28 February is World Rare Disease Day – an event launched in 2008 to galvanize public awareness and research momentum for rare diseases. In the United States, a disease is considered rare if it affects fewer than 200,000 people. Yet there are more than 7,000 known rare diseases. This ratio means that there’s little funding for rare-disease research, so even getting a diagnosis can be a years-long odyssey, never mind treatment. Rare disease patients — the majority of them children — too often fall through the cracks.
“World Rare Disease Day unites all the thousands of rare diseases to speak with one voice and raise attention to this often overlooked sector of health research,” says Jimmy Lin, a TED Fellow and the founder of the Rare Genomics Institute, which serves the needs of patients suffering from rare diseases.
To mark World Rare Disease Day, the RGI has released a free ebook — Diagnosing Rare Diseases: Giving Families Hope Through DNA Testing, Crowdfunding, and Access to Experts — for families of those living with rare diseases. Written by Ana Sanfilippo and Jimmy Lin, the 150-page resource features interviews with the first-ever patients to be diagnosed using genomic sequencing, inspiring stories of those whose lives have been saved, advice for parents, as well as conversations with respected rare-disease physicians and genomics experts.
“We hear so many amazing stories of heroic parents fighting for their rare disease children and the amazing scientific results from this work that we think it will inspire many families in the trenches,” says Lin. “Plus, we get a lot of questions about the science and thought an information guide may be helpful.”
RGI helps individual patients with by giving them access to state-of-the-art genomics sequencing technology (see video, above). It offers a crowdsourced platform to raise funding for research, pairs patients with doctors and researchers, and helps families tap into the support of other affected families. To learn more about the Rare Genomics Institute, read the TED Blog’s conversation with Lin.