Alexion Pharmaceuticals, Inc. and Sema4 have announced a strategic partnership to leverage their shared experience in data science and systems biology to accelerate rare disease diagnosis and therapeutic discovery. This new partnership will combine Alexion’s rare disease SmartPanel analytics with Sema4’s proven success in next-generation sequencing and genomic interpretation to further enable novel diagnostic and therapeutic insights into rare diseases.

“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.

“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,” said Sema4 CEO, Eric Schadt, PhD. “By building systems biology models of the rare disease biology in these patients, we can identify novel points of therapeutic intervention for patients.”

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.