sickle cell

Carriers of Sickle Cell Trait Encouraged to Join As One Foundation’s Research Registry

By 1986, nearly every newborn in the U.S. underwent screening for sickle cell disease, a potentially fatal and painful disease caused by a genetic mutation. A rare condition, sickle cell disease only occurs in people who inherit a faulty HBB gene from both parents. The mutation causes hemoglobin, the protein in red blood cells that carries oxygen through the body, to stick together—forming a sickle shape.

For those newborns who only have one faulty HBB gene, their parents may have received a letter from the hospital explaining their newborn has sickle cell trait. It may become a concern if they have children with another sickle cell trait carrier when they’re older, but otherwise, they should live a long and healthy life with no symptoms of sickle cell disease.

And that’s a problem, says Tomia Austin, PhD, As One Foundation’s executive director. 

Understanding sickle cell trait

Because of the lack of awareness and research, many children and young adults grow up not understanding they have sickle cell trait. In fact, in rare cases, individuals with only one HBB gene mutation can still fall ill or even die from sickle cell disease-like symptoms, especially at high altitudes, during extreme exercise, or during severe dehydration.

Devard Darling, president and founder of the As One Foundation, was inspired to create the organization after his twin brother, a college athlete, died due to complications of sickle cell trait. 

Darling asked Austin to lead the organization’s efforts to improve sickle cell trait literacy, not only for carriers and their families but also for the medical community. 

“A lot of what’s going on with sickle cell trait is just personal stories. People are living it,” Austin says. “Doctors don’t know what they don’t know about sickle cell trait. There’s not enough research being done for sickle cell disease, let alone sickle cell trait.” 

“I’m very proactive in telling potential participants that they own their data when they join the registry. Their health data belongs to them.”

Tomia Austin, PhD

In addition to educational webinars, social media, events, and outreach to other sickle cell-focused organizations, Austin says there is a high need for evidence-based programming.

Using Luna to develop a sickle cell trait registry

“I thought, ‘what if I could pull together a registry to capture all of these patient experiences with pain and symptoms’,” she says. After reaching out to Genetic Alliance in 2020, As One Foundation applied and received funding and guidance to build a registry.

The registry queries participants on pain, chronic fatigue, muscle aches, pain recovery, physical activity, and other information. Because sickle cell trait problems can occur during activities like mountain climbing and deep-sea diving, Austin says they try to capture those scenarios where the person may have had a reaction that, at the time, they may not have attributed to sickle cell trait. Gathering this self-reported data through the registry will be important to developing evidence-based results. 

Austin is currently enrolling participants in the Sickle Cell Hemoglobinopathy Pain and Symptom Registry with the goal of having it completed by the fall of 2023.  She’s already three-quarters of the way there. She’s eager to dive into the data and share the results with the sickle cell community in the hopes of generating more research interest. 

Learn about the Sickle Cell Hemoglobinopathy Pain and Symptom Registry

Have you or a loved one experienced symptoms caused by sickle cell trait? Were you told that sickle cell trait was nothing to worry about and you’d live a normal life? Share your experience through As One Foundation’s Sickle Cell Hemoglobinopathy Pain and Symptom Registry.

Research begins by knowing the right questions to ask

To help encourage participation, Austin is reaching out to collaborate with other sickle cell disease organizations. “The majority of caregivers to sickle cell disease patients are people who are living with sickle cell trait,” she says. In fact, although sickle cell disease is considered rare (1 case per 15,000 births), about one in 13 U.S. newborns with African ancestry are diagnosed with sickle cell trait. 

In addition to educating individuals on the complications of sickle cell trait, Austin is also open to talking about the historical or cultural issues when it comes to research studies in the Black communities.  

“I’m very proactive in telling potential participants that they own their data when they join the registry. Their health data belongs to them. If at any point they are not comfortable with the study, they can exit the process,” she says. “Having sensitive health information safe and secure on Luna is a benefit, as well as the fact that participants always control their own health data.” 

