Genomenon Partners with Pharming to Advance APDS Diagnosis
ANN ARBOR, Mich., May 2, 2024 /PRNewswire-PRWeb/ -- 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.
- As the symptoms of APDS can be associated with a variety of conditions, patients typically experience a median 7-year diagnostic delay.
- "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.