- Study identifies over 100 new variants linked to APDS, improving diagnostic capabilities.
- Pharming Group (PHAR) to host a webcast to discuss findings on June 30, 2025.
- Research suggests that APDS may be more prevalent than previously estimated.
Pharming Group N.V. (NASDAQ: PHAR) has announced an upcoming webcast on June 30, 2025, to discuss breakthrough findings from a study published in Cell journal. The research, conducted by scientists from Columbia University, identified over 100 new variants associated with activated phosphoinositide 3-kinase delta syndrome (APDS), providing significant advancements in diagnosing this rare immune disorder.
The study examined more than 2,000 PIK3CD/PIK3R1 variants in human T-cell lines to address the challenge of variants of uncertain significance (VUS) in APDS diagnosis. The results suggest the prevalence of APDS may be higher than previously thought, with over 1,300 known U.S. patients currently having VUS in the PIK3CD and PIK3R1 genes.
Pharming Group's webcast, featuring Dr. Joshua Milner, will take place at 16:30 CEST / 10:30 EDT. It will provide insights into the study's method, implications, and future steps to facilitate reclassification efforts in clinical genetic testing labs, thereby accelerating the APDS diagnosis process.
For more information and to register for the webcast, visit Pharming's website. The full study is available in the Cell journal for those interested in the detailed findings.
