Archiving Rare Disease Organizations on the Web – Circulating Now from the NLM Historical Collections
By Caitlin Sullivan ~
A rare disease is one that affects fewer than 200,000 people in the United States. There are an estimated 7,000 identified rare diseases—a number that continues to grow as research reveals deeper insights into rare conditions—which affect an estimated 25-30 million (or 1 in 10) Americans. Rare diseases are broad in scope and may involve chronic illness, disability, emotional and social challenges, and/or premature death. They often have no treatment or minimally effective treatment, are frequently diagnosed incorrectly, and present as complex medical challenges. Almost half of individuals with a rare disease in the United States are children, with approximately 70% of rare diseases appearing to be genetic in origin.
In 2023, the NLM Web Collecting and Archiving Working Group began developing a web archive collection that documents the landscape of rare disease research, advocacy work, drug and treatment development, patient experiences, and support networks in the United States as communicated on the web. The Rare Diseases web archive approaches rare diseases as a public health issue of importance, rather than focusing on individual diseases. It documents both government and non-government responses and resources. This work is supported by the Collection Development Guidelines of the National Library of Medicine (NLM), which considers websites, blogs, social media and other web content to play an increasingly important role in documenting the scholarly biomedical record and illustrating a diversity of cultural perspectives in health and medicine.
The National Library of Medicine has a long history of collecting on rare diseases. NLM Collection Development Guidelines cite Medical Genetics—particularly for its impact on our understanding of rare and undiagnosed diseases—as a broad category that is collected comprehensively by the library. NLM supports rare disease research through Medline Plus, Unified Medical Language System, and NCBI MedGen, all of which funnel into the Genetic and Rare Diseases (GARD) Information Center which provides up-to-date information about genetic and rare conditions. NLM has also extended its commitment to providing accurate and trusted information to the public through its National Network of Libraries of Medicine (NNLM): In 2018, medical librarians within the NNLM led a nation-wide Wikipedia edit-a-thon for rare diseases, in which thousands of references and links on Wikipedia sites for rare diseases were updated, thereby supporting millions of Americans in their diagnosis odyssey. NLM’s MedlinePlus continues to be an important database for information on rare diseases and is continuously updated as research on individual diseases is published.
There is significant effort at the federal level to better study, understand, treat, and support rare disease diagnoses. The National Institutes of Health (NIH) is deeply engaged in efforts to identify, research, and treat rare diseases with the goal of improving outcomes and quality of life for rare disease patients and families. The Genetic and Rare Diseases Information Center (GARD) is an NIH program that provides free access to reliable, easy-to-understand information in English and Spanish about genetic and rare diseases. The resource, which is managed by the National Center for Advancing Translational Sciences (NCATS), gathers information from multiple research databases to create a simplified summary of known causes, diagnostic resources, and information on communities of support for individual diseases.
The Rare Diseases Registry Program (RaDaR), also run by NCATS, is an online resource that provides patient groups with guidance on how to develop registries for rare diseases. Registries can serve as powerful tools for collecting information about patients diagnosed with the same rare disease, communicating new breakthroughs to interested patients, recruiting participants to studies, and supporting families and caregivers through the rare disease journey.
The National Human Genome Research Institute (NHGRI) at NIH focuses its work on robust study and treatment of genetically-caused (or affected) conditions through collaboration with scientific and medical communities. Areas of concentration include bioinformatics and computational biology, biology of disease, structure and biology of genomes, science and effectiveness of medicine, and ethical implications of research. The research done at NHGRI continues to improve our understanding of rare genetic diseases and conditions.
In addition to federal support for rare disease research and treatment, there are many high-caliber nonprofit and advocacy organizations doing important work at the local, state, and national level. The National Organization for Rare Disorders (NORD) was established in 1983 and was the first national nonprofit to represent all individuals and families affected by rare disease, and continues to be one of the largest advocacy organizations in the space. NORD supports a wide range of initiatives at both the patient and organization level: disease-specific groups can find information on everything from starting a rare disease organization to creating rare disease registries to advancing research, while individuals can find support through its patient assistance programs, databases of rare disease organizations, information on clinical trials, podcasts, and resource library.
Every rare disease journey is uniquely challenging and, at times, might feel isolating. Our Odyssey is an organization that creates community for young adults who are impacted by a rare or chronic condition. Programs include social meetups, community conversations, storytelling, and arts programs to decrease isolation and build communities of support. Events take place both in-person as well as virtually.
Rare diseases can be incredibly difficult to diagnose. This might be due to a scarcity of information altogether or to scattered medical studies that are challenging to locate and derive treatment options from in meaningful ways. The burden of an undiagnosed disease can weigh heavily on individuals and families in many ways—often emotionally, financially, and physically. The Undiagnosed Diseases Network is a Harvard-based, NIH-funded research study that brings together clinical and research experts across the country to help patients better understand (and possibly diagnose) their condition. Clinical sites exist across 14 cities in the United States where neurologists, immunologists, nephrologists, endocrinologists, and geneticists work together to provide answers to patients. The site provides information in both English and Spanish.
The development of therapeutic interventions for rare diseases has historically faced many barriers. Due to the rarity of conditions, there may be little natural economic incentive for pharmaceutical companies to divert resources toward therapies that might only treat a handful of individuals. As a result, these therapies often became “orphaned” due to lack of funding or corporate interest. The Orphan Drug Act of 1983—led in large part by NORD—incentivized pharmaceutical companies to develop drugs aimed specifically at treating rare diseases. The act offers tax credits, a waiver of the Prescription Drug User Fee, and extended market exclusivity options to participating drug developers. Today, there are several pharmaceutical companies that are working on treatments for rare conditions, as well as organizations that seek to connect potential patients with research efforts. The web archive contains a selection of both rare-disease-focused drug developers and advocacy groups, such as the Alliance for Regenerative Medicine.
NLM will continue to support and grow the Rare Diseases web archive over time as these websites will continue to evolve and change. By archiving these resources year after year, the web collection will document changes in our understanding of rare diseases thereby giving researchers, scholars, students, and other users a longitudinal view of these important issues.
We welcome public recommendations for additional content to include or aspects to consider. Is there an organization you would like to recommend for inclusion in this web archive? If so, please submit recommendations to nlmwebcollecting@mail.nlm.nih.gov. For more information about NLM’s web collecting efforts, please visit https://www.nlm.nih.gov/webcollecting/.
Caitlin Sullivan is a web archivist in the User Services and Collection Division at the National Library of Medicine and a member of NLM’s Web Collecting and Archiving Working Group.
The NLM Web Collecting and Archiving Working Group includes Delia Golden, Christie Moffatt, Susan Speaker, Caitlin Sullivan, and Kristina Womack. This collection was developed with valuable contributions from contract archivists Shirleon Sharron and Erica Williams, as well as NLM Associate Fellow Kristi Torp.
