ANN ARBOR – Genomenon, an AI-driven genomics company, announced it will collaborate with Alexion, AstraZeneca Rare Disease to 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.
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 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.
“Our team is pleased to be working closely with scientists at Alexion, an organization that has distinguished itself through its focus on rare diseases,” said Genomenon CEO Mike Klein. “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.”