Close-up of Young Boy

Luna Partners with Industry, Advocacy, and Families to Accelerate a Cure for Hunter Syndrome

We believe medical studies should be done in a truly collaborative way, where people living with the disease are treated as the experts, and researchers study the information streams that reflect the true lived experiences of the families.

Advocacy organizations—the National MPS Society and Genetic Alliance—partnered with Luna to achieve this goal. In early December, we started enrolling participants in a health information-sharing and medical-discovery digital community that begins in the homes of families living with Hunter syndrome.

As a father of two children with a rare genetic disease, my heart goes out to families living with Hunter syndrome. We are absolutely dedicated to changing the way individuals engage with research—and how research can partner with advocacy organizations.”

Joe Beery
CEO of Luna

This program demonstrates a study framework where all parties are better served while enhancing research goals. This design ensures the clinical and behavioral features and key endpoints are incorporated into the drug discovery process. This can only happen when families—those who live daily with the disease and know the lived experience best—have a seat at the table as partners.

In conjunction with Takeda Pharmaceutical Company, this partnership will advance the understanding of Hunter syndrome and help develop therapeutic interventions for patients with this rare genetic disease.

Participants will share what matters most to them about living with Hunter syndrome. The program provides an opportunity for individuals to engage with a genetic counselor and control the use of their data throughout the study. Access to these data streams, including whole-genome sequencing (WGS), medical history, and patient-generated health data, will form the basis for discovery and development.

Developing a Family-centered Study Design

“We are excited to work with Takeda in exactly our sweet spot. It is we who know these families and their affected children the best. They look to us for support and long-term solutions,” said Terri L. Klein, CNPM, president and CEO of the National MPS Society.

Klein said the organization is happy to be an integral partner in the study, which will engage and support patients with Hunter syndrome and their families throughout the process.

The National MPS Society and Genetic Alliance play a leading role in this program to ensure a family-centered study design–one that is consistent with their needs, wants and lifestyles. The study framework will allow for patients to participate virtually, which reduces the burden on families.

Dawn Barry
president and Co-Founder of Luna

“This allows greater participation from more diverse populations, expedites study recruitment, and amplifies the statistical power for discovery—creating unique benefits for both participants and researchers,” said Sharon Terry, president and CEO of Genetic Alliance. The nonprofit advocacy organization is providing engagement and regulatory expertise for the program. For more than three decades, it has developed and deployed tools that allow families to be in charge of their health to drive research.

Understanding Hunter Syndrome

An inherited disease that occurs almost exclusively in males, Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a lysosomal storage disorder. It is caused by mutations in the iduronate 2-sulfatase (IDS) gene, which affects every organ of the body.

Conducting WGS will support better understanding Hunter syndrome’s natural history, disease heterogeneity, and the contribution of IDS mutations and genetic modifiers outside of IDS to disease presentation.

More than 600 IDS disease-causing mutations have been implicated in Hunter syndrome. While some mutation types are typically associated with neuronopathic disease and cognitive impairment, single-nucleotide mutations show variable association with other disease manifestations.

Although the age of onset, disease severity, and rate of progression of Hunter syndrome varies significantly, initial symptoms usually become apparent in children from two to four years of age. There is currently no cure for this condition.

“This project exemplifies the interdependency between research and the patients and families who we hope will one day benefit from potential breakthroughs that result from the program,” said Dan Curran, M.D., Head, Rare Genetics & Hematology Therapeutic Area Unit at Takeda. “We have had the privilege of working with the National MPS Society and the global Hunter syndrome community for many years as part of our ongoing commitment to delivering novel therapies, disease education and support resources to those affected by this rare lysosomal storage disorder. We are proud to partner together to create more patient-centered discovery programs.”

To learn how Luna can help your organization bring together individuals, communities and researchers to produce powerful insights, contact us at info@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.

Feature Spotlight: Member Accounts

Making what’s important to you easier to find

We’ve made some changes to your member account. Now it’s easier for you to find your studies and see information from your communities and registries.

Member Dashboard

View tasks like “Contribute Data” ready for you to complete

Access studies you’ve joined. You can also access your studies by clicking on the “My Studies” tab

Find additional resources and information on conditions or diseases of interest to you using Disease InfoSearch

Review all the data you’ve shared and patient portal connections you’ve made by clicking on the “My Data” tab at the top of the dashboard

Access your notifications, settings, and logout from the side menu under the colored avatar in the top right of the dashboard

Community/Registry Pages

Your communities and registries each now have their own page devoted to their content. So you can easily find everything related to them all in one place.

