London, England between 1965 and 1966. In 1965, Townes described the first patient with isolated trypsinogen deficiency with secondary lack of activation of chymotrypsin and procarboxypeptidase. The 6-week-old infant was unable to hydrolyze dietary protein due to a singular deficiency of pancreatic trypsinogen. This inborn error of metabolism, resulting in failure to thrive, became known as trypsinogen deficiency disease. In 1972, he identified a rare inherited syndrome in a father and four of his six children, characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations, subsequently known as Townes–Brocks syndrome. Townes-Brocks syndrome was later found to be caused by a mutation in the SALL1 gene on chromosome 16q12.1. Townes was a member of the faculty and Professor of Pediatrics and Obstetrics and Gynecology at the University of Massachusetts Medical School from 1979 to 1995 where he directed the Genetic Clinic and the Cytogenetics Laboratory. In 1995 he retired to become an emeritus Professor of Pediatrics and Obstetrics and Gynecology. References External links https://profiles.nlm.nih.gov/ps/retrieve/ResourceMetadata/JQBBBV [Correspondence with Victor A. McKusick] 1927 births 2017 deaths American pediatricians American biologists Scientists from Massachusetts University of Rochester alumni Harvard University alumni United States Navy personnel of World War II People from Salem, Massachusetts University of Rochester faculty University of Massachusetts Medical School faculty