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Alexion, Sema4 Partner to Improve Diagnosis of Rare Diseases

CHICAGO (GenomeWeb) – Alexion Pharmaceuticals is teaming with sequencing and informatics startup Sema4 in an effort to improve diagnosis of rare diseases and speed drug discovery.

Sema4, a spinout from Mount Sinai Health System in New York, will bring its knowledge in next-generation sequencing and genome interpretation to Alexion's SmartPanel precision medicine platform, the two companies announced this morning.

"This collaboration will help accelerate an accurate diagnosis for patients with rare genetic diseases and reduce the multiyear process that many families face before receiving a diagnosis," John Reynders, Alexion's vice president of data sciences, genomics, and bioinformatics, said in a statement.

Notably, Alexion and Sema4 will be searching for evidence of "genomic shields" that might help patients with known disease-causing mutations resist development of the relevant conditions.

"The advanced data science and bioinformatics capabilities that Alexion and Sema4 both bring to the table will enable us to decode these unique patients who are resistant to their genetic propensity for disease," Sema4 CEO Eric Schadt explained. "By building systems biology models of the rare disease biology in these patients, we can identify novel points of therapeutic intervention for patients."

Financial and other terms of the deal were not disclosed.

In May, Alexion partnered with Rady Children's Institute for Genomic Medicine in San Diego to develop SmartPanel for use in newborns with rare genetic disorders.