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Genomenon Announces Collaboration to Accelerate Genetic Diagnosis for Rare Disease Patients

September 20, 2021 Ann Arbor, Michigan

Genomenon Announces Collaboration to Accelerate Genetic Diagnosis for Rare Disease Patients

Genomenon to Make Essential Genomic Data for Rare Diseases Available to Genetic Testing Labs Worldwide

Genomenon, Inc.®, an AI-driven genomics company, today announced a collaboration with Alexion, AstraZeneca Rare Disease 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. This “diagnostic odyssey” can be difficult for patients and their families to process, both mentally and emotionally. 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 that includes 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 commented: “Our team is pleased to be working closely with scientists at 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.”

People living with rare diseases often face years of misdiagnosis, underscoring the need for robust and readily available diagnostic tools,” said Thomas Defay, Deputy Head of Diagnostics at Alexion. “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 across 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.

Genomenon’s collaboration with Alexion is a very significant step towards professional, standardized, comprehensive variant annotation, which is critical for democratization of genetic diagnosis for rare diseases.” said Dr. Stephen Kingsmore, President and CEO at Rady Children’s Institute for Genomic Medicine, a pioneer in rare disease diagnosis for infants and children. “Placing expertly curated genomic landscapes for each rare disease at the fingertips of diagnosticians is critical for a future of artificial intelligence-assisted diagnosis.

Genomenon has made great strides in the genetic variant interpretation space with its unprecedented AI-driven technology. The Mastermind Genomic Search Engine breaks the “bioinformatics bottleneck” by providing rapid and meaningful genomic information to clinical diagnostic labs and researchers. This new infusion of critical diagnostic and treatment data is a significant step toward increasing options for rare disease patients.


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

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