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The All of Us Research Program now partners with more than 800,000 participants who share their health data. With that many people, it’s no surprise that many participants share with us that they have common conditions, like diabetes and asthma.
But a lot of participants also have conditions that are much less common. We are all different, after all. And our health is unique to us.
“Rare diseases” are conditions that affect fewer than 200,000 people in the United States. All of Us participants give researchers a unique chance to study rare conditions. More than 100 All of Us research projects on rare conditions are now underway. Researchers are studying multiple sclerosis, Ehlers-Danlos syndrome, sickle cell disease, cystic fibrosis, and many other conditions.
The data shared by All of Us participants can help researchers learn more about these rare conditions. Researchers can then find what causes them, for example. And how well different treatments work.
Traveling Without a Map
There are certain challenges that come along with having a rare condition. First of all, it can be hard to get an accurate diagnosis. Your health care provider may never have seen anyone with your condition or set of symptoms before.
But even once you know what rare condition you have, your health care provider may not know how to treat it. Many rare conditions are not well understood. They may not have good treatments.
That’s because it’s hard to do research on rare conditions. Scientists can have trouble finding enough people with a specific rare condition to study it. That’s another reason a long-term research program like All of Us is so important.
Many rare conditions are caused by a change in your genes. That means the genome data that comes from All of Us participants is very important for understanding these conditions.
“Scientists studied the All of Us genome data and found more than 1 billion genetic differences. About 275 million of these are new and haven’t been seen before. This huge amount of genetic information, thanks to the diverse backgrounds of the people in the program, can help find and confirm genetic changes that cause rare diseases. This could finally give answers to patients and their families who have been searching for a diagnosis,” says Geoffrey Ginsburg, M.D., Ph.D., the chief medical and scientific officer of All of Us.
A New World of Data
Doctors learn the phrase “When you hear hoofbeats, think of horses—not zebras.” It’s an important reminder that, most of the time, symptoms are caused by a common condition. Rare conditions are the zebras.
All of Us gives researchers something they’ve never had before: access to data from a huge group of people with rare conditions. That means that for some conditions, scientists can do bigger studies than they’ve ever done before.
Researchers found 74 participants with one gene variant that causes a condition called VEXAS syndrome. Most were women. But most people known to have VEXAS in the past were men. Many of the people did not seem to have signs of the condition. That’s useful information for scientists who want to understand how VEXAS syndrome works.
Other researchers studied a skin condition called morphea. Even though it’s rare, more than 800 All of Us participants had a case of morphea in their medical records. Data from all those health records helped researchers learn what other conditions morphea may be linked to. They already knew about some. But others were brand new. They also found that some conditions they thought were linked to morphea are actually just as common in people without morphea.
In the same way, scientists can use All of Us data to learn what symptoms go with a condition. They can see when a person first experienced those symptoms. Or they can use EHRs to see what medicine most people take for a rare condition. EHRs can help show whether that medicine is working, or if it has any side effects. Researchers with this access could even discover new gene variants that link to rare conditions.
A Holistic View of You
One thing that makes All of Us unique is that participants share data on much more than their health. They fill out surveys about their life, work, neighborhood, and more—all of which can affect health. Survey data helps researchers understand participants on a deeper level. Which can help researchers explore the causes of both rare and common conditions. And we can do so for many years.
For example, researchers recently studied a rare condition in which pressure rises inside the skull. It can cause headaches and even vision loss. Researchers knew that this condition is more likely to affect lower-income women. But All of Us data gave them lots of new information. Health records and survey responses showed, for example, that people with the rare condition were also more likely to be unemployed. And to have transportation difficulties. And to struggle to afford copays for health care.
That level of detail and nuance could be a game changer for precision medicine. Knowing that people with the same rare condition have other factors in common can give researchers a leg up. It could even help them find out what causes the condition. With more knowledge about the causes, it might be possible to find new ways to help people who suffer. The research could then lead to new treatments. Or even being able to prevent the condition from developing in the first place.
More than 805,000 participants who have completed the consent process.
More than 548,000 participants fully enrolled.*
More than 10,600 research projects are using All of Us data.
*Fully enrolled participants are those who have shared their health information with All of Us, including giving blood and urine or saliva samples.
Let’s say you participate in the All of Us Research Program. You were asked if you wanted to donate samples and said yes. So your blood and urine or saliva were collected.
But what happened after that? Where did those samples go? And what were they used for?
