Photo Courtesy of http://www.niknightswbc.btck.co.uk/ParalympicsLondon2012%5B/caption%5D
Do you donate blood? Or perhaps you’re an organ donor. If so, you see the value in contributing – literally, a part of yourself – to the greater good. In addition, you may see the potential direct benefit for you or those you care for. Blood and organ donations are now common practice, and it’s easy to see that their value is irrefutable.
What if we extended this concept to data about diseases. Patient registries are ways to bring data together to be used to understand disease, identify clinical trial participants, and, potentially provide statistical power to help develop new disease treatments.
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically “any disease or condition that affects less than 200,000 persons in the United States,”
To give a sense of magnitude and impact, there are roughly 7,000 rare diseases and collectively they affect 300 million people worldwide. 1 in 10 people in the US suffer from a rare disease. (Source: Siren Interactive)
Coping with rare disease
Those with rare diseases can face serious challenges. Attaining a proper diagnosis can be difficult, even among the more well-known rare diseases. Symptoms are often confusing and mis-diagnosis is not uncommon.
In fact, according to the FDA, for one-third of those with a rare disease, accurate diagnoses can take one to five years. And, patients face challenges associated with finding and accessing care:
… [patients are] often are so isolated that they may never know anyone else with the same disease. Patients often must travel long distances to visit the few doctors knowledgeable about their illnesses, and the costs involved with diagnosis, treatment, and other related expenses can be exorbitant.
With a little help from my friends
One way rare disease patients have found a way to meet their challenges is by connecting with one another online. Bensfriends.org is one such place where patients and caregivers are conversing, sharing and supporting each other.
Are you a microexpert? You might be and may not even know it.
A microexpert is an individual with a uniquely valuable set of experience and information, that combined with other microexperts can create a powerful collection of knowledge of use to a broader community. When microexperts are collaborating, there’s potential for valuable knowledge to emerge.
Networks of microexperts
Dr. Roni Zieger, in a recent blog post, discusses networks of microexperts. In her post, Dr. Zieger discusses the next revolution in medical progress, as she sees it, is relying upon microexperts in a systemic way to inform decision making around patients and disease. And patient communities, which are really made up of patient microexperts, are already on the job: More…
Advances in computational science and biology enable us to understand ourselves in ways that we could not just a few years ago. Co-founded in 2006 by Anne Wojcicki, wife of Google co-founder Sergey Brin, 23andMe has emerged in the digital age to provide a view of our personal genetics - all for less than $100!
23andMe is evidence of Moore’s Law at work, and, in addition to giving unprecedented insight into our personal genome, efforts like 23andMe have innovative potential to change the way drugs are found and developed.
Thanks to Moore’s law, the cost per Human Genome is falling rapidly. More…