How rare disease researchers, patients, and advocates use Meta to support their work
At a recent workshop about Meta, Executive Director of Cure HHT Marianne Clancy noticed a new scientific paper about the rare disease she’s focused on curing — in the form of a case report from Sudan. Hereditary Hemorrhagic Telangiectasia, or HHT, is a genetic disorder that causes malformation of blood vessels and leads to spontaneous bleeding in the nose and other parts of the body. More than 1.4 million people in the world are estimated to have HHT, yet approximately 90% don’t yet have a diagnosis, which can take as long as 27 years. HHT can affect people of all sexes, racial and ethnic groups, and ages.
Marianne hadn’t seen this paper before, and Sudan is a region of the world where Cure HHT did not have a foothold nor any physicians or patients identified. Her excitement was palpable. Spurred by the discovery, Marianne reached out to the paper’s author, physician Omer Ali Mohamed Ahmed Elawad, and found that his group is treating four families.
Omer has now joined the Cure HHT community of medical professionals, patient advocates, and researchers worldwide. This connection is providing the Sudanese physicians with the help they need to better serve their patients and expanding the global pool of patient data for the HHT movement, infusing new information that could accelerate progress.
Cure HHT is one of several patient-led rare disease organizations using Meta to find the latest research and build their network of researchers, clinicians, and patients, with support from the Chan Zuckerberg Initiative (CZI) Rare As One Network.
“The Rare As One grant has been a true game changer for our rare disease organization. The support has allowed us access to tools such as Meta to reach a broader array of physicians in providing greater access to patient resources, engagement, and treatments to save lives!” — Marianne Clancy, Executive Director of Cure HHT
Rare Disease Isn’t Rare
At least 400 million people globally are living with a rare disease, yet fewer than 5 percent of rare diseases have approved treatments. What’s more, awareness and understanding of rare diseases are low, leaving many patients and their caregivers struggling to find reliable information and adequate support. In response, rare disease patients and advocates are building powerful communities and research networks to drive progress in the understanding of rare diseases.
The CZI Rare As One Project aims to lift up the work that patient communities are doing to accelerate research in the fight against rare diseases. As part of the CZI Rare As One Network, 30 patient-led organizations are partnering with clinicians and researchers to create collaborative research networks in their disease area, bringing together their research community, and aligning across shared research priorities. CZI is expanding this network, and patient-led organizations can now apply for a new funding opportunity, with a key focus on improving diagnosis and diversity, equity, and inclusion within their rare disease area. CZI supports the Rare As One Network groups with capacity-building, funding, training, and tools.
One of those tools is Meta, a biomedical research discovery platform developed by CZI. Meta’s team has partnered with Rare As One (RAO) to help patient-led organizations better explore and understand the research landscape of their disease area, such as:
- Who is working on this disease?
- What have researchers discovered?
- Where are the gaps in the research?
- How can patients and researchers connect and work together to deliver impact?
With product support, workshops, and technology projects, rare disease patients and their advocates are using Meta to discover and share new findings, connect with researchers, and incorporate the latest science into their advocacy plans.
Creating a Catalog of Rare Diseases
As a first step toward supporting rare disease organizations, Meta’s team of curators created a catalog of select rare diseases in the Discover library. These feeds can be explored and followed by anyone with an interest in rare disease research. The catalog includes 30 feeds dedicated to rare diseases that are the focus of RAO grantees, including Congenital Hyperinsulinism, DDX3X syndrome, and Chromosome 8P disorders, as well as additional feeds covering other rare diseases that map to CZI’s research areas, such as neurodegeneration. This represents just a small fraction of the estimated 7,000 rare diseases, but more feeds will be added to Meta’s catalog in the future.
Feeds provide a way to gather and stay up to date on the latest research into a particular disease, including its biology and clinical management. They automatically update as new research becomes available, ensuring patients, caregivers, and researchers never miss an important development. Speed is important for any scientist, especially those in rare disease research—often a race against time where incremental discoveries can have a major impact on people’s health and quality of life.
Each rare disease feed in the Discover library contains a brief definition of the disease, the top 20 most recent papers about that topic, and a list of related feeds that may surface other papers of interest. To delve more deeply into a feed, users can follow it in their Meta account and also personalize it to better suit their interests. (The original feed in the Discover library will be unaffected by any changes).
Some feeds in the rare disease category will be labeled as “Influential,” “Fast Growing,” or “Going Viral.” These labels indicate feeds that contain papers being discussed on Twitter and other social media platforms, as well as those with an increased frequency of new papers. Papers also carry counts of discussions on social media, in the news, and on other channels. These feed and paper indicators can help people see where the buzz is coming from in their research area, possibly guiding them to new treatments or researchers.
Working Directly with Patient Advocates
Meta’s team has been partnering with CZI’s RAO program to offer workshops and one-on-one training sessions to grantees. These workshops provided hands-on training with Meta, best practices for navigating the platform, tips for creating feeds on rare diseases, and Q&A sessions.
Meta’s team works directly with RAO grantees to help them get the most out of their feeds, whether adjusting existing feeds from the Discover library to better suit their needs or helping them create feeds from scratch. These one-on-one sessions also delve into each grantee’s specific needs, whether that is help with creating feeds or getting the word out to their network about Meta as a resource. Some grantees may also use the scientific information surfaced in Meta to guide strategic planning, such as identifying new research to fund. The Meta team also takes RAO feedback into account to understand how Meta can better meet their needs.
Next Steps: Creating Connections
In addition to the catalog of rare disease feeds, RAO is testing and developing a platform to provide rare disease organizations with a comprehensive view of the research landscape in their disease area. Using Meta’s knowledge graph, the platform will provide an overview of a disease area, including papers, researchers and their locations, clinical trials, and a classification of existing literature by type of research, such as clinical characteristics, the molecular mechanism of disease, and clinical trials.
Bringing a wealth of information into a single platform could be transformative for rare disease organizations, providing a comprehensive view of research into a specific rare disease and helping them make connections between research advances and clinicians and scientists working in their disease area.
The partnership between Meta and RAO continues. Bringing a wealth of information into a single platform could be transformative for rare disease organizations, providing a comprehensive view of research into a specific rare disease and helping them make connections between research advances and clinicians and scientists working in their disease area. We’re also exploring methods to provide greater access to full-text literature on rare diseases, an estimated 60% of which is behind a paywall.
In addition, we are working with several patient advocacy groups to develop a content-sharing tool that will display Meta’s rare disease feeds on their websites, meeting researchers and families where they are and saving them search time. We are currently having discussions with partner organizations to guide the widget’s development, and are hoping to design and release it later this year.