On February 28, Rare Disease Day, more than 60 countries and hundreds of organizations come together to raise awareness of the plight of those afflicted with rare diseases. Although rare diseases affect more than 100 million people worldwide, there is limited public awareness and insufficient research funding to develop tools to prevent and treat these diseases.
This year, the theme of the day is “Rare Disorders Without Borders.” Advances in rare disease research are far more likely to succeed if teams of researchers from different countries pool resources, share findings and work together to find new solutions.
There are clear parallels between these rare diseases and neglected tropical diseases, such as Chagas disease and dengue fever, that are afflicting people throughout tropical regions and increasingly closer to home. These diseases are not widely known, which often leads to misdiagnoses and delayed treatment. This lack of awareness results in very little funding for research in widespread prevention and treatment. It is abundantly clear that more research is needed to better deal with these rare and neglected diseases.
On the Rare Disease Day website, you can find the Handprints Across America gallery of patients and their families. The disease names may be unfamiliar to you—scleroderma, Hermansky-Pudlak syndrome, Prader-Willi syndrome, Pompe disease, Leiber’s congenital amaurosis, and familial partial lipodystrophy Dunnigan syndrome just to name a few. But the stories paint a clear picture of the impact of rare diseases on families across the nation and around the world. More patient photos and stories can be found on Rare Disease Day’s Flickr photostream.
Research!America members like the National Organization of Rare Diseases (NORD) and the American Autoimmune Related Disease Association (AARDA), are celebrating this year’s Rare Disease Day in addition to marking the 30th anniversary of the Orphan Drug Act. The Orphan Drug Act provides financial incentives to encourage companies to develop treatments for small patient populations. Passage of the Orphan Drug Act by was successful in large part due to patient advocates and other organizations working together. However, research and advocacy are still needed for these rare and neglected diseases! Check out the Rare Disease Day page to see how you can support the rare disease community.
Other research and advocacy groups are also spreading the word about Rare Disease Day. Groups and individuals on Twitter are using the hashtag #rarediseaseday. Also see the newest blog post from National Institutes of Health Director Francis Collins, MD, PhD. The NIH is hosting the sixth annual Rare Disease Day on Feb. 28 and March 1. The two-day event will highlight the work of the NIH-funded researchers, agency partnerships and collaboration among researchers across the globe.