Mendelian disorders deserve more attention.
The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world's population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.
Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospital of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland. Stylianos.Antonarakis@medecine.unige.ch
Stylianos E
SE
Antonarakis
Jacques S
JS
Beckmann
D000818:Animals; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005826:Genetics, Medical / Q000639:trends*; D006801:Humans; D051379:Mice; D008957:Models, Genetic; D020412:Multifactorial Inheritance / Q000235:genetics*