In memoriam: Gerald (Gerry) Salen, MD (1935–2020)

摘要

The fields of bile acid metabolism and rare diseases lost a giant on November 19, 2020. Gerald (Gerry) Salen was born in Philadelphia, PA, on February 13, 1935, to Henry and Belle Salen, both of whom were from families that had emigrated to the United States from Bialystock and Odessa in Eastern Poland/Ukraine in the 1880s, fleeing the pogroms. He received a bachelor of science degree in Pharmacy from Temple University in Philadelphia and subsequently received his MD from the Thomas Jefferson School of Medicine in Philadelphia. Following his residency in Gastroenterology at Jefferson, and a research fellowship for 1 year at Jefferson, he secured a position as a Guest Investigator and Associate Physician in the lab of Dr Edward "Pete" Ahrens at the Rockefeller University in 1966. The University at that time was at its scientific peak, and it was a unique opportunity for young investigators to initiate their careers. The Ahrens' laboratory was in a particularly productive period of research on the metabolism of cholesterol, bile acids, and related sterols. Several research fellows or junior faculty members were beginning their distinguished careers in medicine at that time in the Ahrens' lab: Alan Hofmann, Norton Spritz, Jan Davignon, Eder Quintao, Robert Lees, and one of us (Scott Grundy). Dr Ahrens was reportedly a tough task master; this was a rich opportunity for Gerry Salen to begin his scientific career in clinical research. Although his early focus was on the metabolism of noncholesterol sterols, specifically sitosterol and cholestanol (1), Dr Ahrens insisted that research be carried out primarily in humans. It was during this time that Gerry became interested in patients with a rare disease called Cerebrotendinous Xanthomatosis (CTX) and thus began a more than 5-decade plus life-long passion to uncover the pathophysiology of this rare bile acid disorder in humans (2). This rare disorder is caused by loss of sterol 27-hydroxylase (CYP27A1), which causes a lack of chenodeoxycholic acid production and an accumulation of cholestanol and toxic bile alcohols. He also carried out investigations on the metabolism of sitosterol, which led to a long-standing interest in another rare human disorder, Sitosterolemia (3).