Rare diseases aren’t really rare. While about 7,000 diseases are considered rare because each one affects fewer than 200,000 individuals, collectively, about one in 10 people in the U.S. have a rare disease. About 80 percent of these disorders are genetic in origin, and more than 50 percent of those afflicted are children. Most rare diseases are serious or life-threatening and have a high rate of unmet medical needs. Historically, there has not been much information made broadly available, and even today, patients and their caregivers—even healthcare providers—often face many unanswered questions.
In recent years, thanks in part to advances in medical technology and the burgeoning field of genomics—which has led to a greater understanding of the body’s genes—research has helped unveil the underlying causes of some rare diseases. Simultaneously, rare disease patient support organizations increasingly have helped fill the public’s knowledge gap about these conditions.
The Rare Diseases Act of 2002 also has played a crucial role: Through this legislation, Congress authorized the National Institutes of Health’s (NIH) Genetic and Rare Diseases Information Center (GARD). Today, GARD is a collaborative effort administered by the NIH’s National Center for Advancing Translational Sciences (NCATS) and National Human Genome Research Institute. The GARD online database provides up-to-date, easy-to-understand information about rare and genetic disease symptoms, treatment options, research, patient support organizations, and other resources.
“As rare diseases research, diagnoses and treatment options continue to increase, so do the needs for GARD services,” said Anne Pariser, M.D., director of the NCATS Office of Rare Diseases Research. “Every month, the GARD website receives more than one million visits and about 800 additional requests for information either by email or through speaking with an information specialist.”
The GARD website includes a section on rare disease categories such as hereditary cancers, heart diseases and eye diseases. These categories include descriptions and symptoms, treatments, research, and links to resources such as patient support organizations. GARD information specialists also add and update information on an ongoing basis.
There also is a section to guide users on an array of disease-based services information. This can include help finding ongoing research on a specific condition or disease, or assistance in locating specialists and experts for rare conditions. A sub-section called “Patients, Families and Friends” offers help with financial questions (“Tips for Finding Financial Aid” and “Help with Travel Costs”), undiagnosed conditions (“Tips for the Undiagnosed”) and clinical research (“How to Get Involved in Research”).
GARD also is useful for scientists who may be seeking research collaborations with patient support organizations and help with recruitment for clinical studies. In addition, there is information about NIH programs that support rare diseases research, including NCATS programs such as the Rare Diseases Clinical Research Network and Therapeutics for Rare and Neglected Diseases.
To complement the online content, GARD information specialists are available by telephone to discuss questions and answers in both English and Spanish. They also can provide, upon request, translations in other languages including French, Portuguese, Russian and German. In addition, there is a limited Spanish-language version of the site.
“There is great hope in rare diseases research as we learn more everyday about the biology of these diseases and conditions and continue to design new therapies and drugs to help patients,” Pariser said. “As patients play more active roles in their treatments, GARD’s own role is more important than ever before.”
For more information, visit https://ncats.nih.gov/gard.