View all the studies your community has available

Access special permissions you’ve granted your community organizers

Community/registry-specific messages on the community pages so you can see just the messages from your community or registry

Log in today to see what’s new on your dashboard

Coming Soon: More improvements to your member account are headed your way

A formal messaging center where you can more easily read all your notifications and important messages from study coordinators and community organizers

What’s Staying the Same

Luna remains focused on providing a regulatory compliant platform where you can feel good knowing your data is secure and confidential.

Log in today to see what’s new on your dashboard


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.

African American Family at Dinner

Family Health History Day

Why You Should Be Talking about Family Health History this Holiday Season

As the year draws to a close and families gather together for the holidays, many have a lot to share for the first time in two years. One of the many conversations likely to come up is health history.

After living through more than 18 months of a global health crisis with the COVID-19 pandemic, family health history has become even more critical. Those with certain genetic or pre-existing conditions such as diabetes, cancer or compromised immune systems have been especially vulnerable to the virus.

Thanksgiving is a time to celebrate our history and our family, which makes it a perfect time to talk about family health history. That’s why this year, November 25 is also Family Health History Day.

Developing an open conversation about health can have benefits not only for you but for your children and extended family. It’s important to document family members’ major health conditions and rare diseases, including the age of diagnosis, ethnicity, and lifestyle information, such as smoking or exposure to chemicals like Agent Orange, diethylstilboestrol (DES), or asbestos.

How to Start the Conversation

While you may want to talk about when you had your first colonoscopy, your teenage nephew might not be so enthusiastic. Develop a plan for how you want to approach the conversation before you gather over the turkey.

  1. Let your relatives know you are putting together a family health history and would like their help. This gives them time to consider their own health history and look for family documents and photos.
  2. Provide specific questions to help them understand what you’re looking for. It may be well known by the extended family that your maternal grandmother died of cancer, but it may not be common knowledge that it was a rare type of leukemia, or that she also had survived breast cancer in her 40s.
  3. If you’re able to gather for Thanksgiving, or other family occasions, share stories and ask questions. While you thought Uncle Sam died of a heart attack ten years ago, Aunt Nora can confirm that it was a pulmonary blood clot.
  4. While it may seem unrelated, knowing your relatives’ ethnicity, occupation and chemical exposures may also clue you in on health history. Those with Ashkenazi Jewish heritage have a higher risk of certain cancers. Shipyard workers exposed to asbestos are at an increased risk of developing a rare cancer called mesothelioma.

Understand the Challenges

Many family members, especially those in certain cultures and generations, may not feel comfortable diving into complex and sensitive health topics, so it’s important to be sensitive and respectful.

Asking close relatives for help speaking with other family members or explaining why it’s important to discuss these matters may help them feel more comfortable. Other topics may take more time and sensitivity, such as miscarriage and deaths from diseases that carried a past stigma, such as cancer, AIDS and cirrhosis.

Sharing and Using Your Family Health History Responsibly

Developing a family tree that documents significant health issues, age of death, and other important facts can help determine potential hereditary trends. Pair the information with genetic test results and your medical history, and ask your medical provider for insights. Your clinician may recommend lifestyle changes, additional screenings or follow-up tests if needed. Sharing the information with family members can help them do the same.

While Thanksgiving is considered Family Health History Day, it doesn’t mean the conversation has to end when dessert is served. Having the information on a shared and secured platform can assure that the data is readily accessible for family members and can be easily updated as new diagnoses, exposures and other information is recorded.

Contribute to Research

While your family health history can provide a trove of data for you and your family to make future health decisions, it can also be vital for research. Taking the Family Health Surveys that are included in the “Tell Us About Yourself” study from Luna can provide researchers with data on family health, hereditary diseases, and potential effects based on lifestyle and exposure. And because it’s on the Luna platform, the information is secure, private, and still controlled by you.


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.

How Modern Data Privacy Laws Enables Research

Now that data privacy laws have become more globally widespread, existing institutional systems for data aggregation have been slow to adapt to support general health research.

