Pharming Group to host webcast on findings of a new study published in Cell advancing functional classification of variants of uncertain significance (VUS) to improve APDS diagnosis

Core Insights - Pharming Group N.V. is hosting a webcast featuring Dr. Joshua Milner to discuss a recent study on genetic variants in inborn errors of immunity, published in the journal Cell [1][4][8] Study Overview - The study, led by researchers from Columbia University, focuses on improving clinical diagnosis and management of primary immune disorders, specifically activated phosphoinositide 3-kinase delta syndrome (APDS) [2][3] - The research addresses the challenge of interpreting genetic testing results that often yield variants of uncertain significance (VUS) [2][3] Key Findings - Over 1,300 U.S. patients have a VUS in the PIK3CD and PIK3R1 genes related to APDS [3] - The research team introduced over 2,000 variants into human T-cell lines, confirming known disease-causing variants and identifying over 100 new variants linked to PI3Kδ pathway hyperactivity [3][8] - The study suggests that the actual prevalence of APDS may be higher than previously estimated [3][8] Implications for Genetic Testing - The findings are expected to enable clinical genetic testing laboratories to reclassify some VUSs, facilitating a quicker path to definitive APDS diagnoses for many patients [5][8] - Pharming's Chief Medical Officer emphasized the importance of increased genetic screening and awareness for timely diagnosis [5] Future Directions - The webcast will include discussions on collaboration with genetic testing laboratories for VUS reclassification and further studies on additional variants [4][5] - The study is supported by a National Institutes of Health grant and a research agreement with Pharming [6] About APDS - APDS is a rare primary immunodeficiency characterized by variants in the PIK3CD or PIK3R1 genes, leading to immune cell dysfunction [10] - Symptoms include severe recurrent infections and a median diagnostic delay of 7 years, which can result in significant health complications [10] About Leniolisib - Leniolisib is an oral PI3Kδ inhibitor approved for treating APDS in patients aged 12 and older, showing significant improvement in clinical trials [11] - The drug is under regulatory review in multiple regions and is being evaluated in additional clinical trials for other primary immunodeficiencies [11] Company Overview - Pharming Group N.V. is a global biopharmaceutical company focused on developing innovative medicines for rare diseases, headquartered in Leiden, the Netherlands [12]