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April 2018 Newsletter

Publication date: 25 Apr 2018


On February 28th, worldwide activities promoting awareness of rare diseases converged on Rare Disease Day. Held on the 28th of February, except for leap years when it is held on the 29th, Rare Disease Day was started by Eurordis, a European rare disease organization.

The definition of a rare disorder varies around the world. However, the problems associated with rare diseases - lack of research, lack of funding, lack of knowledge, lack of information, feelings of isolation - are universal. Rare Disease Day is a moment in time to recognize and reflect on how the rare disease community has moved forward and what challenges still remain.

Rare Disease Day in Washington, DC-- Race for 7 fun run sponsored by Organization for Rare Diseases India (ORDI).
Gene Therapy Approvals Bring Hope to Rare Disorder Communities

Gene therapy, one of the most highly touted treatments in medicine, took major steps forward after decades of unfilled promise. Over the past several months, the U.S. Food and Drug Administration (FDA) has approved three gene therapies – the first two for forms of cancer and the third for people with certain inherited forms of vision loss or blindness.

The Rare Genomics Task Force (RGTF)

The Rare Genomics Task Force is a novel scientist consultation platform where you can have your questions answered by experts. RGTF addresses inquiries from both patients and caretakers regarding rare diseases. The team helps provide patients with information about their rare disease, including related clinical trials and academic research, and helps connect patients to researchers in the field. For more information visit the Rare Genomics Task Force.

Did you know RareShare has a podcast channel?

In our latest RareShare podcast, we look at the importance of patient communities for providing support to one another, and for helping further rare disease research. Austin Letcher, Senior Research Associate for the Coordination of Rare Diseases at Sanford Health (CoRDS) tells us how this free database provides information about rare diseases for both patients and researchers. The database was created especially to advance research into rare diseases, and Austin hopes it can help individual patients find hope for a cure. We look at how the database works, how patients and researchers can join it, and how it can further disease research. Listen on, or subscribe to Rare Genomics/RareShare on iTunes.

Our podcasts are a direct extension of RG's overall mission to be a source of hope and support to the rare disease community. We regularly talk to both experts and patients to find out more about living with rare diseases. 

Listen on, or subscribe to Rare Genomics/RareShare on iTunes to get notified about new episodes including our upcoming episode on Huntington's disease.

Race for 7 Rare Disease Day event in Mumbai, India.
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