Barry Wolf

Recipient of the Robert Guthrie Award 2018

Dr. Barry Wolf studied medicine and received a doctorate in Biochemistry at the University of Illinois College of Medicine in Chicago, Illinois. He specialised in Paediatrics and Medical Genetics and worked in hospitals and medical schools in Richmond, VA, Hartford, CT, Detroit, MI, and Chicago, IL. Besides his clinical work he has been a professor at these institutions and is currently a Professor of Genetics and Paediatrics at Lurie Children’s Hospital and Feinberg School of Medicine at Northwestern University, Chicago (IL).

During his career he has been the recipient of a multiple honours and awards, including the Mead Johnson Award for Paediatric Research and the Borden Award in Nutrition for the American Institute of Nutrition. Dr Wolf is member of a long list of professional societies and (co-)author of more than 250 publications and book chapters.

Most colleagues in the field of newborn screening field will recognise the contributions of Dr. Wolf for his identification of biotinidase deficiency as the primary enzyme defect for most children with late-onset multiple carboxylase deficiency in 1982. He characterized the clinical aspects of the disorder, cloned and sequenced the biotinidase gene and identified over 150 mutations that caused the disorder. He designed the first assay for testing for biotinidase deficiency using dried bloodspot specimens. He performed the first pilot newborn screening program for the detection of biotinidase deficiency in Virginia’s Newborn Screening Program and identified the first child with the disorder in the world by newborn screening in 1984. Newborn screening for biotinidase deficiency is now performed in all the states in the United States and in many countries.

Dr. Wolf has dedicated his research career to the study of various aspects of understanding biotinidase and biotinidase deficiency, including the creation and characterization of the first knock-out mouse with biotinidase deficiency to study various aspects of the disorder in detail, characterization of the different phenotype of the disorder in symptomatic adults and promotion of testing of biotinidase deficiency in adolescents and adults with multiple sclerosis and related disorders, because the phenotype of biotinidase deficiency in these older individuals often mimics that seen in individuals with optic neuropathy and neuropathy.

Dr. Wolf is the “founding father” and the pioneer in the development of analytical methods, follow-up procedures and the treatment for babies identified with biotinidase deficiency along with their applications to newborn screening program worldwide.



Barry Wolf was unable to attend the award ceremony, unfortunately. Rodney Howell (ISNS President) and Marika Kase (PerkinElmer) holding the plaque which was sent to Barry Wolf later.