Abstract

Early in his career at Duke University, Charlie pioneered the development and application of creatine phosphokinase isoenzymes and creatine kinase myocardial band analysis for cardiac injury. His interest in isoenzymes in Reye syndrome led him to sabbatical studies of organic acidurias at the Medical Research Council with Alec Lawson and Ron Chalmers. Upon returning to Duke, he created the Mass Spectrometry Facility with David Millington. This led to the discovery of propionylcarnitine in methylmalonic acidemia and propionic acidemia and many other disease-specific acylcarnitines. He also helped to pioneer the application of tandem mass spectrometry to newborn screening. He recruited other geneticists (Y-T Chen, SG Kahler) and genetic counselors, who together created a medical genetics training program. He collaborated with scientists and trainees from around the world. Work with Henri Brunengraber and others began the development of triheptanoin as a truly new therapy for long-chain fatty acid disorders. When he left Duke in 1995 to direct the Summers Metabolic Institute he concentrated on his work with triheptanoin, and expanded newborn screening. He was a member of numerous scientific societies and support organizations for fatty acid disorders and organic acidemias. He is survived by his wife Diane, five children from two marriages, and eight grandchildren.

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call