History of Fanconi Anemia

Who was Dr. Guido Fanconi

Guido Fanconi was a Swiss paediatrician, born January 1, 1892, Poschiavo, Canton Grisons in the Italian-speaking region of Switzerland; he died October 10, 1979, in Poschiavo.

Guido Fanconi was the son of Pietro Antonio, formerly a coffee shop owner in Spain, and Alice von Grebel, daughter of the president of the district court of Zurich. He went to school in Schiers (in the German speaking part of Switzerland) and Zurich and studied medicine in Lausanne, Bern and Zurich, obtaining his medical doctorate in 1919. From 1920 to 1926 he trained in paediatrics under Emil Feer-Sulzer (1864-1955) at the Kinderspital (the university children’s hospital) in Zurich, and then gained more experience in academic centres in Europe until 1929. That year he became director of the Children’s Hospital and professor of paediatrics at the University of Zurich.

Fanconi is regarded as one of the founders of modern paediatrics and a great innovator in applying the scientific methodology of biochemistry and physiology to the investigation of clinical problems. In 1930 he gave a paper to the 2nd International Conference of Paediatrics in Stockholm in which he advocated the use of raw fruit in the treatment of acute diarrhoea. One participant told him he was crazy, but this led to the development of pectin as an anti-diarrhoeal agent. One of his main concerns was the problems of children in the underdeveloped countries of the world.

Fanconi was president of the International Pediatric Association from 1947 to 1950, and secretary general 1951-1967. In 1945 he founded the journal Helvetica Paediatrica Acta.

Highlights of FA History

  • 1927 – Fanconi anemia was reported
  • 1960s – the chromosome breakage test is identified as a test for diagnosis of FA in patients
  • 1989 – Lynn and David Frohnmayer founds the Fanconi Anemia Research Fund (FARF)
  • 1992 – Work is started on identifying the genes responsible for FA