AstraZeneca’s Alexion taps DNA profiler Genomenon for rare disease diagnoses

AstraZeneca’s freshly minted subsidiary Alexion Pharmaceuticals has tapped the artificial intelligence startup Genomenon to help with its work in rare diseases.

The collaboration will be aimed at genetic testing laboratories, with the goal of shortening the overall amount of time it takes for a definitive diagnosis, which at times can take several years and as many specialists.

With Alexion, Genomenon plans to use its AI programs to produce “genomic landscapes” that illustrate these conditions’ underlying genetic drivers—starting with Wilson disease, complement-mediated thrombotic microangiopathy, lysosomal acid lipase deficiency and hypophosphatasia.

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The company’s datasets will then be made available to doctors, clinicians and researchers, providing reports that can help quickly connect any variations found in patients’ DNA test results with relevant scientific research and any potentially available treatments or open clinical trials.

“People living with rare diseases often face years of misdiagnosis, underscoring the need for robust and readily available diagnostic tools,” Thomas Defay, Alexion’s deputy head of diagnostics, said in a statement.

The landscape-view of genetic mutations will also be used by Alexion researchers to trace back the changes most likely to be the main cause of the disease. 

This past May, Genomenon published its dataset on amyotrophic lateral sclerosis, known as ALS, based on pulling information from scientific literature. It identified 36 genes of interest and about 2,000 variants associated with the rare neurodegenerative disease. The Ann Arbor, Michigan-based company said the genomic data provides links to age of onset and the rate of disease progression.

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And earlier this year, Genomenon posted $5.3 million in new financing to expand its commercial operations. The round was joined by BroadOak Capital Partners, Green Park & Golf Ventures, Red Cedar Ventures, Michigan Rise, Invest Detroit Ventures, IrishAngels, Michigan Angel Fund, Invest Michigan and Atain Specialty Insurance Company.

Alexion, meanwhile, reaped a much larger payout: AstraZeneca’s $39 billion takeover closed in late July, forming a new base for the British drugmaker’s rare disease efforts in Boston and pushing the company toward an ambitious annual sales goal of $40 billion in the next four years up from the $26 billion it made in 2020.

To help reach that mark, AstraZeneca hopes to wield Alexion’s complement-biology platform across a broader pipeline and explore the use of its rare disease-focused C5 inhibitors in more common conditions spanning cancer, neurology and respiratory research.