data security mobile phone

The Evolution of Data Privacy: A Q&A with Bojil Velinov, Head of DevOps & Automation at Luna 


Bojil Velinov, Head of DevOps & Automation at Luna, talks about the evolution of data privacy and how Luna is addressing privacy and data security at the company.

From your perspective, how has the conversation on data privacy evolved, and how are you addressing it at Luna?

Data privacy is moving more and more into mainstream conversation, from breaches of social media sites and data leaks to ransomware attacks at medical institutions. Some of our utmost personal information is stored in these places, so it becomes very intimate when such information falls outside of our control. 

Bojil Velinov
Bojil Velinov, Head of DevOps & Automation at Luna

On the professional side, at the last Amazon Web Services annual re:Invent conference, the people I met with and the talks I attended combined my interests in healthcare, regulatory compliance, and data governance. The apparent perspective is that the industry is increasingly focusing on protecting the data subject, which is the technical term for whom the collected data is about. I want to see this topic continue to get more attention.

How are you addressing data privacy at Luna?

We address data privacy and security in multiple ways. We operate by embedding “privacy-by-design” as part of our core values, and we recognize that online privacy needs to be built upon a foundation of data security measures. 

For example, one best practice we have is conducting yearly penetration tests, a type of security test that ensures our application stack is well protected against some of the most common attacks on the internet. It’s one of the ways we work to secure our platform. 

We also assess the risk(s) for every software feature, such as a login button, entry for one’s username, file uploads, and such. As part of our development process, we ask ourselves: “How do we prevent this feature from being vulnerable to attack?” Implementing detection, prevention, and recovery pieces into each assessed feature is part of our development life-cycle. By exercising due diligence in our design, development, and release processes, we keep the application stack more secure–and ultimately guard privacy.

How do you operationalize privacy-by-design at Luna?

It’s good to think outside the box, such as what possible future attacks on the software could occur. For example, how do we architect a way to be resilient to future vulnerabilities? One way is to utilize continuous integration and deployment (CI & CD) coupled with monitoring tools, security brainstorming sessions and vulnerability scans. 

We’ve taken privacy and security into account very seriously, and from the inception of the platform, one approach we utilize, for example, is envelope encryption–it’s a way to encrypt something in multiple layers. You can envision this as putting a box within a box, but imagine if each was locked within each one, and they have separate keys to unlock them. 

Another approach we have taken is not storing the data in the same location. We keep data fragmented. This way, if one particular location is compromised, it doesn’t reveal the complete picture of what the data represents. 

People who contribute to the Luna platform see how their data is utilized and to some degree magnified. That starts with our language and how we talk about it, it goes through how we implement the guards of that data and finishes with the granular controls of the data we give to each individual. All this establishes trust and demonstrates transparency. 

People have become increasingly aware of the importance of data security and how it affects data privacy. The volume of personal data people generate on the internet pertains to their privacy and their ownership of that particular data. I think what we do often try to put ourselves in the user’s perspective. People who contribute to the Luna platform see how their data is utilized and to some degree magnified. That starts with our language and how we talk about it, it goes through how we implement the guards of that data and finishes with the granular controls of the data we give to each individual. All this establishes trust and demonstrates transparency. 

Can you share more about the penetration test?

There are various ways of having a good posture from a security perspective. For example, how do we ensure our domain or company email is not used by a third party for spoofing? 

Pretend that a bad actor is phishing, for example. In phishing, a technique of fraudulently obtaining private information, email is the most common media. Nowadays there are some “geeky” mechanisms at our disposal, such as using specific signatures in the domain name system (DNS) records. Historically, DNS are the servers that help us find things on the internet. They are the ones knowing where you need to “land” when typing a website name in your browser’s address bar. Now, the same system is utilized to protect us from spam and phishing by allowing the receiver to check that an email claimed to have come from a specific domain was indeed authorized by the owner of that domain. This is technically known as DomainKeys Identified Mail (DKIM).

Here’s how it works:  You send an email from lunadna.com to a recipient using Gmail, for example. Upon receiving that email, the Gmail server checks for a setting in the lunadna.com  domain system. It says, “I am receiving this from this particular email service/server, can you confirm the server is authorized to send emails on your behalf?” Simple, yet powerful. I highly recommend any engineer involved with their company’s email and DNS to set this up. 

