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Genomenon and Alexion Collaboration to Accelerate Genetic Diagnosis for Rare Disease Patients

September 20, 2021

AI-driven genomics company Genomenon and Alexion, AstraZeneca Rare Disease will collaborate to make critical information needed for the diagnosis and treatment for a set of rare diseases more readily accessible.

Photo: Mike Klein, CEO of Genomenon

“Together, we believe our efforts will ultimately improve the quality of life for people affected by these diseases,” said Mike Klein, CEO of Genomenon.

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 goal of this collaboration is to empower genetic testing labs with the data they need to diagnose patients suffering from rare diseases. Working with Alexion, Genomenon will use 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 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.

“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 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. Also, 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 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.”

Author: Rare Daily Staff

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