WuXi NextCODE is featured in a Bloomberg Businessweek article on a story of how big-data approach to genomics has helped a patient affected with rare disease end her thirty-year diagnostic odyssey in three weeks. When Jackie Smith was 3-years-old, doctors had told her parents to take her home and to enjoy her while they could. Smith, now 35, has lived in the shadow of the diagnosis of rare muscle disease her whole life, because her doctors were unable to diagnose what accounts for her weak limbs and turned-in ankles. That changed this past February, when Claritas Genomics, which uses WuXi NextCODE’s genome analysis and interpretation system, gave her the answer in less than three weeks. Claritas has developed novel panel of genes that affect children’s nervous systems, which runs nearly instantly on NextCODE’s system, that enabled the identification of her condition as centronuclear myopathy.
Although sequencing a person’s DNA is now simple and quickly falling in cost, the challenge today is making sense of that data in the context of all of the available databases, and using more sophisticated systems, like WuXi NextCODE’s, to systematically search for variants that may never have been seen before. “The analysis and interpretation have become the bottleneck in diagnosis now that sequencing is the easy part,” says Jeff Gulcher, CSO at WuXi NextCODE. Claritas is working to fill in the gaps by isolating specific genes and comparing them against databases of hundreds of thousands of people’s DNA compiled by WuXi NextCODE.
While there isn’t yet a cure for Smith’s illness, she is participating in research that may one day lead to treatments or more supportive care. “Just being connected feels good. I felt alone for a long time,” she says. For the patients, it is some relief to know the cause of their condition. Getting an accurate diagnosis quickly can be critical and life-changing for families with young children. WuXi NextCODE and Claritas Genomics are working together to mine the world’s DNA databases for the right diagnosis for patients.
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- deCODE Studies Demonstrate the Power of Truly Big Genomics for Improving Medicine Worldwide
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