Genomic Insights

Rare Insights

We've sequenced over 11K pediatric genomes with the Fudan Children's Hospital in China. Here's a glimpse into how they harness the genome to deliver rare disease diagnoses faster.

© WXNC 2017

Some 7,500 rare disorders are known to be caused by single gene mutations. A vast majority of these disorders first appear at birth or in early childhood. For half of these conditions, the responsible gene has been identified. Yet the family of a child with one of these disorders spends an average of 12 years searching before finding a correct diagnosis.


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