DGAT1 Deficiency: Uniting Stakeholders to Advance Knowledge, Care & Advocacy - DGAT1 deficiency is a rare lipid metabolism disorder that results in congenital diarrhea with protein losing enteropathy and prolonged parenteral nutrition dependence. Despite its discovery over a decade ago, DGAT1 deficiency remains under-recognized and incompletely understood. The DGAT1 Deficiency Symposium, to be held virtually on Sunday, November 9, 2025, seeks to address the crucial question: how do we change the course of the disease? The conference will bring together patients and families, health care providers, investigators, and industry partners, to foster collaborative learning and innovation. The aims of the project are particularly relevant to the missions of NCATS, which focuses on translating research observations into practical solutions for patients, and of NICHD, which focuses on improving the health and well-being of children affected by genetic disorders: Establish a disease registry. Initiate a prospective longitudinal study of DGAT1 deficiency. Engage basic science and translational researchers in elucidating the mechanism of lipotoxicity induced enterocyte dysfunction in DGAT1 deficiency, providing further insight into genotype-phenotype correlations, and identifying therapeutic targets. Disseminate best practice guidelines to healthcare providers and share resources with patients and families. Facilitate early diagnosis. Identify and address the unmet needs of patients and families affected by this disorder.
