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.

Beery family

Rare Disease Day: Transforming my Personal Experience into Technology

Ever since Rare Disease Day was established in 2008, I’ve viewed it from two lenses: as a parent to two young children with a rare condition and as a professional whose career has been focused on the technology to help people live healthy lives.

I became a member of the rare disease community when my twins, Noah and Alexis, were born. We didn’t know it at the time, but they had a genetic condition that caused a life-threatening deficiency in their dopamine and serotonin levels.

Rare diseases are often misdiagnosed

When the twins began to have severe and debilitating muscle spasms, they were ultimately diagnosed with cerebral palsy at age 2. Unfortunately, as many in the rare disease community have experienced, misdiagnosis is common.

After four years of research, my wife, Retta, who was not convinced with the diagnosis, read medical journals, articles, talked to researchers and met with doctors, eventually discovering our twins’ diagnosis of dopa-responsive dystonia, which can cause muscle contractions, tremors and uncontrolled movements.

Noah, Alexis, and Zach Beery
Noah, Alexis, and Zach Beery

After a confirmatory diagnosis and prescription, the twins rebounded and began to thrive. They went from a life of wheelchairs and feeding tubes to dance, gymnastics, and every sport they always dreamed of playing.

It took five years to correctly diagnose them with dopa-responsive dystonia, and another 10 before whole-genome testing would reveal the mutation that caused the serotonin deficiency—and how to treat it.

Since that time our ability to diagnose, treat, and provide quality-of-life benefits to people with rare diseases has increased exponentially. The diagnostic journey we experienced with Noah and Alexis took 15 years. That journey today would be, in some aspect, days or even hours.

Accelerating progress for people with rare diseases

Our ability now to look at clinical data, genomics, and ultimately proteomics, allows us to bring more facts to the table—and not just for Alexis and Noah.

After the twins were diagnosed, we worried that Zach, our oldest son, may also have the disease, especially since it can manifest at any age. Any time Zach got sick, we didn’t know if it was something as benign as allergies or if it was the initial symptoms of dopa-responsive dystonia.

Genetic testing gave us clarity to know what was causing the twins’ symptoms and how to treat them, but it also confirmed that Zach didn’t have the genetic markers.

Today’s genomics technology can show you a life-threatening genetic mutation hidden in your DNA, but it also can show you that it’s not there at all—and that can be just as valuable.

With genomics, the likelihood of living with a misdiagnosis lowers exponentially. The speed and accuracy of today’s technology are changing the world for those in the rare disease community and beyond.

How Luna empowers the rare disease community

My work at Luna is personal because I’ve seen the power of communities connected by, through, and for research, with amazing results. These results simply would not have happened in a traditional engagement with the healthcare system. The Luna platform empowers communities to digitally mobilize, gather their health data, develop solutions to their questions, and partner with industry and researchers to find answers.

We are proving that there is a way to simultaneously create connections among individuals in a group and across groups, industry leaders, and scientists to help solve health challenges. It’s a win-win-win.

We’re working together to help improve the human condition.

Our twins are now 25 years old. They are thriving in ways we didn’t think possible for the first decade of their lives. Looking back, we didn’t even know if they would survive this long.

Rare Disease Day continues to be a celebration for our family, not just on the day, but every day. I continue to be encouraged by the progress made in the rare disease community, by the connectedness, support, and also the partnerships between patients and researchers.


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.


Joe Beery

Joe Beery

CHIEF EXECUTIVE OFFICER

Joe is a transformational executive with deep experience leading strategic technology operations, digital transformations, and disruptive innovation across industries. His twin children were born with a rare genetic disorder that was undiagnosable until they underwent next-gen sequencing. Since this life-saving breakthrough, Joe is dedicated to helping advance the use of genomics to give families of children with rare diseases answers and opportunities for treatment.