Alexion and Sema4 partner in rare disease diagnostics

"The world-class sequencing capabilities at Sema4 coupled with Alexion's SmartPanel analytics will enable a comprehensive evaluation of a patient's genome to uncover pathogenic mutations linked to rare diseases," said John Reynders, PhD, vice president of Data Sciences, Genomics, and Bioinformatics at Alexion. "This collaboration will help accelerate an accurate diagnosis for patients with rare genetic diseases and reduce the multi-year process that many families face before receiving a diagnosis."

Alexion and Sema4 will also collaborate in searching for and decoding rare disease "genomic shields" - a buffering mechanism that enables patients with a known disease-causing mutation in their genome to resist the manifestation of the disease.

Under the partnership, Alexion will share, research, and further refine the SmartPanel, which Sema4 will leverage to optimize the design of next-generation sequencing solutions and accelerate the interpretation of genomic and phenotypic data. Both parties will combine expertise in data science and bioinformatics to decode the network biology of target systems and research the decoding of genomic shields.