Judith MELKI, INSERM Director of research, Institute of Genetics and Molecular and Cellular Biology (INSERM-CNRS), Strasbourg, France Arnold MUNNICH, Professor, University René Descartes—Center for Genetics, Necker Hospital, Paris, France Thanks to his outstanding work in the area of clinical genetics and gene mapping, Arnold Munnich has been able to localize and identify nearly twenty genes which alteration lead to severe monogenic diseases. In addition, Arnold Munich can be credited for the discovery that Friederich’s ataxia results from excess iron load within mitochondria. The localization and identification of the SMN gene, which was achieved in collaboration with Judith Melki, has opened the door to the treatment of spinal amyotrophy. Indeed, SNE deficiency is responsible for this crippling disease, the most frequent recessive disease in Europe after cystic fibrosis, which often leads to early infant mortality. |