Genomenon, a genomics company, and the pharmaceutical company Alexion will be collaborating to produce a complete “Genomic Landscape” for rare diseases including lysosomal acid lipase deficiency (LAL-D).

The genetic datasets, which will include information about therapies and clinical trials, will be made available to doctors, researchers, and other clinicians through a specialized genomic search engine called Mastermind. 

“Our team is pleased to be working closely with scientists at Alexion, an organization that has distinguished itself through its focus on rare diseases,” Mike Klein, chief executive officer of Genomenon, said in a press release. He added, “Together, we believe our efforts will ultimately improve the quality of life for people affected by these diseases.”

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Thomas Defay, deputy head of diagnostics at Alexion, stated, “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.”

Read more about LAL-D diagnosis

Mastermind is already used by more than 1000 genetic testing laboratories and medical centers across the world. It connects patients’ genetic information to relevant scientific research and helps reach diagnoses and determine the best treatment options. 

With this collaboration, a deeper level of information will be available, according to Genomenon. This will include whether certain genetic variations are pathogenic. The genomic search engine will also allow potential treatments and open drug trials to be exported into a clinical report for the treating physician and patient.

Other rare diseases that will be included in the Genomic Landscape project initially are Wilson disease, complement-mediated thrombotic microangiopathy (CM-TMA), and hypophosphatasia (HPP). 

Rare diseases are very difficult to diagnose, and many patients go several years without receiving a proper diagnosis. This can lead to mental and emotional complications, and it means that treatment cannot be initiated in a timely manner. Additionally, after a diagnosis is reached, it can be difficult to access information about available treatments.


Genomenon announces collaboration to accelerate genetic diagnosis for rare disease patients. News release. Genomenon; September 20, 2021.