“I also tell them ‘This is your opportunity to have your voice heard.’”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.

Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.

By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.

A Success of Community-led Research with PXE International

When Elizabeth Terry developed a strange rash-like condition on her neck, her mother did what most mothers would do—schedule appointments with the pediatrician, change laundry detergents, and try to determine why her child was having a reaction to an undetermined assailant. 

But it wasn’t an allergic reaction, it was a genetic condition that was later diagnosed as pseudoxanthoma elasticum (PXE), a genetic, slow-progressive disorder that affects the connective soft tissue of the body, causing loose, wrinkly skin. It can eventually result in vision loss and heart disease. 

It was only by chance that the Terry family lived a few houses down from a doctor who was familiar with the rare disease. Elizabeth’s mother, Sharon, took her to the appointment, along with Elizabeth’s younger brother Ian, in the hopes that he could make an accurate diagnosis. “Pseudoxanthoma elasticum,” he said, and then he glanced at Ian. “And he has it, too.” A biopsy confirmed the diagnosis.

An official diagnosis of PXE

With an official diagnosis, Sharon and her husband, Patrick, could look for research to understand the disease better, as well as doctors and treatments. Unfortunately, the research at the time predicted the siblings would soon succumb to the illness. 

“My mom and dad remember the Christmas of 1994 as the worst year of their lives because they thought both of their kids were dying,” Ian said. “Elizabeth and I remember that Christmas as the best of our lives because we got all the presents we could ask for.”

“She didn’t want other people to go through the fear that they went through…believing their kids were dying based on research that’s not remotely accurate.”

IAN TERRY

Over time, Patrick and Sharon decided that if the research on PXE wasn’t accurate, they would help mobilize patients, families, and researchers to increase understanding of the disease. The couple founded PXE International to accelerate research for treatment.

“She didn’t want other people to go through the fear that they went through,” Ian said. “Believing their kids were dying based on research that’s not remotely accurate.”

A model of shared research and advocacy 

The organization contacted a researcher at Jefferson Medical College to share their vision—a patient registry led by the advocacy group that would conduct research. 

“He kind of laughed and said, ‘Yeah, sure, bring me 400 people, and we can start the research.’” Ian said. It was a seemingly tall order for such a rare disease. “A year later, they had put together a group with about 2,000 to 3,000 people who had PXE.”

After growing up at PXE patient conferences and meeting others with the disease, Ian said it was a natural extension of his upbringing that he would move into advocacy himself. Now the senior user experience researcher for Luna, he is also invested in the collaborative work between Luna and PXE International.  

Learn about the PXE International Registry

The PXE International Patient Registry is the best way to provide experiences for studying pseudoxanthoma elasticum.

Research begins by knowing the right questions to ask

“Currently, the PXE study has more than 1,000 participants, and we’ve recently completed a biomarker study on Luna,” he says, contemplating how far the community-led research of the organization has progressed since its founding.  

“In the early days, PXE International conducted a study that was entirely in-person,” Ian says. “We’ve gone from filling out forms to registering 1,000 people on Luna and publishing our research soon, in a matter of months.”

One of the insights that have come to light through the registry is the appearance of modifier genes in PXE. The disease is defined by mutations in the ABCC6 gene, but the registry is finding some patients instead have mutations in the ENPP1 gene, as well as others.

“All of this interesting information we’ve been finding with Luna has previously been obscured this whole time because researchers haven’t been asking the right questions. You only get answers to the questions you know to ask.”

Sharon Terry explains it simply as a way to find answers more easily. “There is a popular cartoon of a person searching for their keys under a lamp post. The keys are right outside the circle of light. Luna allows PXE International to look where the keys are, rather than where the place that the light is already illuminating. If we know how to ask the right questions, we can get to the answers. Luna unleashes our power to ask the right questions and get to solutions faster and less expensive.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.

Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.

By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.

infertility

Unanswered Questions Led Recurrent Pregnancy Loss Association to Build a Community Registry with Luna

After Megan Hanson and her husband Ben decided to start their family, they were elated to find out they were pregnant after only two months of trying. Unfortunately, Megan experienced a miscarriage. After processing their grief, they tried again. And again. After experiencing six miscarriages, Megan and Ben still had no answers as to why.

“We went through all the treatments. We saw all the specialists. We got all the procedures. We took all the drugs and still ended up losing every pregnancy,” Hanson said. “We were always able to successfully get pregnant, but we just were never able to stay that way. It was heartbreaking. And when we would sit down with our care team and ask if there was anything that could be done differently that would lead them to believe the next pregnancy would be any different. They weren’t able to offer anything in terms of protocols or treatment regimens or testing.” 

Hanson started to talk to other people like her and learned more about recurrent pregnancy loss. Her research uncovered that having multiple miscarriages is a condition affecting about 2% of couples, and half of all cases have no explanation. The lack of answers and support led her and Ben to establish the Recurrent Pregnancy Loss Association (RPLA).

Bringing together those affected by recurrent pregnancy loss

“That was really our motivation for wanting to start RPLA,” Hanson said. “We both believed that when communities can come together and speak with one voice, they can be powerful partners for the medical and scientific community to move the field forward.”

Founded in 2019, RPLA is dedicated to research into causes of recurrent pregnancy loss and potential treatments, as well as to providing support and resources to those affected. Hanson also shares her story through RPLA to increase awareness of the impact of miscarriage and fertility challenges on women and families. 

“We both believed that when communities can come together and speak with one voice, they can be powerful partners for the medical and scientific community to move the field forward.”

MEGAN HANSON, CO-FOUNDER OF RECURRENT PREGNANCY LOSS ASSOCIATION

In just about a year’s time, RPLA joined the Genetic Alliance’s PEER Consortium, gathered a scientific advisory board, launched a research grant with the American Society for Reproductive Medicine Research Institute, and began to regularly provide support and information on clinical studies to their members.

Underpinning all this important work is the RPLA Community Registry, supported by the Luna platform. RPLA invites members to share their lived experiences with pregnancy loss as well as de-identified medical data for RPLA research collaborators who are examining the causes of recurrent miscarriages or treatments for recurrent pregnancy loss. The registry will continually build and become a data stream where answers to their members’ top priorities may be found.

A community of experiences

Hanson views members of RPLA not as patients, but as individuals with a shared, deeply personal experience. This individual-centered approach is a different type of advocacy, in that it brings people together who have experienced heartbreaking symptoms, have no known common disease or genetic condition, and are turning to each other for answers. 

“Recurrent pregnancy loss is unique from a diagnosis of infertility, but as a group of people who experience multiple miscarriages, the underlying causes are really varied,” she said. “It’s a pretty heterogeneous group that would experience this condition. That diversity can make research exceedingly difficult for such a small group,” Hanson said, “especially when a small population is further divided into additional subgroups.” 

She reached out to scientists and doctors to ask why it was so challenging to conduct research in this field of recurrent pregnancy loss. Over and over again, Hanson heard that the challenge was recruiting participants from an already small population for research. “They needed access to a bigger pool of information,” she said. With RPLA’s network, how could they help advance research? 

Answering the challenge of high-quality information at scale is precisely what the RPL Community Registry aims to achieve. 

Launching the RPLA Community Registry

Using the tools and platform of Genetic Alliance and Luna, RPLA is uniting individuals who have experienced multiple miscarriages into a data-sharing community where their privacy is protected and the individuals themselves control how their data is used. RLPA research collaborators “visit” the data to conduct studies. Together, they will listen for the right questions to ask, generate new hypotheses to test, as well as work to improve care, better understand why recurrent pregnancy loss happens, and determine how it can be prevented. 

