Home Department: Bioengineering
Mentor: Vittorio Sebastiano, Obstetrics & Gynecology

“Dissecting the Transcriptional Role of TBX1 in Human Pharyngeal Endoderm”

22q11 Deletion Syndrome is the most common chromosomal deletion syndrome and affects 1 out of 2000-4000 newborns, resulting in a number of phenotypic abnormalities that severely impair the life of the patients and often result in premature mortality. The various deletions in this syndrome encompass 30-50 genes, but the loss of a single copy of the TBX1 gene is sufficient to recapitulate most symptoms related with larger deletions. This suggests that TBX1, which has an important role in the formation of tissues and organs during embryonic development, plays a fundamental role in the disease. The goal of Matthew’s Stanford Bio-X research is to investigate the molecular role of TBX1 in human stem cells, using a highly multidisciplinary approach that encompasses stem cell biology, genomics, and bioengineering.