Many sites today use multi-factor authentication. What are the concepts here?

The concepts are evolving in multi-factor authentication. The tools around them are evolving. At Luna, we try to balance the impact of “extra steps” the member must take and their overall sign-in experience. At the same time, be upfront in explaining why we are putting such controls in place. In short, it’s because we really care for your data security, and we want to ensure that the person entering the platform is indeed you.

Take, for example, the case of ransomware attacks. The breaches in most of these security incidents, at various companies or individual accounts, happen because the password was compromised. That’s really the weakest link in the chain. It’s best not to reuse your passwords! Try using password manager technology to be most data safe. If one of your accounts gets compromised, bad actors can try it on other sites. If you did not reuse your password, you’d be less vulnerable. If you did, then you are out of luck.

Multi-factor authentication, in some cases referred as 2FA, can be leveraged in different ways, such as using email verification, text message, etc. It’s that additional control you put in place that, to some degree, provides another layer of protection. It also has its vulnerabilities, though. 

A practical way to think about multi-factor authentication is to balance the work required for authenticating the user to keep the bad guys out while keeping the process user-friendly. You don’t want to annoy your new participants with a slew of controls before they can see the benefit of your application. A little friction goes a long way, and it’s certainly better than the pain associated with sensitive data loss. 

Read about Luna’s Data Protection Impact Assessment.


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.

global COVID

Genetic Privacy During the COVID-19 Pandemic


The profile of genetic testing–and the resulting genetic data–has been elevated in public discussions. One reason is because of the COVID-19 pandemic, but also because of an increasing focus on data privacy and the growing belief that individuals should have control of their data.

While concerns exist with the collection of consumer transactional data by Big Tech, considerations of one’s uniquely identifying genetic data–and the privacy controls applied to it–have become more focused. Unlike consumer data that can be expunged and obfuscated, genetic data describes an individual through their entire life. The impact of a data breach with genetic data can have consequences that cannot be undone.

Privacy concerns: consumer data versus genetic data

It is commonplace to securely encrypt data while it’s being stored and even to use technologies like homomorphic encryption to control access to genetic information for research purposes. Such techniques have been used to propagate the most common mode of data use in which it is downloaded onto a researcher’s computation environment. Each download of data is a separate copy that carries with it the liability that the information could be shared or hacked and used for purposes other than it was provided for under informed consent.

An alternative solution, and one that is inherently compatible with modern data privacy frameworks such as the European Union’s General Data Protection Regulation (GDPR), is to not make copies of data. Instead, the use of a computational environment, also known as a sandbox, that can access the data may be provided to each research team to perform analyses. The advent of powerful and readily available cloud-based information services has made this latter solution viable.

While concerns exist with the collection of consumer transactional data by Big Tech, considerations of one’s uniquely identifying genetic data–and the privacy controls applied to it–have become more focused.

It is also important to consider that not all genetic information carries a high potential risk to the individual. DNA data on a person’s cancerous mutations are different than the individual’s germline DNA and cannot be used to re-identify an individual. Similarly, the data on a particular variant of a virus, such as SARS-CoV-2, cannot be directly traced back to the individual from which the sample was collected. In both cases, genetic information is distinct from an individual and does not carry a risk to the individual from which it was collected.

Scott Kahn
Scott Kahn, PhD, Chief Information and Privacy Officer, Luna

Weighing risks for different types of data

The different risk aspects of different types of genetic information can be different for individuals, institutions, and governments. Whereas individuals may not be at risk of re-identification from pandemic-related DNA data, institutions and moreover governments might experience negative consequences upon disclosure of a novel variant as was seen with South Africa’s disclosure of the omicron variant.

While all public health efforts were bolstered through knowledge of omicron’s existence, the economic consequences felt by South Africa through the travel restrictions and related actions were a far cry from an expression of gratitude by the rest of the world.


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.


Scott Kahn, Ph.D.

Scott Kahn, Ph.D.

CHIEF INFORMATION + PRIVACY OFFICER

Scott is the former CIO and VP Commercial, Enterprise Informatics at Illumina. At Luna, he’s integrating data privacy and security provisions that keep member data safe, private, and secure.


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.