Martín G. Martín, M.D., M.P.P.

Martín is a physician-scientist who studies the molecular causes of various inherited disorders associated with intestinal failure in children. His initial research focused on investigating Na/glucose cotransporter gene mutations, which lead to glucose-galactose malabsorption. He discovered a new form of chronic congenital malabsorptive diarrheal disorder caused by mutations in a gene called NEUROG3, and found that mutations in the PCSK1 gene lead to generalized malabsorption. These findings suggested for the first time the importance of enteroendocrine cells in nutrient assimilation.

Martín seeks to overcome current challenges associated with treating intestinal conditions by developing cell-based therapies that use a patient’s own genetically modified cells to repair the intestine. Using induced pluripotent stem cells, he created intestinal organoids from the tissue of patients with intestinal conditions. These organoids can be used to study the nature of severe intestinal conditions, test gene therapy strategies that use CRISPR/Cas9 to correct mutations and screen drug candidates that may treat these conditions.

The most common forms of intestinal failure, which can lead to short bowel syndrome, or SBS, are often associated with various malformations and ischemia. These conditions are particularly prevalent among premature infants. The majority of the most severe forms require long-term parenteral nutritional support. Working with surgical colleagues who have developed methods to stretch intestines as a treatment for SBS, Martín is examining the role of the mechanosensitive channels Piezo1 and Piezo2 on the function of the epithelial and muscularis layers during homeostasis and stretch. Methods he is developing can also inform the treatment of more common digestive issues, such as diarrhea and constipation.