Crowdfunding is a way of raising money to fund a specific project or fulfil a specific goal in a relatively short amount of time. It involves asking a large number of people for a small contribution to the project. The method is not just about getting money- it is about developing support from a crowd of people who believe in your cause.
We believe this method of fundraising is especially important, as rare diseases are often unknown, and little understood by the wider public. More crucial than raising funds, is raising awareness. Crowdfunding offers you an opportunity to do both at once through the online crowdfunding platform you choose, social media, and the personal networks brought to you by your crowd.
What is Black Bone Disease?
Black Bone Disease was the first genetic disease ever identified over 100 years ago, and yet it still has no licenced treatment. It is incredibly rare, with fewer than 100 patients in the UK, and around 1000 cases diagnosed worldwide.
Thanks to the genetic defect, an enzyme usually present in the body cannot be produced. This causes the build-up of a harmful acid in the body, which attacks bones and other tissue, turning them black and brittle. This results in severe joint damage and a risk of heart disease.
The AKU Society is a charity working to support patients with the disease. As a patient group we work closely with patients to provide them with support, and information. Our goal is to improve the level of care experienced by patients, and to drive research to find an effective treatment.
In 2013 we launched our first clinical trial, raising over $100,000 to support the launch of an international clinical trial. This trial is now underway, and is testing a promising drug called nitisinone. If given at the correct age, this drug has the potential to prevent all of the debilitating effects of Black Bone Disease.
However, we still have something we need to find out. What is the best age to give this drug? Given too early in life and the drug could potentially cause side effects harmful in growing children. Given too late and the debilitating damage caused by Black Bone Disease will already have set in. To find the optimum age to treat patients, we need to undertake some new research.
Our researchers will study the progression of Black Bone Disease by comparing patients from a range of different age groups. They will test how patients walk using gait analysis, and will also collect blood, urine and cartilage samples.
To support the research, we are launching a crowdfunding campaign to raise money and awareness. read more >
The final 2015 State House Event took place yesterday. Now that all of the numbers are in, take a look at (and share!) this year’s highlight reel & recap:Together, we planned and hosted 32 State House Events in capitol buildings across the U.S., up from last year’s 12 State House Events
With all of our efforts, Rare Disease Day continues to grow! Thank you to everyone who planned and attended events, joined the social media campaign, changed their profile photos, shared infographics, and got involved. As the official U.S. sponsor of Rare Disease Day, NORD thanks everyone who came together to support this truly community and group effort. Together, we are strong!
Keep the Momentum Going read more >
FDA Advances Medical Product Innovation
By: Margaret A. Hamburg, M.D.
As posted on March 17, 2015 by FDA Voice
On March 10, I had the pleasure of appearing with my colleague Dr. Francis Collins before the Senate Committee on Health, Education, Labor and Pensions to testify at a hearing on the subject of “Continuing America’s Leadership in Medical Innovation for Patients.” I thought the broader public health community would be interested in my oral testimony, and so I am sharing it here:
“Thank you, Mr. Chairman and Members of the Committee. I’m very pleased to be here today to discuss our shared goal of speeding innovative treatments to patients. FDA looks forward to working with you on this important effort.
As you have noted, this will be my last appearance before the Committee, as I am stepping down, but I want to thank you for your support over the years, and our constructive engagement with this committee to advance FDA’s public health mission.
I came to the Agency at a time of considerable uncertainty and change in the biomedical product industry; a time when dramatic advances in science and technology, some that my colleague Dr. Collins just outlined, demanded new models and approaches.
In turn, we took a very serious look at our role in advancing biomedical product innovation to ensure that we would be a gateway, not a barrier, to the delivery of better, safer and more effective treatments and cures. read more >
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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