In this webinar, Luna’s Chief Information and Privacy Officer, Scott Kahn, explores the common framework of General Data Protection Regulation (GDPR) and related regulations and suggests a path forward through privacy-by-design research.

About Scott Kahn

Scott Kahn, PhD. is the Chief Information and Privacy Officer at Luna, a private investor-owned company founded in November 2017. The public benefit corporation is chartered to drive societal value through the aggregation and organization of genomic and health data at a scale and diversity rich enough to solve today’s greatest health challenges. LunaPBC founded LunaDNA, the world’s first community-owned health database that offers shares of ownership to health data contributors. Scott is integrating data privacy and security provisions that comply with GDPR and HIPAA at LunaDNA. Scott is also on the Board of Directors at Rady Children’s Institute for Genomic Medicine and was the former Chief Information Officer and Vice President Commercial, Enterprise Informatics at Illumina. 

About Genetic Alliance

Genetic Alliance, a non-profit organization founded in 1986, is a leader in deploying high-tech and high-touch programs for individuals, families, and communities to transform health systems by being responsive to the real needs of people in their quest for health. The alliance is comprised of 10,000 organizations, 1,200 of which are disease and patient advocacy foundations, and include community health programs, employee wellness programs, local nonprofits, religious institutions, and community-specific programs to grow and expand their reach and mission.

Celebrating Dr. Carlos Bustamante, National Hispanic Heritage Month 2021

Having a father as an infectious disease doctor brought Carlos Bustamante an early exposure to medicine. But still, Carlos always imagined he would grow up to become a lawyer. With a confident demeanor and powerful voice, Carlos could command a room. He thrived in debate club and theater classes and had been convinced since he was young that law would suit him best.  

If not for his nomination by his high school to go to the National Science Foundation Camp, his affinity for legalese and legal arguments may have taken root. Instead, science camp hastened his curiosity toward science. 

Carlos would go on to spend his last high school summer learning modern physics and applied mathematics, which served as his first immersion in STEM — and his introduction to people who shared a passion for it. “I began associating myself with the kids who’d much rather spend their summers at math and science camp instead of the other cool things high school kids could do in Miami,” Carlos said. “Nerd-Carlos was able to realize his full nerd-potential.” This opened his world up to new possibilities and influenced his education and career journey to genomics and health.  

Fast-forward to today, when Dr. Carlos Bustamante has built upon those underpinnings from a teenage science camp to become a prominent scientist, investor, and academic accelerating genomic discoveries in understudied human populations. In honor of Hispanic Heritage Month, Carlos shares more with us about his life, education, career, and how he became a world-renown leader in science pioneering initiatives that ensure representation and inclusion in health. 

Hi, Carlos. Thanks for taking the time to share more about your life and career journey with us. Can you tell us more about your life growing up as young Carlos?  

I migrated to the United States from Venezuela when I was seven years old. When we arrived in Maryland, there were no Latinos. We had to travel all the way to Washington D.C., about an hour away from our house, just to experience anything that reminded us of home. It sometimes felt like I was a fish out of water. Believe it or not, when we moved to Miami during my high school years, I experienced culture shock. So many people were speaking Spanish, it was fascinating! Suddenly, the tables were turned. I went from being part of the minority to part of the majority. 

As we study the African American and Hispanic/Latinx populations, we’ll get admixed data, sure, but it will then require us to think about admixture. Admixture is a part of life and we must embrace that.”

What inspired you to eventually channel your career towards population genetics?  

I discovered population genetics shortly after high school. My AP Biology teacher gave me a book upon graduation, The Genetics Basis of Evolutionary Change, by Richard C. Lewontin. It was a beat-up, old copy but I read it with pure fascination. “Wow, this is incredible,” I thought. I had enrolled in a 6-year BA/MD program at the University of Miami and started working in a research lab. One day, by sheer luck, I stumbled upon a lecture by a former post-doctoral fellow of Richard C. Lewontin who emphasized the power of understanding genetics, evolution, and what they can tell us about human traits. I went to many lectures after that, took countless biology classes, and came to the realization that my educational path needed some modifying. I thought to myself, “I don’t think I want to give up two years of school in replace of work. I’d much rather focus on school for the next four years and figure out what I want to do after then.” So, I decided to pull out of my program and transfer to Harvard, where eventually I had the opportunity to work directly with Richard C. Lewontin himself.