They go to a place called a biobank. That’s a storage facility where biological specimens are frozen and kept safe and ready for health research. Samples are important resources for many researchers. For researchers who study personalized medicine, they are essential.
Since 2016, the Biobank at Mayo Clinic has stored samples for the All of Us Research Program. Mayo’s main facility in Rochester, Minnesota, now has more than 10 million samples from All of Us participants. (About 2.3 million samples are stored in Mayo Clinic Florida, a backup facility in Jacksonville.) And more arrive every day.
Mine S. Cicek, Ph.D., is in charge of the Mayo Clinic Biorepositories Program. Dr. Cicek is a molecular cancer genetic epidemiologist. For years she studied genes involved in prostate, colon, and ovarian cancers. Then her job running the biobank became her main focus.
Samples are a key part of our research program. To learn what happens in the deep freezers of our biobank, we recently sat down with Dr. Cicek.
All of Us: What’s your background like? When did you arrive at the Mayo Clinic? And when did you start working with All of Us?
Mine Cicek: I'm from Istanbul, Turkey. I got my undergraduate degree in biology there, then came to the United States to do my master’s and Ph.D. at Virginia Tech. After I earned a doctorate in genetics, I went to Cleveland Clinic to study cancer biology. I did my postdoc there, and in 2005 came to Mayo Clinic to do a three-year fellowship. I stayed on as a researcher for the next 11 years, studying cancer.
Ten years ago, I became the director of the Biorepository Laboratory here at Mayo. Then two years ago, I was named head of the whole Biorepository Program. That means overseeing three labs—one here in Minnesota and two other sites. Mayo was awarded the All of Us biobank partnership in 2016, and that’s when we started receiving All of Us samples. So, I’ve been working with the research program since day one.
All of Us: What has that relationship been like? And what are some of the biggest changes you've seen over six years?
MC: Biorepository work has decades of history at Mayo, so this is not exactly new for us. We support hundreds of Mayo investigators and other investigators outside of Mayo.
But All of Us is by far the largest project we’ve ever worked with. Fortunately, it aligned really well for us as a larger-scale version of what we've been doing. We just had to scale everything way, way up. If we had one instrument of a kind, we got another dozen to meet the demand. And we’ve built upon our IT infrastructure, so we automate a lot of things.
We also partner with Mayo Medical Laboratories. It's a reference lab arm of the Mayo Clinic. It includes all 50 states and more than 300 couriers. That ensures the shortest transit time possible for specimens. Our goal is to get samples from the collection site to the biobank within 24 hours. And the optimal amount of time to do everything is 40 hours. That’s to collect a sample, transport it to the biobank, process it, and then store it in our freezer.
Which can be challenging. Let’s say a sample is collected in San Diego. All of Us partners there with a Federally Qualified Health Center called San Ysidro Health. The distance from that facility to Mayo in Rochester, Minnesota, is nearly 2,000 miles. Now think of all the things that could slow that journey. Bad weather. A problem with the plane engine, or maybe a flat tire on the ground transport. A missed connection by a courier. There’s a lot to plan and account for.
The good news is that most of the infrastructure was in place from the beginning. There are now 873 collection sites around the country. Many of them were already members of the Mayo Medical Lab when All of Us started. So, on day one we were ready to receive samples overnight in a very cost-effective way, then centrally process them here.
All of Us: How many All of Us samples are stored there now?
MC: Well, the program collects eight tubes from each participant who provides a blood sample. They give blood, urine, and, in some cases, saliva (not everyone donates all three samples). We receive samples from about 400 participants a day.
We process the samples from each participant, which is about 25 to 30 aliquots [portions of a larger sample]. One participant equals eight tubes total, divided into 30 aliquots. That total—which sums up to nearly 10,000—is how many samples a day we’re adding to our freezers right now.
Overall, we’ve received close to 2.8 million tubes. Right now, we have more than 10 million samples total. When All of Us reaches its 1 million cohort, we’re expecting to have nearly 30 million samples in our freezers available for research.
All of Us: How big is the biobank facility? How many people work there? And what are the storage protocols?
MC: In 2016, when we started, the space we used was 35,000 square feet. Today, we have a 100,000-square-foot facility for processing, storage, and distribution and almost 120 full-time employees, which is about twice the number we had eight years ago.
Some areas of the biobank are staffed 7 days a week to make sure the operation is functioning properly. We usually receive samples starting at 6 a.m. Our crew handles and processes all the specimens we receive, noting the time and day of receipt, putting everything into freezers, and making sure the samples stay frozen. We have metrics for the whole process.
