Genomenon in new partnership to accelerate genetic diagnosis

ANN ARBOR—The genomics company Genomenon Inc. has announced a partnership with Alexion, a rare disease subsidiary of pharma giant AstraZeneca, that will make critical information needed for the diagnosis and treatment for a set of rare diseases more readily accessible.

The goal of this collaboration is to empower genetic testing labs with the data they need to diagnose patients suffering from rare diseases.

Rare diseases can be devastating to live with, and the process of diagnosing a rare disease can be complex and time-consuming. The average path to a diagnosis lasts seven years, due to the lack of information on these conditions, which can result in missed intervention opportunities. And once a diagnosis is made, the lack of information on available therapies can add considerable weight to this burden. All too often, patients and their caregivers have very limited options.

The collaboration with Alexion was born out of Genomenon’s mission to ensure that no rare disease patient goes undiagnosed and untreated. Working with Alexion, Genomenon is using its AI-driven genomic technology to produce a complete “Genomic Landscape” for an initial group of rare diseases, including:  Wilson disease; Complement-Mediated Thrombotic Microangiopathy (CM-TMA); Lysosomal Acid Lipase Deficiency (LAL-D); and Hypophosphatasia (HPP). The expertly curated genetic datasets for these rare conditions, along with information on available therapies or clinical trials, will then be made available to doctors, researchers, and clinicians through Genomenon’s Mastermind Genomic Search Engine.

Genomenon CEO Mike Klein called Alexion “an organization that has distinguished itself through its focus on rare diseases. Together, we believe our efforts will ultimately improve the quality of life for people affected by these diseases.”

Added Thomas Defay, deputy head of diagnostics at Alexion: “People living with rare diseases often face years of misdiagnosis, underscoring the need for robust and readily available diagnostic tools. 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.”

Mastermind is used by more than 1,000 genetic testing laboratories and medical centers around the globe, connecting patient DNA to relevant scientific research in order to make diagnosis and treatment decisions. The data produced by this collaboration will provide a deeper level of information, including whether certain genetic variations are known to be pathogenic for the disease. Most notably, potential treatment options and open drug trials can be easily exported
into a clinical report for the treating physician and patient to review.

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