Elevating Patient-Driven Research

February is Rare Disease Month, where the world shines a light on the 400 million people globally affected by over 7,000 rare diseases. Despite these overwhelming numbers, most people have never heard of these diseases. The vast majority of rare disease patients — isolated by the rarity of their diseases and scattered around every corner of the world — have often never met another patient with the same disease, nor have their doctors seen more than one patient with one of these diseases. As a result, little data or understanding of the cause, variability, or potential treatments for these diseases exists. Only 5 percent have an approved treatment, and almost all are significantly under-funded and under-researched.

Pediatric Hereditary Hemorrhagic Telangiectasia (HHT) physician Dr. Josh Murphy and patient Lindsey Conger discuss genetic testing using a saliva kit and examine how the process works. Photo courtesy of CureHHT.

Patients are uniquely poised to change the current landscape and move the needle in rare disease research. Around the world, patients are organizing online communities, forming patient organizations, identifying and convening researchers, actively driving forward research in their disease areas, and so much more. Patients and patient advocates are experts in their disease area. By being personally affected, they know more than anyone the lived implications of their disease, and as conveners of patient communities, they bring a breadth of knowledge that no individual researcher or clinician could be expected to have.

We’ve learned that science is better when patients are partners in research. That’s why we’re funding teams of patient-led rare disease organizations and researchers to address critical gaps in rare disease research through two new requests for applications for patient-centered collaborative research.

Patients want answers and treatments that work, and time is of the essence for many rare disease patients and their families.

Expanding the Rare As One Network

In 2019, the Chan Zuckerberg Initiative launched the Rare As One Network, funding 30 patient-driven rare disease organizations to develop research networks, convene their communities, and identify shared researcher-patient prioritized goals in their disease areas. In just two years, each of the Rare As One Network grantees has made significant progress in advancing research — effectively organizing and diversifying their patient communities, catalyzing research networks, raising research funds, shaping research priorities, developing research-enabling infrastructure and industry partnerships, and launching clinical trials. They have demonstrated that with a motivated leader, access to well-designed training in a few key areas, and the opportunity to collaborate and learn alongside others, patient-led rare disease organizations can have a critical, and outsized, impact on research. After seeing the success of this Network and how patient organizations benefitted from the collaboration and network effect, CZI provided additional support to extend participation in the Network for another year.

We knew there was much more work to be done. In planning the expansion of the Rare As One Network, we considered the highly complex challenge of rare disease diagnosis. The search for a diagnosis — the “diagnostic odyssey” — is often long, lasting five years on average. The pace and rate of diagnosis is significantly limited by insufficient research to characterize these diseases, the small numbers of rare disease patients seen at any given medical center, and siloing of data and information. Too often, diagnosis occurs only as a result of tremendous persistence by patients or their families. Patients from underrepresented or marginalized backgrounds and from developing countries are even less likely to obtain a diagnosis.

Last year, CZI launched a second funding cycle for the Rare As One Network, with an intentional focus on addressing challenges with diagnosis in rare disease, recognizing that these challenges impact not only the lives of those who remain undiagnosed, but also the ability to form strong and inclusive patient communities. In December, we announced our support for 20 organizations to specifically address diagnosis and diversity-related challenges in their disease areas, and also provided general operating support to 20 additional organizations on this path.

Leveraging Learnings for Project Grants

We know that optimizing and elevating patient-driven research will require significant, much-needed improvements in infrastructure, diagnosis, and equity in the rare disease field. We are working to support this change through grantmaking, including support for:

