvement in their comfort level about what to do with these young women and how to help them and the resources that they can use.

Chris: Once you reach reproductive age, endometriosis is kind of on the table for you, is that at what point we start seeing it at the earliest?

Dr. Danielle Luciano: Yeah, so endometriosis generally is diagnosed during your reproductive years. The average age of diagnosis in the United States right now is 27, but they believe that most people have had symptoms for at least 10 years prior to diagnosis, which means a lot of these young women are starting with their pain in their teenage years, which is really why we’re reaching out to the school nurses, so that we can catch the disease early.

It’s really the day-to-day people that see these young women that really understand what they’re going through. And if you don’t ask the questions, the girls aren’t gonna give you the answers. They’re not just gonna come and tell you, “I have painful periods.” You have to say, “How come you’ve been missing school so much,” or, “What’s been going on,” and then it allows them to answer those questions. They don’t know that what they’re going through is abnormal, so they’re not gonna bring it up unless you ask.

Chris: Jasmina, as the program manager for EndoRISE through The Jackson Laboratory, and understanding it’s early but, what have we seen so far since we started with EndoRISE? Has, has any preliminary information come in or anything that can kind of guide the direction that we want to go in with it?

Jasmina Kuljancic: Yeah, I mean, we have actually enrolled over 60 participants now just from UConn Health. We have biobanks, close to 3,000 biospecimens from these patients that can be used for research and, especially, the latest cutting-edge technologies that are available to be able to really, to understand the disease in the most complex and basic way that it actually exists. So we are seeing from some of the data that we are collecting from — I should mention that as part of the biorepository, we’re also collecting phenotypic data from the patients, so that includes clinical data, clinical history, the quality of life. So we’re really trying to capture the patients, not just biological, but also systemic impact that the disease may have on their quality of life.

What we’re seeing currently is, from the data itself that we’re collecting, there is over a 30% chance for endometriosis patients to have other conditions that are immune, immune-related — so rheumatoid arthritis,

Dr. Danielle Luciano: Ehlers-Danlos disease,

Jasmina Kuljancic:  Ehlers-Danlos, lupus — some of those are, just some of the diseases are immune-related that we’re seeing. So out of our cohort that we have, 33% of our patients have other co-occurring immune-related diseases. That’s just kind of one little facet of it. We still have a lot more data to analyze and we’re still collecting information and data as our cohort grows, and we’re capturing the diversity and really ethnic backgrounds. It’s really important to see because not every individual has the same genetic makeup, so we really need to be able to relate the biology versus everything else that an individual’s experiencing.

We have had a lot of outreach from academic institutions really interested in doing collaboration with us for research, some biotech and pharma companies really interested in our specimens, so really working on the logistics with them, kind of pushing in that direction of trying to advance the basic understanding of endometriosis, hopefully leading to non-invasive diagnostic tests and some actual therapeutic treatment that works for endometriosis.

Chris: How do you diagnose it at this point?

Dr. Danielle Luciano: The gold standard diagnosis for endometriosis is surgery with removal of the lesions. We have some ultrasound findings that are consistent with endometriosis. There are some physical exam findings that could be consistent with endometriosis, but definitive diagnosis at this time involves undergoing surgery and laparoscopically removing the lesions and then sending them to pathology, which is obviously highly invasive and also not available to everybody, which is part of the reason why researching this disease is so difficult, is because when you can only diagnose it by surgery, then the only people that you’re gonna be able to study are the people that have surgery, and not everybody is going to have surgery.

Chris: So one of the long-term objectives I would imagine is, can we figure out a way to get a better handle on this without having to take that invasive approach to diagnosing it?

Jasmina Kuljancic: Correct.

Dr. Danielle Luciano: Exactly.

Chris: Which would probably make us better at diagnosing it because you’d be able to serve a wider population of the people who potentially could have it.

Dr. Danielle Luciano: Exactly. And then ideally catching it early, right? Because in order to see it surgically, it had to have been there for a long enough time for it to be macroscopic enough for me to be able to see it and remove it. So we know there’s microscopic disease that we can’t see, and if we could detect it somehow with a blood test or a swab or a something, then we wouldn’t have to wait until it becomes macroscopic so that we can see it and remove it.

