• By Dana Sparks

Science Saturday: Rare, undiagnosed diseases are relatively common

May 18, 2019

As many as 25 million Americans – about 1 in 13 people - suffer from a rare, undiagnosed condition. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained conditions. 

April 29 was designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common.

Mayo Clinic Center for Individualized Medicine brings together a team of experts, the most sophisticated genomic testing and worldwide research to solve complex, undiagnosed cases.  

Genetic sleuthing of puzzling cases

The Human Genome Project —the first mapping of a person’s genetic blueprint — has unlocked mysteries of rare diseases that for ages bewildered medical science. Completed just 16 years ago, the Human Genome Project has ushered in a new era of individualized medicine that has significantly advanced the ability to diagnose rare, genetic diseases.

The Center for Individualized Medicine’s experts, who make up the Genomic Odyssey Board, consult clinical findings, DNA testing and research to solve rare disorders. Patients come from around the world seeking a diagnosis. DNA testing offers a genetic trail of clues that sometimes leads researchers and clinicians to a scientific pot of gold: a diagnosis that no one else has been able to make. Even if there’s not a treatment, having a diagnosis can be life changing. Patients can stop spending time and money visiting countless health care providers in search of answers.

Mayo Clinic has been able to diagnose approximately 30 percent of patients with unexplained genetic disorders. The Genomic Odyssey Board would like to close the gap on the other 70 percent of cases that go unsolved, and advancements in tools offer hope for a better success rate. Read the rest of the article on the Individualized Science blog.
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