Strengthening Rare Disease Communities

Celebrating Learnings from the Rare As One Project and Launching a Second Funding Opportunity

Each February, the rare disease community comes together and celebrates Rare Disease Month to raise awareness about rare diseases, their impact on patients’ lives, and the urgent need to find treatments and cures. Rare Disease Month culminates in Rare Disease Day on the last day of February — the rarest day of the year.

This year, we’re reflecting on the progress our grantees in the Rare As One Network have made to accelerate research — despite facing significant challenges brought on by the COVID-19 pandemic — and our learnings along the way. We’re also excited to announce a new funding opportunity for a second cohort of the Rare As One Network.

Supporting the Rare Disease Community Beyond Funding

In 2019, CZI launched the Rare As One Project to strengthen rare disease communities, connect them with one another, and build their capacity to accelerate research. As part of that effort, we funded 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 agendas. By coordinating and establishing priorities in collaboration with researchers, patient communities can significantly accelerate progress in their disease areas.

The Rare As One (RAO) Network was designed to support these groups beyond just funding. Over the last year, we launched a series of programs designed to help strengthen their organizational and scientific capacities. We held a dozen trainings on topics such as finance, operations, hiring, engaging with researchers, and planning a scientific conference; provided groups with access to conference planning and digital strategy support; stood up a science advising program that matched select groups with advisors based on their rare disease area and specific needs; developed a mentorship program with FasterCures; and hosted a number of community building opportunities that collectively engaged participants across the cohort. We assessed the value of these offerings through surveys following events and training sessions, continuous engagement with the community, and an anonymized survey conducted six months into the program.

Learnings from Year One

In the past year, we have learned a tremendous amount from grantees as we have worked in partnership with them to understand how we can optimize the power of community and improve the Rare As One Project. We learned the value of:

• An incubator approach 🌎: Rare disease leaders generally don’t come to this work by choice or by training. Our grantees have underscored the value of providing baseline organizational and scientific capacity building support in addition to funding, and have provided important feedback on our program that helps us understand which offerings are “must-haves” and how best to provide them.
• The network effect 🤝: Most importantly, we’ve heard from our grantees that the most valuable part of the program is the opportunity to share and learn from one another. Grounded in a “community learning” approach, the Rare As One Network has created a space for rare disease organizations to work together, explore challenges, and develop solutions beyond the immediate goals of the program. RAO grantees have identified many synergies across disease areas, and are independently developing ways to tackle these challenges through working groups and collaborations. Similarly, grantees are exploring multiple challenges and solutions beyond the scope of the grant — for example, by forming collective work streams on topics such as registries and drug repurposing.
• Research community engagement 🔬: We have also observed the eagerness of the research community to engage with patient-led organizations that are deeply committed and prepared to support research. This has been made clear through both the success of the groups in broadening their research networks and hosting meetings, as well as through collaborations with other CZI Science programs.

The Glut1 Deficiency Foundation family conference in 2019. Photo courtesy of the Glut1 Deficiency Foundation.

The Struggle for Diagnosis

Our program in patient-driven rare disease research is premised on patients being diagnosed. Our work with grantees has also confirmed for us that diagnosis is a pressing challenge faced by rare disease communities as they seek to build strong and inclusive communities. At the most basic level, without a diagnosis, patients cannot engage in the research process in the many ways that they do — by identifying and convening patient and research communities, developing research enabling infrastructure, and funding research, among others. Additionally, without accurately diagnosed patients, scientists cannot fundamentally understand a rare disease because the natural history of the disease cannot be fully researched, samples cannot be collected, and studies and clinical trials cannot be conducted.

Unfortunately, countless rare disease patients are undiagnosed. The”‘diagnostic odyssey” of a patient being diagnosed (and often misdiagnosed in the process) takes on average five years, and in many cases, much longer. During this undiagnosed period, health frequently deteriorates, and often results in death. The tragic impact of this diagnostic delay is startling considering that 30 percent of children (who make up 75 percent of the 25 million undiagnosed Americans with a rare disease) will die before their 5th birthday. Time is of the essence for rare disease patients, and accurate and timely diagnosis is the first and most critical step to improving their lives and research into their diseases.

Without an equitable diagnostic foundation, neither advocacy nor research can be wholly inclusive or reflective of the community impacted.

Devan, one of our Rare As One patient heroes. Photo courtesy of Project 8p.

Focusing on Diversity

Our work with the RAO Network has also confirmed that addressing diagnosis is key to addressing diversity, equity, and inclusion in rare disease — in terms of care, engagement in advocacy, and research. Intentional outreach to and engagement of the full spectrum of those affected (or potentially affected) by a disease is necessary in order to fully or accurately describe a disease, its cause, presentation, and impact. Intentional inclusivity in addressing diagnostic challenges is not only the right thing to do, but is critical to effective and efficient research in rare disease.

We know there are multiple possible approaches to tackling these challenges — strategies could include conducting research to support the discovery of biomarkers; exploring technological approaches like advances in imaging; engaging a diverse patient community and studying the natural history of the disease; investigating infrastructure-building approaches such as the development of expert centers with key research and diagnostic capabilities to capture disease-wide data; and so much more.

We believe that by bringing the patient and research community together to prioritize outreach and inclusivity, we can have a profound impact on improving diagnosis and accelerating research in rare disease. That’s why we’re making diagnosis and diversity key focuses of our next funding round.

The NEC Society Leadership Team in 2019. Photo courtesy of the NEC Society.

Announcing the Rare As One Network Cycle 2

Leveraging these learnings over the last year, we’ve built the Rare As One program to be a coalition and network of patient-driven organizations fighting for treatments and cures. Even faced with the challenges of COVID-19, our grantees and rare disease advocates around the world have made tremendous progress to advance research and convene their communities. We’re excited to announce that we’re expanding the program — starting in late March, we will be soliciting proposals for Cycle 2 of the Rare As One grantee cohort.

This second cycle of the RAO Network will encourage applications from groups that are specifically looking to address diagnosis-related research challenges within their disease area, as they develop and design their research networks and agendas. Additionally, we will strongly encourage applications from women, people of color, and organizational leaders representing disease areas that disproportionately impact low-income or communities of color. More details to come in March 2021.

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