Skip to main content
Premium Trial:

Request an Annual Quote

Genomenon Partners With Pharming to Improve Diagnosis of Rare Immunodeficiency Syndrome

NEW YORK – Genomenon said Thursday that it has partnered with Pharming Group to make variant data on two genes associated with a rare immunodeficiency syndrome available to genetic testing labs and others.

Under the terms of the agreement, Genomenon is providing all published variants in the PIK3CD and PIK3R1 genes linked to activated PI3K delta syndrome (APDS) that have been summarized and classified utilizing American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines. Additionally, the partners will release curated variant data into Genomenon's Mastermind Genomic Intelligence Platform to allow clinical users to review the curations and classifications to improve diagnostic yield. 

Financial and other terms of the deal were not disclosed.

"Pharming's dedication to serving patients with rare diseases is the driving force behind forming partnerships with companies such as Genomenon," Pharming Senior Director of Molecular Diagnostics Heather McLaughlin said in a statement. "By providing laboratories, as well as clinicians, with comprehensive and clear variant interpretation data, we are helping to ensure patients with APDS receive earlier, more accurate molecular diagnoses, and ultimately, appropriate medical management."

APDS is a rare primary immunodeficiency affecting approximately one to two people per million worldwide.

Genomenon said previously it is attempting to curate the entire human genome by the end of 2025.