Tag Archives: National Organization of Rare Diseases
The last day in February marks the annual International Rare Disease Day, first celebrated in 2008 by European coordinators the European Organization for Rare Diseases (EURORDIS). For the past five years, the United States has participated in this effort thanks to the hard work of the National Organization for Rare Disorders (NORD) and other committed alliances and patient advocacy groups.
Rare diseases are classified in the U.S. as illnesses affecting fewer than 200,000 individuals – about 0.005% of Americans. These patients and their families often struggle to be heard and there are major gaps in research on treatments and cures due to the small percentage of the population impacted by these diseases. However, advocacy groups across the nation, often coordinated by patients and their families, are leading the way to increase the voice of those with rare diseases and to ensure research on these illnesses receives well-deserved funding. Three examples include:
- The Progeria Research Foundation has been fighting to increase awareness and support of Progeria since 1999. Hutchinson-Gilford Progeria Syndrome (HGPS, Progeria) is a disorder that causes accelerated aging that eventually leads to pre-mature death due to heart disease. Drs. Leslie Gordon and Scott Berns, along with their son Sam who passed away in January from the syndrome, have been vocal advocates on Capitol Hill and were featured in the recent HBO special “Life According to Sam.” Funding raised by PRF contributed to the 2012 discovery of the first-ever treatment for children with the lethal disease. The Progeria Research Foundation will be honored by Research!America with the Paul G. Rogers Distinguished Organization Advocacy Award on March 12, 2014. Continue reading →
Guest blog post by the National Organization for Rare Disorders.
Only a few hundred of the nearly 7,000 rare diseases have approved therapies. Many are not being studied at all by medical researchers.
Often, patients – or parents of patients – feel that nothing will be done unless they raise the money, recruit the researchers and fuel the search for their own lifesaving treatment. They find themselves in a race against time, since rare diseases tend to be serious and many are life-threatening.
To promote awareness of these and other rare disease challenges, the National Organization for Rare Disorders (NORD) hosts a national website where all patient advocates can find ways to show their support for Rare Disease Day. Continue reading →
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.