Rare Disease Day is a worldwide day of recognition for the individuals that suffer with a recorded 7000 rare diseases. A “rare disease” is defined in the United States as a disease that affect fewer than 200,000 people at any one time, although standards vary by the country. Rare diseases, taken together, are estimated to affect 10% of the world’s population.
We were proud to be a sponsor of the Rare Disease Day events that occurred Feb 27-28 in Salt Lake City, Utah. As part of the SLC Utah Rare events, CEO Dr. Reid Robison addressed an audience of parents, politicians, researchers, clinicians and other supporters of #RDD2015 during the Rare Disease Day Symposium.
Reid remarked on how genomic medicine has the potential to completely transform the way we detect and understand rare diseases from the very earliest stages of life:
“Just under 4 million babies are born each year in the United States. 1 in every 20 babies born is admitted to the newborn ICU. Up to 1/3 of babies admitted to a newborn ICU have genetic diseases.
“More than 3500 single-gene diseases have been characterized, but traditional genetic testing is only available for some of them. Even if they were available, how does a physician pick the right ones? Plus, most of them cost hundreds, even thousands of dollars each. At least 500 of these genetic diseases have a known treatment.
“Rapid turnaround next-generation sequencing can save time, save lives, save suffering. We need this to happen.
“The director of the US National Institute of Child Health, Alan Guttmacher, said last year:
‘One can imagine a day when every newborn will have their genome sequenced at birth, and it would become a part of the electronic health record that could be used throughout the rest of the child’s life both to think about better prevention but also to be more alert to early clinical manifestations of a disease’.
“We need more research. More sequencing. We need sequencers in rare disease clinics. Eventually, everyone will be get sequenced, likely at birth, and while there’s so much work left to do, I also feel incredibly optimistic about the time we’re living in, and want to encourage us all to band together, double our efforts, and continue to rally for rapid progress in this area so we can help patients and families with rare and undiagnosed diseases get answers, help researchers understand disease mechanisms, and move towards more and more treatments.”
We at Tute are committed to this mission. Join us.
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For more information on Rare Disease and to find out how you can help the cause, visit http://www.rarediseases.org/.
For more information on SLC Rare Disease Day 2015, see http://utahrare.org/.
For Twitter coverage of the events, see #utahrare, #RareDiseaseDay2015, & #RDD2015.