  • Americas Health Foundation to support the Enfermedades Raras en Caribe y América Latina project to advance a more equitable rare disease advocacy and research ecosystem in Latin America and the Caribbean.
  • Black Women’s Health Imperative to expand education and awareness, advocacy, policy, and research for patients of color through the work of the Rare Disease Diversity Coalition program.
  • N-of-1 Collaborative to support a new consortia of clinical and research experts to advance the development of oligonucleotide drugs as individualized medicine in rare neurological diseases.
  • OpenTreatments Foundation to support the creation of a tool that aggregates prevalence data across rare diseases, elevates awareness around disease areas, and connects patients with existing communities and resources.
  • Rare Cancer Research Foundation (Pattern.org) to catalyze rare cancer research and development through scaling sample collection, expanding the research partner ecosystem, and ensuring outputs are made accessible to the research community.
  • Rare Diseases Institute at Children’s National Hospital to launch the Rare Disease Community Education Initiative to empower local primary care providers and provide them with the necessary tools to provide culturally-competent diagnosis and care.
  • Rare Diseases International to support the development of the Collaborative Global network for Rare Diseases, bringing together multi-disciplinary teams of researchers and clinicians and connecting centers of expertise at a local, regional, national, and global level.
  • Wilhelm Foundation to conduct its work on behalf of the untold numbers of undiagnosed patients around the world.

The Rare As One Project is grateful for the many partners in the rare disease space who work tirelessly to address these challenges and others, and to elevate the voices of patients. We continue to provide general operating support grants to the National Organization of Rare Disorders, EveryLife Foundation, Global Genes and Genetic Alliance, and a project grant to the Milken Institute’s FasterCures program to provide support for The Research Acceleration and Innovation Network (TRAIN).

Two New Patient-Partnered Requests for Applications (RFAs)

The Rare As One Network has shown us how successfully patient organizations are engaging in research collaborations, infusing their priorities into the research agenda, and how imperative the patient voice is to ensure that research is reflective of their needs and experiences. Thus, we are launching two patient-partnered collaborative requests for applications that bring together researchers, clinicians, and patient-led organizations to address pressing research challenges and opportunities in rare disease.

These funding opportunities invite applications from collaborative teams from across the globe who will bring together patient-led rare disease organizations and research teams for projects aimed at advancing our understanding of rare diseases:

The awards cover $2 million total costs for four years for each project, distributed among research institutions and patient organization collaborators. Applicants are welcome to apply to both of these opportunities; however, the application and scope of work must be distinct. Learn more and apply.

We designed these RFAs to underscore how patient-led organizations are critical to defining research questions and priorities in their disease areas. Together, we hope these funding opportunities will advance and support patient-centered, foundational science-focused projects that seek to characterize the cellular mechanisms underlying rare diseases. We aim to lift up and scale this model of patient-partnered collaborative research; to center patient voices throughout the research process, from study design to execution and dissemination of results; and to advance diagnosis and global understanding of rare disease. We believe that science is better when those directly impacted by challenges are part of the solution.

We are proud to stand with and shine a light on all those, diagnosed and undiagnosed, living with rare disease this Rare Disease Month and beyond.

Learn more about CZI’s work in patient-driven research.

Heidi Bjornson-Pennell, Program Manager, Rare As One

Knowing she wanted to dedicate her life to helping those most in need, Heidi began her career practicing human rights law as a barrister in England and then went on to spend over a decade working as a state public defender in California. Life changed when two of Heidi’s three children were diagnosed with a rare and progressive pulmonary disorder, primary ciliary dyskinesia. Heidi immediately turned to help find a cure for their disease, including serving for many years on the board of the PCD Foundation. Recognizing the tremendous infrastructure challenges in rare disease, the common challenges and synergies between so many of them, and the power that many voices could bring to this work, Heidi joined CZI to lead the work on Rare As One, elevate the voice of patients and accelerate research in rare disease.

Tania Simoncelli, Vice President, Science in Society

Tania Simoncelli joined the Chan Zuckerberg Initiative in 2017 with a vision to build a program committed to centralizing essential leaders in the biomedical research ecosystem: patients. In service of this goal, she launched the Rare As One Project, a first-of-its-kind program that supports patient communities in their quest to accelerate research through grantmaking, capacity building support, and the development of new tools and partnerships. Her commitment to this work is grounded in 20 years of experience designing policy and advocacy strategies to address complex issues at the intersection of science, technology, law, and ethics.

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

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