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Resources for Rare Disease Day

On February 28, 2014, the National Institutes of Health observed the seventh annual Rare Disease Day, with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research (ORDR); the NIH Clinical Center; other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; other Federal Government agencies; the National Organization for Rare Disorders (NORD); and the Genetic Alliance. Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients’ lives.

Rare Disease Day logoThere are nearly 7,000 rare diseases identified in the United States. A disease is considered rare if it affects fewer than 200,000 Americans. Collectively, rare diseases affect approximately 30 million Americans. About 80% of rare diseases are genetic in origin and it is estimated that about half of all rare diseases affect children. Rare diseases can be chronic, progressive, debilitating, disabling, severe, and life threatening. The conference provided insight into the latest research and sequencing programs, such as the National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI)’s Newborn Sequencing Program for genome and exome sequencing to expand and improve newborn health care, and the National Cancer Institute (NCI)’s development of therapies for neurofibromatosis type 1 related tumors.

For medical librarians and patients alike, obtaining quality information on rare diseases can be especially challenging. Luckily, the Genetic and Rare Diseases Information Center (GARD), a joint project of the NIH Office of Rare Diseases Research (ORDR) and the NIH National Human Genome Research Institute (NHGRI), provides a centralized location for information about genetic and rare diseases, in English and Spanish. Each disease has been reviewed by GARD Information Specialists and often includes links to disease-specific resources, information on genetic testing and services, relevant scientific conferences, support organizations, research studies and clinical trials, and FDA-approved medications. In addition, GARD Information Specialists are available online, by phone, or in-person to assist with specific questions.

The National Library of Medicine (NLM) has also worked to improve access to information about rare diseases. MeSH has integrated the disease vocabulary of NIH Office of Rare Diseases and Research (ORDR), Online Mendelian Inheritance in Man (OMIM), and Genetic Home Reference (GHR), allowing easier access to published literature about rare and genetic diseases in databases like PubMed. ClinicalTrials.gov, due to requirements for study registration and results submission, has also become a large repository for technical and/or unpublished research data. One of NLM’s newer resources, Genetics Testing Registry, provides information on over 13,000 genetic tests. From the voluntary submission of genetic test information by providers, the test records include purpose, methodology, validity, evidence of the test’s usefulness, and laboratory contacts and credentials.

Representatives from NORD (National Organization for Rare Disorders) and the Genetic Alliance also reminded attendees about the importance of communities and support groups for patients of rare disease and their families. RareConnect, a collaboration of EURORDIS (European Rare Disease Organisation) and NORD, is an online safe space where individuals and families affected by rare diseases can connect with each other, share experiences, and find helpful information and resources. Rare Disease Day gives us the opportunity to raise awareness of rare diseases and to inspire the continued growth of the awareness of rare diseases. The 6.5-hour archived video of the event is available on the NIH VideoCast website.

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