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Genomenon Partners with Pharming to Advance APDS Diagnosis

May 2, 2024 Ann Arbor, MI

Genomenon Partners with Pharming to Advance APDS Diagnosis

Genomenon Making Variant Data on the PIK3CD and PIK3R1 Genes Available to Genetic Testing Labs Across the World

Genomenon, a genomic intelligence company, has partnered with Pharming Group in an effort to make variant data on the PIK3CD and PIK3R1 genes available to genetic testing labs, as well as clinicians and researchers, worldwide. This data enables accurate molecular diagnoses and supports the precise medical management of the disease. The partnership also improves the ability of diagnostic laboratories and clinicians to resolve variants of uncertain significance (VUSs) and advances Genomenon’s mission to curate the human genome.

APDS, or Activated PI3K delta syndrome, is a rare primary immunodeficiency affecting approximately 1 to 2 people per million worldwide. It was first characterized in 2013 and is caused by variants in either the PIK3CD or PIK3R1 genes, which are vital to the development and function of immune cells in the body. Disease-associated variants in these genes can lead to hyperactivity of the PI3Kδ (phosphoinositide 3-kinase delta) pathway, which causes immune cells to develop and function abnormally, leading to immunodeficiency and immune dysregulation. While the severity of APDS can vary widely, individuals with the disorder can develop recurrent, severe infections, bronchiectasis, lymphoproliferation, and even lymphoma. As the symptoms of APDS can be associated with a variety of conditions, patients typically experience a median 7-year diagnostic delay. Early mortality is also reported in patients with APDS, with their survival probability being up to 28% lower than the global population.

Pharming has long been recognized for its commitment to developing and commercializing innovative protein replacement therapies and precision medicines to serve the unserved rare disease patient. By partnering with Genomenon, Pharming is helping to provide clinicians and genetic testing laboratories with access to vital variant information, who will be able to use Genomenon’s platform, Mastermind, to access comprehensive PIK3CD and PIK3R1 variant data via a single database.

“Pharming’s dedication to serving patients with rare diseases is the driving force behind forming partnerships with companies such as Genomenon,” said Pharming Senior Director of Molecular Diagnostics, Heather McLaughlin. “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. Pharming has an unwavering commitment to rare disease patient populations and supporting the caregivers and doctors who serve these patients daily.”

Through its Mastermind Genomic Intelligence Platform, Genomenon delivers disease-specific genomic datasets that identify the most comprehensive set of causative variants for a specific disease. These troves of rich genomic information—known as variant landscapes— complement Pharming’s work by improving accessibility and understanding of the genetic underpinnings of APDS. Genomenon is providing a variant landscape of all published variants in association with activated APDS that are summarized and classified utilizing American College of Medical Genetics (ACMG)/ Association for Molecular Pathology (AMP) guidelines and tags relevant associations. Additionally, the release of curated data into Mastermind for Genomenon’s clinical users (clinical laboratories, geneticists, etc.) allows users to review the curations and classifications and in turn, that will improve diagnostic yield.

“Through our AI-driven technology and genomic expertise, Genomenon has produced the world’s most comprehensive variant landscape on PIK3CD and PIK3R1. This curated genetic dataset is being made available to the community through Genomenon’s Mastermind Genomic Intelligence Platform to help inform and accelerate the diagnosis for patients with APDS,” said Mike Klein, Genomenon CEO. “This partnership has the potential to enhance validation, diagnostic developments, and patient identification for precision medicine.”


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

Pharming Group N.V

Pharming Group N.V. (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases. Pharming is commercializing and developing an innovative portfolio of protein replacement therapies and precision medicines, including small molecules, biologics, and gene therapies that are in early to late-stage development. Pharming is headquartered in Leiden, Netherlands, and has employees around the globe who serve patients in over 30 markets in North America, Europe, the Middle East, Africa, and Asia-Pacific.

For more information, visit www.pharming.com and find us on LinkedIn

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