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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.