“That’s what we’re really hoping for with the registry—that when we come together and pool our information and share our experiences and data, it will allow a lot more questions to be asked and ultimately answered a lot more quickly,” Hanson said.

Gathering information on demographics, health conditions, and pregnancy history is just the start. The next step is selecting research partners who can help find the right questions to ask the community. “There are so many opportunities for research and understanding of recurrent pregnancy loss that can be gained through the registry,” Hanson said. 

In addition, they also want to uncover any long-term consequences associated with multiple miscarriages. “While losing a pregnancy is difficult,” Hanson said, “it could also have a much bigger impact on women’s overall health than people realize.”

Launching a community registry quickly and with confidence using the Luna platform

“The registry is person-centered, where the participants own their data and have control over how it’s used,” Hanson said. “That was really attractive. That’s really what you want when you’re developing this type of community-led initiative. You want your community to truly have a voice.”

RPLA is currently welcoming individuals from around the world to join the registry. So far, the response has been incredible, she says. The next step is to reach out to obstetrics and gynecology offices and fertility clinics to increase awareness of the registry. Over the next several months, additional engagement opportunities and questionnaires will be launched to the community.

“Being able to regularly report back to the community on our progress and results will be really important,” she said. “Both to solidify our voice and harmonize as a group, increase engagement, and ensure people feel that they’re part of a movement that will make a difference.”

For such a young advocacy organization, RPLA has already pushed the community forward in terms of support and research. For other groups considering developing their own research questions or IT infrastructure, Hanson recommends looking for supporting organizations and technology that can get them up to speed quickly and strategically, and preserve budget for other areas that only the advocacy group can do.

“My advice is to join Genetic Alliance’s PEER Consortium and let them help you. There’s no need to recreate the wheel,” Hanson said. “Genetic Alliance and Luna already know how to do it well.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.

Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.

By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.

table meeting

Patient Community Provides Insights for KCNT1-Related Epilepsy Research

After his son Andrew was diagnosed with KCNT1-related epilepsy at nine months, Justin West reached out to Sharon Terry, president and founder of Genetic Alliance, with a simple question: What could he do, as a father of a child with a rare disease, to better advocate for his son and the community of families impacted by this disease? West had added his son to an existing patient registry, met other parents, but wanted to do more.

His timing couldn’t have been better. Terry had recently been contacted by a pharmaceutical team that was considering focusing on Andrew’s disease. Within a short amount of time, West became a key player in progressing research into his son’s disease by sharing data and insights. West teamed up with two other parents and is now co-founder and Chief Medical Officer of the KCNT1 Epilepsy Foundation.

Data is the currency in the rare disease community

KCNT1-related epilepsy is an ultra-rare, infant-onset seizure disorder caused by mutations in the KCNT1 gene. Some cases lead to severe seizures and encephalopathy. Children with KCNT1-related encephalopathic epilepsy typically start missing their normal developmental milestones within months of the beginning of the seizures. Many children never learn to walk or talk.

Resources and support from Genetic Alliance and a secure data platform from Luna helped the foundation elevate its advocacy work. Through data sharing, the organization could mobilize research into the disease.

“Sharon taught us a long time ago that our data is currency. It was a perspective I didn’t have before,” West said.

Pharmaceutical companies who want to treat a disease ultimately need access to patients and their data. KCNT1’s patient registry is designed so the data isn’t owned by one pharmaceutical company or researcher. Study participants can offer the data to any group “…so our kids have the greatest number of opportunities to have people research their disease and develop therapies as opposed to a single entity owning and controlling access to that data.”

The registry also reduces the redundancy and burden on families having to submit the same health data and information multiple times for each group of scientists and drug developers.

Another lesson was the valuable insight patients’ families could provide to those researchers and drug developers.

“Being a partner in research, along with owning and controlling the registry, also provides the KCNT1 Epilepsy Foundation an important seat at the research table.”