Chris: So let’s talk a little bit about the spectrum of, I guess, endometriosis, right? What could happen if someone has it for a really long time? And obviously the advantage of finding it early.

Dr. Danielle Luciano: So we believe that endometriosis is a progressive disease. The majority of our patients who have endometriosis, if left untreated, get worse. And the majority of our patients, if we remove the endometriosis at the time of surgery, and then don’t put them on some sort of therapy to minimize recurrence of the disease — we do not have a cure — then they tend to progress more quickly to needing another surgery or becoming symptomatic again.

The staging for the disease is surgical staging, and it is not based on how much pain the patient has or whether or not the patient is more likely to get pregnant. The staging is based on surgical complexity. And that’s because you can have stage one surgical complexity, endometriosis, and no pain. You can have stage one and a ton of pain. You can have stage four and no pain, and you can have stage four and a ton of pain. And the infertility is all over the spectrum. So we can’t stage it or explain it based on what we see. So we just stage it based on how hard it is to get out, and keep the patient safe, basically, and not have complications.

Chris: I would imagine part of the objective of the research component of this is to try to get a better handle on what I’m about to ask you, which is, how much of this do we know is genetic versus what are the risk factors other than being born with a uterus and being of reproductive age?

Dr. Danielle Luciano: We know it’s genetic in the sense that there is a sevenfold increased risk of endometriosis if you have a family member with endometriosis. But we also know that there are a lot of also environmental factors, and we think that part of the reason that more people are being diagnosed with endometriosis is perhaps related to earlier menarchy, later childbearing, and later menopause. But we don’t know a 100% that that’s it, because I can tell you that there’s always a difference.

Jasmina Kuljancic: Yeah, and it goes back to that lack of understanding the basic biology of disease. Like we lack the resources and the funding that are going to really study endometriosis to be able to have a researcher really invest their time over a course of, let’s say, several years to just focus on endometriosis, studying those lesions and the immune system and the microenvironment surrounding the lesions that exist, to really be able to lock in and be like, “OK, I have this funding to proceed research for five years and that’s going to give me a great amount of time to really understand the complexity of the disease and the basic biology,” which we haven’t really had that. And I think over the last couple of years, the awareness piece of endometriosis is really bringing the spotlight to it, and it’s really the efforts from the patients that are driving this initiative and hopefully programs like ours across the country that will guide us in that direction.

Chris: Jasmina, before we say goodbye, is there anything else that you want to make a point of letting us know about EndoRISE?

Jasmina Kuljancic: Yeah, I think I really just want to make a point on the awareness piece. Our program is really focused on doing community outreach, doing different events where we can educate the general population on what symptoms to look for. If your kid is missing school a couple days out of the month, or even missing activities or sports, that’s a red flag, right? Like if they’re, every time they have their period, they’re kind of just laying low and not able to do much. You know, the parents should really advocate for their kids, and kids should also, not just kids, anyone really that’s suffering from any of those symptoms, reach out and seek professional advice.

Chris: And, Dr. Luciano, any other signs or things that women, young women, or the people who love them should be looking for or knowing to ask them about?

Dr. Danielle Luciano: So I think we need to understand that having your period. Isn’t supposed to be so painful that you can’t function. It isn’t supposed to be so painful that you can’t go to school, that you are missing events, that you are not able to go to work or do the things that are fun for you. That’s not what having your period should be like, and if you’re having that much pain and it is happening that frequently, then there’s something wrong and that you need to see somebody and you need to get help.

Chris: Dr. Danielle Luciano, UConn Health’s director of Minimally Invasive Gynecological Surgery and Jasmina  Kuljancic from The Jackson Laboratory for Genomic Medicine, the program manager for EndoRISE there, thank you so much, both of you, for joining us and for the work you’re doing.

Dr. Danielle Luciano: Thank you.

Jasmina Kuljancic: Thank you so much for having us.

Chris: Now we’ll put some more information in the show notes about EndoRISE and how to reach you, Dr. Luciano if people feel like they or someone they know could benefit from seeing you.

That is our time for today. For Jasmina and Dr. Luciano, and for producer Ethan Georgetti, I’m Chris DeFrancesco. Thank you for listening to the UConn Health Pulse. Be sure to subscribe so you can catch us next time and please share with a friend.