STANFORD, CA – SEPTEMBER 20: Population Geneticist Dr. Carlos Bustamante is photographed at the Stanford Medical Center in Stanford, CA for the MacArthur Foundation Awards. (Photo by Don Feria/Getty Images for The MacArthur Foundation Awards)

What a great introduction to science! How did this further influence your career in genetics?   

Between 1994 and 2001, I learned everything I could about population genetics and statistical genetics. When I applied to my MD/Ph.D. program, my goal of bringing complex disease genetics to medicine was shot down by so many people. They would tell me I was crazy and that it’d never work. “We don’t even have the human genome complete,” they would say. “You should really go study molecular biology and developmental biology.” In fact, even Lewontin said to me, “That’s a terrible idea. Theoretical population genetics is really hard and you’re likely never going to get a job.” It was all that I wanted to do, so I figured if it did not work out, I will drive a taxi or something.  

I finished my Ph.D. program in 2001, and fortunately for me, the human genome project was completed just three months before.  

I started teaching statistics at Cornell University after my Ph.D. and postdoc and worked with Andy Clark on a database of human genetic variations. I spent 3 years mining data and together, we wrote 7 Nature and Science papers off my dataset that ultimately set my career. I eventually was awarded tenure and made a Full Professor at Cornell University and gave me the opportunity to start a new Department from scratch as inaugural Chair of Biomedical Data Science, where we did a bunch of human-genome-like projects.  

Between 2004 – 2007, if there was a principal component plot that had multiple populations in it, odds are it came from Bustamante Labs

That could not have worked out any better for you – great timing. You were part of the 1000 Genomes Project. How was that experience?  

It was eventful. During the 1000 Genomes Project, Francisco M. De La Vega and I pushed to sequence the first Mexican genome and the first African American genome. The project concluded with 2,500 samples, but that was never the original design. The original design only included samples from Africa, Europe, and Asia. They never intended to have any samples from the Americas or South Asia, for several reasons. Because we understood the importance of the patterns of add mixture, we raised our hands and said, “No, this is wrong. You can’t exclude people. This is a missed opportunity.”  

Dealing with vulnerable populations and populations that do not wish to participate in biomedical research is a tough problem. You obviously want to respect and honor that. At the same time, if our number one goal is to enable medical and disease genetics at scale, then we don’t need a perfect population model, we need patient engagement. As we study the African American and Hispanic/Latinx populations, we’ll get admixed data, sure, but it will then require us to think about admixture. Admixture is a part of life and we must embrace that.  

The 1000 Genomes Project went from 1,200 samples to 2,500 samples, partly because a passionate group of us got together and said, “This is important, the data is telling us it’s important.” We made rational scientific arguments that ensured the medical genetics studies that we are powering are properly powered in these understudied populations.  

My whole motto for running my lab is, ‘Come in, build something cool, and take it with you.’ ”

As they say, never underestimate the power of passion. What are you working on now? 

Having spent some time at Cornell and Stanford and advising companies like Luna creating innovative technology for health discovery, my next passion project is to scale. We need to have a million genomes networked with clinical data across a wide range of diseases that will power a ton of discovery.  

During COVID, I spent some time at Stanford sequencing patients. My hypothesis from this experience is that through sequencing COVID-19 discard, you can build an incredible database. Nearly everyone has had a COVID-19 test or two and if we had access to that material and permission to sequence their genome, we could build the world’s greatest databases. And I’m particularly excited to focus on the Latin American population, because of its significant impact by COVID and its underrepresentation in research. 

You have worked on so many projects that have positively changed health discovery as we know it. Of your entire experience, what are you most proud of?  

The network of talented people who have trained and collaborated with me – these people I will stack against anyone. My former students and post-docs are now running the big biobanks at Mount Sinai they are playing major roles in 23andMe and Ancestry.com. It has been an embarrassment of riches, and I am so proud of them.  

My whole motto for running my lab is, “Come in, build something cool, and take it with you.” Now this network is passionate about coming together to work on a big mission, a mission to build the largest database of Hispanic/Latinx genomics and health data relevant to testing and eventually to pharma.  

Great motto and inspiring story you have experienced so far. Thank you for all your dedication.  

Genevieve Lopez
Head of Digital Engagement at Luna
gen@lunadna.com
(760) 218-8333

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.