JUSTIN WEST, MD
CHIEF MEDICAL OFFICER, KCNT1 EPILEPSY FOUNDATION

Providing practical recommendations for complex research design

“I knew nothing about epilepsy, neurology, or genetics, but I know my kid,” West said. He recounts a seminar he attended with other parents for a natural history study of the disease. “Being a partner in research, along with owning and controlling the registry, also provides the KCNT1 Epilepsy Foundation an important seat at the research table.”

When Biogen introduced plans for the first natural history study for KCNT1-related epilepsy, West was thrilled but had some concerns. Initially, the concept was to have a single clinical center in the northeast where each family would travel with their child to see a single clinician every six months for two years.

“My response right off the bat was, ‘That’s absolutely never going to happen.’ Our kids are complicated,” he said. “Andrew has 15 different medications. He travels with oxygen and a pulse oximeter. He hadn’t really left the house other than to be hospitalized during the first two years. The idea that I would put my child and all his equipment on a plane to cross the country, then drive another few hours, just made no sense.”

Because parents were at the metaphorical table, West and the KCNT1 Epilepsy Foundation could make the natural history study remote. With COVID unknowingly on the horizon, the remote aspect ultimately saved the study. If the trial had moved forward as initially imagined, it would have had “basically zero compliance,” he said. “And without a natural history study, our kids would ultimately never get to a clinical trial. It was a key moment.”

A health study that delivers lived experiences and insights

The Foundation was invited to participate in an exercise that surfaced “top concerns” for its patient population using Luna’s Community Driven Innovation methodology.

“Pharma tends to focus on really easy biomarkers or endpoints—like in our case, seizures,” West says. “But the top concerns survey showed that our No. 1 concern was development.”

He explained that if a drug were developed that only reduced seizures by a certain percentage but didn’t help children achieve a developmental milestone, parents wouldn’t be as interested. “You have to find out what’s important to us as parents. Is it our kid’s constipation or their inability to eat? Is it their inability to hydrate? I think we were very lucky we were at the research table.”

With a successful patient registry and foundation to invite research partnerships, West shares his advice for other advocates:

  • Start a foundation. A single family may mean well, but with a foundation, you will have structure, organization, and a louder concerted voice from which to be heard and drive the health priorities that are important to your community.
  • Form relationships. Reach out to the experts in the field, introduce yourself and push to get their attention. There are thousands of rare disorders, and advocates are all fighting for the same small community of researchers.
  • Learn as much as you can. Learn from the experts, those at other foundations, other parents, and other rare disease organizations.

“All we could ever hope for is to have some sort of treatment in our children’s lifetime,” West says. “I think that the first opportunity for the KCNT1 community to have a directed therapy is within reach with Biogen. Our ability to ultimately access that trial has been facilitated by getting to know and work with Genetic Alliance and Luna.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.

Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.

By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.

When Advocacy Leads Research: The Rise of Community-led Initiatives

When Dorothy Poppe began to learn about Chiari malformation and syringomyelia after her son George was diagnosed in 1991, she was surprised at the lack of high-quality evidence in the medical literature.

Chiari malformation is a rare disease in which the brain tissue extends into the spinal canal. Increased and improved imaging technology has uncovered a higher number of diagnoses in the past several years, though, making it less rare than it was once believed.

Lack of Chiari malformation research motivates advocate’s beginnings

Unfortunately, the dearth of research for Chiari malformation and syringomyelia is only marginally better today. A recent literature search identified over 5,000 publications on the topics—none of which included Level I evidence. “Chiari malformation was identified in the late 1800s and the very first randomized control trial in its study was completed just last year,” Poppe said.

Poppe, the executive director of the Bobby Jones Chiari & Syringomyelia Foundation (Bobby Jones CSF), is dedicated to raising awareness and finding treatments for Chiari malformation, syringomyelia, and related disorders.