The same is true for storage conditions. All blood, saliva, and urine samples are stored at -112 degrees Fahrenheit (-80 degrees Celsius). We also have a subset of whole blood derivatives. Those are stored at the same temperature as liquid nitrogen, which is below -238° F (-150° C).
All of Us: What are the biggest challenges of overseeing the biobank?
MC: The challenges come into play when there are deviations. Our main goals are no sample loss and preserving the quality and integrity of the samples. But if samples arrive really late or are damaged, then we can't process them. When that happens, we notify the collection site. Usually, we recommend that the participants return for a sample redraw.
Lots of samples arrive every day as well, from all over the nation. And we have to process all of them in real time. When you work with biospecimens, you can’t really say, “Oh, I'll do the rest tomorrow.” That’s not possible.
All of Us: What might readers be surprised to learn about the biobank?
MC: When I give tours, people are like, “You have hundreds and thousands of things coming in! And your samples don’t even have names on them—just barcodes. How do you know who's who or what's what?”
They don't know that we have a super sophisticated system. It’s almost all automated and hands-off. Each sample is coded in our database according to All of Us protocol. We put the collection tube into the automation, it registers that sample, processes it, and splits it up into smaller portions. Then we take each sample, put it in a box, and put it in the freezer.
Then, when I scan a barcode, the system tells me, “This sample was collected on June 24th of 2021. There is this much volume in this tube.” Everything we know about that individual’s sample. That's pretty amazing.
Personal information is very carefully protected. All samples are labeled with a number. That keeps identifiable information out of the system and safeguards a participant’s identity.
And we keep close tabs on where everything is. Every tube we receive and every aliquot we create is monitored. I know all 10 million samples we have and where they are in this enormous freezer. There is order to everything.
All of Us: Anything else you’d like to add as All of Us reaches its sixth anniversary?
MC: I would tell participants that no matter what project or program they’re involved with, they are the most important part. The participants come first.
And even though here in the biobank we don't get to see the participants, every single tube represents a person. That’s why we treat all the samples carefully—and equally. We understand how important each person’s participation is. We respect it and want to acknowledge it at every level. We want to support everyone who donates their time and samples to All of Us.
Because every participant matters to us. Everyone has value.
This interview has been edited and condensed for length and clarity.
What do bread, pasta, cake, and some medicines and lip balms have in common? They can all contain gluten.
Gluten is a protein that gives food its texture and flavor. It also helps things like medicines and lip balms keep their shape. As you can see, it’s a very common ingredient.
But what if eating gluten makes you sick? That is a problem that people with celiac disease face. May is Celiac Disease Awareness Month, so it is a perfect time to talk about what this disease is—and what researchers using All of Us data are doing to study it.
What Is Celiac Disease?
Celiac disease is an immune disorder. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) says about 2 million people in the United States have it.
People with celiac can’t digest gluten. Instead, their body thinks gluten is a threat. Their immune system overreacts. That causes damage to the person’s small intestine. And that can lead to a lot of digestive problems. The person might have bad stomach pain and nausea. They may even vomit. If celiac becomes too severe, the small intestines can be permanently damaged.
The immune system’s response makes it harder for the body to get nutrients from any food—not just gluten. This impact on nutrition can then lead to problems with the bones or the body’s other organs.
Researchers are not sure how someone gets celiac disease. It can be diagnosed at any age. Genetics may play a role in who gets the condition. But the foods people eat and the differences in their stomachs could also interact with genetics to cause celiac disease.
What Isn’t Celiac Disease?
Celiac disease can be hard to study because other conditions affect how well someone digests gluten.
For example, some people may be allergic to wheat—this is a different immune system response to gluten. A person allergic to wheat may feel itchy or even have trouble breathing after they eat it.
Many people also have gluten sensitivity. They may have many of the same symptoms as those with celiac disease. But these symptoms are not because of damage to the small intestines.
There is currently no treatment for any of these conditions. The only way to manage them is to avoid gluten. But that can be hard to do because so many foods and products have gluten in them.
Researchers today are trying to learn more about celiac and how to someday treat it. Some of that research is happening thanks to All of Us.
How All of Us Is Fueling Research on Celiac Disease
More than 1,900 All of Us participants have celiac disease. This information from electronic health records (EHRs), combined with surveys, samples, and Fitbit data, is helping to support research on this disease.
