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 >
This guest blog was submitted by the Society for for Women’s Health Research and is being published in conjunction with National Women’s Health Week, which is May 11-17.
Autoimmune diseases (ADs) are conditions characterized by inflammatory responses from misdirected attacks by the immune system on the body’s organ systems. Currently, there are more than 80 ADs that have been identified, and they are the third most common major illness in the United States. These diseases can affect any part of the body, from the heart, to the brain, to the eyes and digestive tract. ADs affect roughly 7-10 percent of the U.S. population, and disproportionately affect women, who make up nearly 80 percent of patients with ADs. read more >
Exomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children. 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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