Meet 4 Patient-Led Communities Accelerating Rare Disease Research

What do business executives, stay-at-home moms, a PhD scientist, community organizer, computer scientist, and former professional basketball player all have in common?

These individuals are some of the inspiring leaders of patient-driven organizations fighting tirelessly for cures, treatments, and therapies to one of 7,000 known rare diseases.

As part of the Rare As One Project, we’re supporting 30 patient-led rare disease organizations that are working to develop and strengthen a collaborative research network in their disease area, convene their research community, and align around shared research priorities. While they come from many different backgrounds, they each bring their unique experience, talents, skills, and direct insights to their work leading their rare disease organization.

In the past year, we have learned a tremendous amount from and alongside our grantees as we have worked in partnership to understand how we can optimize the power of community and develop the Rare As One Project — from the need for incubator programming, to how the network effect has allowed grantees to identify synergies across disease areas. Based on these learnings, we’re excited to expand the program — starting in March, we will be soliciting proposals for the Cycle 2 of the Rare As One grantee cohort. Read more about the learnings from the first year of the Rare As One Network and learn about the new Rare As One RFA.

CZI offices illuminated for Rare Disease Day 2021.

Progress by the Numbers

Despite facing significant challenges brought on by the COVID-19 pandemic, we’re extremely proud of the incredible work our grantee organizations — and their research communities — have made toward their goals:

  • All 30 organizations have expanded their networks, identifying key researchers in their disease areas;
  • 7 hosted international scientific meetings — with the remaining groups set to host meetings in 2021;
  • 9 developed a prioritized research agenda — with 7 more in progress.

In addition, several organizations have made substantial advances far beyond the scope of the original grant:

  • 7 organizations developed major partnerships with biotech/pharmaceutical companies
  • 6 launched clinical registries
  • 1 launched a biobank
  • 1 launched a clinical center
  • 1 entered into a clinical trial
  • 7 developed a diversity, equity, and inclusion policy for their organization.

Read on for some of the inspiring stories of progress our grantees have made in their first year as part of the Rare As One Network.

NEC Society

Jennifer Canvasser and her family. Photos courtesy of Jennifer Canvasser.

Necrotizing enterocolitis (NEC for short) is an intestinal disease that primarily affects infants who are born prematurely or with a medical condition — impacting thousands of premature infants every year. Jennifer Canvasser’s son, Micah, developed NEC when he was six weeks old and died from complications of the disease just before his first birthday. After Micah died, Jennifer discovered that there wasn’t an organization focused on NEC, so she leveraged her background in community organizing to establish the world’s first NEC organization — the NEC Society.

In their first year as part of the Rare As One Network, the NEC Society has leveraged their network of clinicians and researchers, conducted an organization-wide digital analysis, expanded their Board of Directors, hosted educational webinars on the long-term outcomes of NEC, and established an inclusivity policy to incorporate diversity, equity, and inclusion into all levels of the organization. They’re also in the process of planning a series of virtual, interactive sessions for NEC Awareness Week in May 2021, bringing them one step closer to better understand, prevent, and treat this rare disease.

Project 8p

Project 8p founder Bina Shah hugging an 8p hero. Photo courtesy of Project 8p.

Chromosome 8p is a rare genetic condition with approximately 350 patients and counting around the world. Bina Shah launched Project 8p in 2018 after receiving her daughter’s diagnosis of a chromosome 8p disorder, leading the community to help patients get to a standard of care, treatments, and meaningful outcomes.

A few 8p heroes. Photos courtesy of Project 8p.

Project 8p brings together families, clinicians, and researchers worldwide to reset the research model to a “saving lives’’ model. Along with Dup15qAlliance, Ring14USA, and two other patient-led advocacy groups, this past year Project 8p developed a commission — a one-of-a-kind collaboration that aims to solve for the commonalities across neurodevelopmental chromosome disorders in order to develop therapies. To launch the commission, Project 8p recruited 50 key opinion leaders to validate plans, onboarded scientific advisors, and engaged a strategic facilitator to exponentially increase capacity collectively. It’s exciting to imagine what the future holds for rare disease research when patient groups work together.

TANGO2 Research Foundation

The Morris family in 2019. Photo courtesy of Mike & Kasha Morris.

In 2017, husband-and-wife team Mike and Kasha Morris started TANGO2 Research after their son was diagnosed with the rare condition TANGO2 — a genetic disorder that is caused by mutations in the TANGO2 gene. When this rare disease was first discovered in 2016, just one year before the Morris family received a TANGO2 diagnosis, there was not much known about how this disorder affects patients at the most basic cellular level. Thus, their foundation aims to help fund, coordinate and guide the efforts of researchers, scientists and doctors to accelerate scientific understanding around TANGO2.

The TANGO2 community extends around the world — meet Harrison in Australia (left) and Mohammed in Saudi Arabia (right). Photos courtesy of TANGO2 Research Foundation.

In the past year, the TANGO2 Research Foundation has worked tirelessly to establish and fund five new patient-led TANGO2 research projects within six months of being a Rare As One grantee, which was much quicker than anticipated. The international group of researchers on the projects represent seven different institutions and four countries, including the United States, Germany, Canada, and France. The organization has already received primary results for some patients.

Additionally, TANGO2 Research Foundation has established new infrastructure and tools for their community, hired a new executive director, and implemented a three-year strategic plan — bringing the community one step closer to potential treatments and a cure for this rare disease.

Glut1 Deficiency Foundation

Glenna Steele and her daughter. Photo courtesy of Glenna Steele.

As the parent of a young adult with Glut1 Deficiency, Glenna Steele helped found the Glut1 Deficiency Foundation to increase awareness, improve education and support research funding for this rare disease. Glut1 Deficiency is a rare genetic condition where glucose is not transported properly into the br​ain, preventing it from growing, developing, and functioning properly.

In the past year, the organization has hired an educational intern and a science advisor, and are supporting a joint position at UT Southwestern for a clinical research manager who will liaise with the Glut1 research program leads — leveraging natural history studies, centers of excellence, surveys, community outreach, and more.

Photos from Glut1’s family conference in 2019. Images courtesy of Glut1 Deficiency Foundation.

The foundation has also built research capacity, increased collaboration between other rare disease organizations, and developed a process to survey the experiences and needs of Glut1 patients to ensure the foundation’s research priorities are truly patient-led. Previously, the organization was looking for a systematic way to capture patient experiences, illuminate needs, and identify patient research priorities, so they held focus groups in monthly Zoom meetings to help guide the aforementioned survey development.

By bolstering the power of patients in their efforts, the Glut1 Deficiency Foundation — and all other of our 30 Rare As One Network grantees — epitomize a core tenet of our program: that rare disease communities have a lot in common even if their diseases are different, and most importantly, can make more progress faster by working together.

Learn more about the work of our grantees fighting to find treatments, therapies, and cures for all rare diseases.

Supporting the science and technology that will make it possible to cure, prevent, or manage all diseases by the end of the century.

Get the Medium app

A button that says 'Download on the App Store', and if clicked it will lead you to the iOS App store
A button that says 'Get it on, Google Play', and if clicked it will lead you to the Google Play store