For example, researchers are now studying how celiac affects people from different genetic ancestry groups. Researchers are also studying how celiac affects people from different regions of the United States.
Researchers want to know if other conditions occur with celiac disease as well. That may help them better understand this immune disorder. It may even inform future treatments.
Learning More About Celiac Disease and Nutrition
NIH research shows that many people with celiac disease may not know they have it.
If you find yourself in pain or discomfort after you eat gluten, talk to your doctor. They can run tests for celiac disease and other gluten-related conditions. Your doctor can also help you manage your symptoms.
Celiac and other conditions show how personal nutrition can be. The National Institutes of Health is trying to understand why people respond differently to food. As an All of Us participant, you may be able to help. If you’re eligible and you live near an enrollment site, you might choose to join the Nutrition for Precision Health study. In this study, participants track what they eat. They then share samples and data from wearable technology with researchers.
To learn more about celiac and other gluten-related conditions, visit NIDDK’s website.
You can also visit the Research Projects Directory to see celiac research that uses All of Us data.
It can be hard to find good substitutes for foods like cake and pasta. And wondering if a medicine has gluten in it can be costly and stressful. Fortunately, ongoing studies may help researchers someday learn why some bodies do not respond well to gluten. That could help them learn more about celiac disease or other conditions that affect nutrition.
Normarie Torres-Blasco, Ph.D., is dedicated to finding solutions, improving health care access, and integrating mental health into standard care treatments. She’s been a patient, a caregiver, and a researcher. It is this combination of experiences that has led her to dedicate her career to studying the connection between mental illness and chronic illnesses.
Dr. Torres-Blasco’s path to health research can be traced back to when she was starting her undergraduate studies in 2009. She was living with her great-grandmother, Norma, for whom she was named, helping to oversee her end-of-life care in Ponce, a large city on the southern coast of Puerto Rico.
Norma suffered from depression after losing her husband of 62 years. Finding therapy was a challenge. Her great-grandmother developed dementia, declined rapidly, and passed away within a year. She was 88. Dr. Torres-Blasco was 18.
“I was very close to her,” she said. “If I had had the knowledge or resources, maybe my great-grandmother would have been with me longer.”
This life-changing experience helped her find her calling—observing and documenting the need to integrate mental health interventions with end-of-life treatments.
A Path to Research with All of Us
Dr. Torres-Blasco completed her Ph.D. in clinical psychology in 2018 from Ponce Health Sciences University and was motivated to translate the findings of her research to improve health care access and reduce health disparities among Latinos. She first heard about All of Us at a cancer research conference for Latinos and is now a registered All of Us researcher.
“There is strong evidence showing how cancer outcomes are impacted by mental illness,” Dr. Torres-Blasco said. “I started thinking about how cancer patients at the end of life needed mental health services, just as my great-grandmother did.”
Through the support and guidance of her mentor, Associate Professor Eida Castro-Figueroa, PsyD, Dr. Torres-Blasco has ongoing research examining the prevalence of cancer rates in Puerto Rico and co-existing chronic health conditions. Ponce is surrounded by rural communities, some in distant mountain regions, with severely limited access to health care, Dr. Castro-Figueroa said.
“She is so focused and passionate about science and serving underserved populations,” said Dr. Castro-Figueroa. “I will always remember our first meeting. Her life experiences really informed her research in a deep way.”
The two began collaborating on health disparities research documenting the prevalence of late-stage cancer diagnosis of Latinos who have less access to early detection and few psychotherapy and communications interventions in Spanish for patients and caregivers.
Already, Dr. Torres-Blasco has co-authored 21 papers in peer-reviewed journals and is developing a model intervention for advanced cancer treatments that combines communication skills training and psychotherapy for both patients and caregivers. She is an early-stage investigator on a Research Centers in Minority Institutions (RCMI) program grant from the National Institute on Minority Health and Health Disparities, which includes supplementary funding from All of Us.
The RCMI program aims to advance novel biomedical research and foster careers for researchers from underrepresented communities. The All of Us Division of Engagement and Outreach is committed to expanding the number of early-stage scientists, particularly from communities historically underrepresented.
“Researchers from diverse backgrounds bring robust perspectives to the program,” said Karriem Watson, D.H.Sc., M.S., M.P.H., All of Us chief engagement officer. “Dr. Torres-Blasco incorporates her lived experiences and is giving back to her community by advancing health knowledge.”