“We knew a community-led research initiative would work, but it was just a matter of finding a way to make it happen”

DOROTHY POPPE
EXECUTIVE DIRECTOR, BOBBY JONES CSF

Creating collaborative, community-led research

Working with prominent researchers and physicians at the time, Poppe aimed to collect information about the type and severity of symptoms patients with Chiari malformation and syringomyelia were experiencing. They sent out a mailed survey to all the patients in their database. 

“The nonprofit organization I was working with at the time had a mailing list of about 1,000 patients,” she said. “We received an unprecedented 397 responses.” 

That was the first major sign that a collaborative, community-led research project was needed for this rare disease community. “Ever since then, we knew it was possible to focus research in a patient-centric way, and it’s become a driving ambition in our work,” Poppe said. “We knew a community-led research initiative would work, but it was just a matter of finding a way to make it happen.

Dorothy Poppe
Dorothy Poppe, executive director, of the Bobby Jones CSF, has been a driving force for the organization.

The organization entered the Genetic Alliance’s PEER system (People for Engaging Everyone Responsibly) through a Robert Wood Johnson grant. Poppe said that the Genetic Alliance has been a true partner, walking them through the Institutional Review Board (IRB) processes, survey building, and long-term planning.

The organization’s medical advisory board has also been helpful in combating the feeling of ‘imposter syndrome,’ keeping them on track and validating certain decisions. 

Luna provides platform to advance research in Chiari malformation

By partnering with Luna, the organization feels secure that their members’ data is safe and being used responsibly for their research, a promise that Luna co-founder Dawn Barry extended to Poppe. 

“I remember meeting Dawn Barry at Genetic Alliance’s 30-year anniversary conference, and knowing from that moment that the partnership would be mutually beneficial and forward-thinking.”

Luna harmonizes genomic data, medical data, and very importantly, the lived experience, especially for communities like Bobby Jones CSF. Good science includes representative information for people-centered discovery. That’s why we created Luna.”

DAWN BARRY
CO-FOUNDER AND PRESIDENT, LUNA

“Luna harmonizes genomic data, medical data, and very importantly, the lived experience, especially for communities like Bobby Jones CSF,” said Barry. “Good science includes representative information for people-centered discovery. That’s why we created Luna.”

The Bobby Jones CSF registry community is focused on developing hypothesis-generating studies in Chiari, syringomyelia and related disorders, specifically in areas that matter most to patients, Poppe said. “Our goal is to develop research that sparks future study that yields high-quality Level I evidence. Ideally, the registry will also actively participate in and contribute to those future studies in a meaningful way.”

Part of their research includes questions important to patients with Chiari malformation, but highly controversial in the neurosurgical world. 

One of those studies focuses on the so-called “5-mm rule” in Chiari malformation treatment. The 5-mm rule has come into question because it does not accurately predict symptom severity or treatment success. Current practice determines a patient to have a Chiari malformation if their cerebellar tonsils are located at 5 mm or greater below the foramen magnum, or the opening at the top of the spinal canal. Researchers hope this study can help them determine whether or not this rule has impacted the likelihood of accessing neurosurgical Chiari care over the years.

Join the “Impact of the “5-mm rule” on surgical intervention overview” study. 

Poppe offers advice to other communities interested in conducting advocacy-led research.

  • Build a solid base of support from patients, caregivers, clinicians, and researchers with whom you’re going to work before beginning. They will be a large portion of your support base. Your other base of support will grow from your work in the PEER system. 
  • Genetic Alliance and Luna will be there when things get technically difficult, but your fellow communities are there to support you in a meaningful way when you need that extra boost.

“We’re still trying to find our ‘place’ among Chiari, syringomyelia and related disorder research. For now, we’re focusing on the areas in which we can make the most impact: giving special reverence to topics that greatly affect patients and caregivers on the day-to-day.”

To learn more about conducting community-led research on the Luna platform, visit Communities or contact collaborations@lunadna.com


About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.

Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.

By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.