- In June 2023, a collaborative research study published in Orphanet Journal of Rare Diseases highlighted key challenges in managing DiGeorge syndrome, including fragmented care coordination, delayed diagnosis, and limited access to multidisciplinary support teams.
- It emphasized the need for integrated clinical pathways, broader awareness among pediatricians, and enhanced funding for gene-based and immunomodulatory therapies to improve early treatment outcomes and long-term quality of life.