Her research aims to document the interconnections of chronic health and mental illness in Latinos by studying the incidence of chronic health conditions, such as cancer, heart disease, and diabetes, among those with a history of mental illness. The research is novel in studying the interplay of ancestry and genetics as contributing factors of chronic conditions, health disparities, and mental illness in Latinos.
“People with mental illness have a higher morbidity and mortality rate due to preventable chronic diseases,” Dr. Torres-Blasco told a group of researchers and All of Us Research Program staff at a presentation at Ponce Health Sciences University.
To explore these connections, she taps into the All of Us Researcher Workbench. Dr. Torres-Blasco aims to develop an intervention model to address health care access gaps and disparities.
“I want to make the point that we need more services in mental health for Latinos coping with chronic health conditions,” she said. “That’s one of the main goals of my research with All of Us.”
Dr. Torres-Blasco joined a panel at the 2024 Researcher's Convention with Dr. Watson and All of Us Participant Ambassador Ray Lay discussing the importance of mental health research.
A Patient’s Perspective: Living With a Rare Heart Condition
While her family and community have been a guiding force in her career, Dr. Torres-Blasco, 32, also personally understands the challenges patients face. She has lived with a chronic heart condition her entire life.
Her own health troubles began at a young age growing up in Yauco, a rural community outside Ponce. At age 5, while learning to ride a bicycle, she felt a sudden, sharp stab in her chest and collapsed on the ground. Doctors didn’t see any need to perform tests on a young child and said she just needed to get back on the bike and try again; however, these episodes continued through adolescence and young adulthood.
“When I had pain, I would lose consciousness, my body would shut down,” she said. “I tried to accept it and just deal with it.”
Doctors continued to dismiss the signs, telling her and her family that she was dramatic and overly emotional. Finally, at university, she requested an appointment with a cardiologist to test the electrical activity of her heart through an electrocardiogram. They found abnormal activity and told her she had arrhythmia, an irregular heartbeat that can cause complications when the heart’s electrical signals misfire.
She received medication, but the fainting spells continued. Dr. Torres-Blasco knew something was more serious. In 2018, after graduating with her doctoral degree, she married her longtime partner, Jose Oscar Santiago. It was a happy and calm time, yet soon after getting married, she experienced another painful episode. She requested more testing and was finally diagnosed with neurocardiogenic syncope. This rare disorder is poorly understood and triggered by the body’s abnormal or heightened response to various stimulation.
As part of her treatment, Dr. Torres-Blasco received a pacemaker which has dramatically improved her condition and her daily living. In 2021, despite serious childbirth complications, she was able to give birth to a healthy baby girl, Stella.
A Focus on the Future in Ponce
Dr. Torres-Blasco shares the obstacles she has overcome to help build solutions for others. Her guidance and mentorship with Dr. Castro-Figueroa helped her create a collaborative partnership with the students she mentors. She advises graduate students to speak up, trust their instincts, and refuse to let others dismiss them.
“I am an open book,” Dr. Torres-Blasco said. “When young women start in my lab, I share my experiences. It is hard for us as women to speak about problems.”
Dr. Castro-Figueroa attributes Dr. Torres-Blasco’s success in part to her willingness to share challenging experiences.
“She is a champion. She shares the lessons she’s learned through her lived experiences, how she has overcome obstacles,” Dr. Castro-Figueroa said. “It allows students to think about maybe their own pitfalls and to sit down together to solve them.”
It’s these experiences—as a researcher, caregiver, and patient—that drive Dr. Torres-Blasco’s commitment.
“I want to give back to my community,” she said. “That is why I have stayed in Ponce.”
All of Us Says Good Morning America!
Earlier this month, ABC News correspondent Becky Worley shared her journey as a new participant in the All of Us Research Program during a wellness segment of Good Morning America. Missed it? You can watch on the Good Morning America website.
Research Highlights
Check out our recent April Research Highlight.
Nearly 86,000 teens and young adults in the United States find out they have cancer each year. Researchers used All of Us data to learn about the health challenges these people can face—even after cancer treatment.
Visit the Research Highlights homepage to learn more about how All of Us participants are enabling discoveries and research insights.
Journey Bus
Wondering where the All of Us Journey Bus is headed? Our buses go to different communities all over the country. When you visit, you’ll see firsthand how joining health research studies can make a big difference in precision medicine’s future. If you’re curious, you can also sign up to be part of All of Us. See where we’re headed next in these cities: