Andrea Prader

Biography

Studies

• pediatric cardiology, with Ettore Rossi
• endocrine and metabolic disorders
• medical genetics
• pathophysiology of steroid hormones – including intersex-conditions and defects of the steroid synthesis. He also devised the eponymous Prader scale, used to describe genital virilization.
• Prader-Gurtner syndrome, with HP Gurtner
• Prader-Labhart-Willi syndrome, with Heinrich Willi and Alex Labhart

• lipoid congenital adrenal hyperplasia, with RE Siebenmann
• hereditary fructose intolerance, with R. Froesh, A. Labhart et al.
• pseudo-vitamin D deficiency with R. Illig et al.
• Adrenoleukodystrophy,. In 1963, Andrea Prader participated in a research effort of a collective of scientists headed by Guido Fanconi that studied and described a condition related to chronic adrenal insufficiency combined with demyelinating disease of the brain and peripheral nervous system. They came up with diagnostic criteria, pathology and clinical picture of this heritable syndrome, described first by Siemerling and Creutzfeldt in a publication in 1923 of a clinical case they have encountered and the team named it originally after Thomas Addison and Paul Ferdinand Schilder. Today the eponymous title recognizes the physicians who first described it. The public became familiar with one case of the disease in the movie "Lorenzo's oil." This is a primarily pediatric progressive metabolic disorder, demonstrating most commonly in boys between the ages of 5 and 15 and combining the characteristics of Addison’s disease and diffuse myelinoclastic sclerosis. Females are not affected by the condition, however due to linkage of heredity with the X chromosome, they are thought to be genetic carriers.

  International acclaim

The Andrea Prader Prize