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May 19, 2017

Alexion, San Diego institute partner to diagnose critically-ill infants

PHOTO | Contributed The building at 100 College St. in New Haven is headquarters for Alexion Pharmaceuticals.

Drugmaker Alexion Pharmaceuticals Inc. and the San Diego-based Rady Children’s Institute for Genomic Medicine are collaborating to accelerate the diagnosis of critically-ill newborns with rare genetic disorders.

Terms of the partnership were not disclosed.

The Children’s Institute will combine its genomic research expertise with New Haven-based Alexion’s data science and bioinformatics capabilities to try to advance precision medicine for infants in intensive care. Alexion will share, research and further refine SmartPanel, a platform it developed that personalizes and prioritizes suspected rare-disease genes.

Alexion said as many as 15 percent of babies born in the United States are admitted to neonatal or pediatric intensive care units, and up to one-third of them are likely to be affected by genetic diseases or congenital anomalies, which are the leading cause of death among babies in the neonatal ICU.

John Reynders, vice president of data sciences, genomics, and bioinformatics at Alexion, said the work will help speed up accurate diagnoses for patients with genetic diseases and “clarify available paths of intervention.”

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