Skip to main content
Premium Trial:

Request an Annual Quote

Genomenon, Inozyme Collaborate on MDx Effort for ENPP1 Deficiency

NEW YORK – Genomenon said Thursday that it has formed a partnership with Inozyme Pharma to deliver molecular diagnostic data on a rare pediatric-onset calcification disorder to testing laboratories and clinicians.

The collaboration aims to improve the diagnosis and treatment of ENPP1 deficiency, also known as generalized arterial calcification of infancy or autosomal recessive hypophosphatemic rickets Type 2.

Genomenon has applied its artificial intelligence to produce a variant dataset and companion lists of clinical trials and therapies for ENPP1 deficiency, which the Ann Arbor, Michigan-based company delivers to clinicians and researchers through its Mastermind genomic search engine. Boston-based Inozyme is developing therapies for the rare disease.

"Genomenon's collaboration with Inozyme Pharma represents a shared mission to ensure that no rare disease patient goes undiagnosed or untreated," Genomenon CEO Mike Klein said in a statement. "In the rare disease space, knowledge is power, and this effort will put critical information at the fingertips of doctors seeking diagnoses for their patients."

Inozyme cofounder and CEO Axel Bolte said that Genomenon's technology and dataset should improve understanding of the rare disorder. "We expect our collaboration will improve the speed and accuracy of the diagnostic journey for patients with ENPP1 deficiency by providing the data to them, their caregivers, and medical teams to make informed decisions about their disease, ongoing research, and clinical trials," Bolte said.

The Scan

Steps for Quick Review

The US Food and Drug Administration is preparing for the quick review of drugs and vaccines for the Omicron variant, according to the Wall Street Journal.

Moving Away From Using Term 'Race'

A new analysis finds that geneticists are using the term "race" in their papers less than in years past, as Science reports.

Point of the Program

The Guardian writes that some scientists have called the design of a UK newborn sequencing program into question.

Science Papers Present Multi-Omic Analysis of Lung Cells, Regulation of Cardiomyocyte Proliferation

In Science this week: a multi-omic analysis of lung cells focuses on RIT1-regulated pathways, and more.