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Genomenon, Alexion Pharmaceuticals Team on Rare Disease Dx

NEW YORK – Genomenon said Monday that it is collaborating with Alexion Pharmaceuticals to provide genetic testing laboratories with data to help diagnose patients with rare diseases.

Working with Alexion, Ann Arbor, Michigan-based Genomenon will apply its artificial intelligence-driven technology to create what the firm calls a "genomic landscape" for specific conditions, including Wilson disease, complement-mediated thrombotic microangiopathy, lysosomal acid lipase deficiency, and hypophosphatasia. Alexion, which was acquired by AstraZeneca in July, and Genomenon may add other rare diseases to the collaboration in the future.

Genomenon will make this dataset, as well as information on available treatments and clinical trials, available through its Mastermind genomic search engine, which allows clinicians to index genomic variants from scientific publications to help diagnose patients suffering from rare and genetic diseases.

"People living with rare diseases often face years of misdiagnosis, underscoring the need for robust and readily available diagnostic tools," Thomas Defay, deputy head of diagnostics at Alexion, said in a statement. "We are encouraged by our collaboration with Genomenon and the potential to advance our collective efforts to enable earlier diagnosis and treatment for people living with rare diseases."

Stephen Kingsmore, president and CEO of Rady Children's Institute for Genomic Medicine, called the collaboration "a very significant step towards professional, standardized, comprehensive variant annotation," which he said is key to diagnosing rare diseases. "Placing expertly curated genomic landscapes for each rare disease at the fingertips of diagnosticians is critical for a future of artificial intelligence-assisted diagnosis," Kingsmore said.

Rady has been a partner of Alexion since 2017.

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