The Department of Human Genetics at the Lebanese American University has recently made a breakthroughin understanding the role of genetics in rare cases of immunodeficiency.  The team from the Department of Human Genetics at the Gilbert and Rose-Marie Chagoury School of Medicine at the Lebanese American University (LAU) has identified a rare genetic disease linked to the SH3GL1 gene, which is concerned mostly with endocytosis and intracellular signaling pathways. Thecondition corresponds to a form of primary immunodeficiency caused by a lack of the endophilin A2 protein, which this gene encodes. The deficiency of A2 affects the production of antibodies, weakening a person's natural defenses.  Identifying the genetic cause of the yet-unnamed disease would mean patients could receive better informed treatment and gain a deeper understanding of their health. In Lebanon, it is estimated that around 200,000 people suffer from rare diseases, often due to close relatives having children. (ICE BEIRUT)

Fonte notizia: Bank Audi, Lebanon Weekly Monitor, 24 Feb - 2 Mar 2025