Arnold Munnich
Arnold Munnich
Professional address: Hôpital des Enfants-Malades, 149 rue de Sèvres, 75743 Paris Cedex 15
Tel:       33 1 44 49 51 51
Mobile : 33 6 08 23 21 61
Fax:      33 1 44 49 51 50
            - Residency training: Hospitals of Paris (1975)
            - Doctorate in Medicine
               Chairman: Pr J. Rosa - CHU Créteil, April 1979 "The pharmacological characterization of a cooperative hormone receptor"
            - Certificate in Pediatrics
             November 1983,as part of the Internship Hospitals of Paris
            - Recipient of the price of the Internship of Paris - medical section
            Médaille d'Argent; February 1982
            "Carboxylase deficiencies: a vitamin dependent metabolic disorder which is cured by biotin"
   - Resident, Hospital of Paris
   October 1986, Medical Genetic Clinic (Pr J. Frézal)
            - University Professor, Hospital Practician
University René Descartes - Paris V (mention Genetics)
November 1989
- Head of Genetic Service at the Hospital Enfants-Malades
1st October 1992
            - Master's degree in Biochemistry - University Paris VII
                        June 1977 Certificate in Biophysical and Molecular Biology (C3)
                        September 1977 Certificate in Microbiology (C4)
            - National Service - Commissariat à l'Energie Atomique
            - Certificate in Human Genetics (General)
                        University Paris V
                        June 1983 (grade: good)
            - Diplôme d'Etudes Approfondies de Biochimie (DEA)
                        April 1978-April 1979 "The beta-adrenergic receptor of rat liver"
                        Unité INSERM 99, Director Dr J. Hanoune
                        Hôpital Henri Mondor 94010 Creteil
                        Teaching Director Pr C. Burstein
            - Attestation d'Etudes Approfondies de Biochimie (AEA)
                        University Paris VII (grade: Good)
                        June 1979 - option - Hormonal Regulations
                        Pr E. Milgrom, Pr R. Robel
                        - option - Biological Membranes
                        Pr Benedetti, Pr Képès
            - Doctorat de 3ème Cycle de Biochimie
                        University Paris VII (grade: Excellent)
                        November 1981 "The beta-adrenergic receptor of the rat liver. Characterization with a tritylated antagonist.
                        Regulation with hepatic innervation and experimental cholestase"
                        Chairman: Pr C. Burstein, Reviewer: Dr J. Bockaert
                        Research Supervisor: Dr J. Hanoune
            - Doctorate in Genetics
                        Presentation: January 1988. University Paris VI
                        Supervisor: Pr Buttin, Institut Pasteur, Paris
                        Research Supervisor: Dr Axel Kahn, INSERM 129 Unit, Paris
                        "The regulation of the genetic expression of glycolysis  in the liver"
            - Senior Researcher INSERM
                     Postes d'accueil pour les Internes des Hôpitaux Universitaires; october 1982 to october 1986: Laboratory of Dr A. Kahn - INSERM 129 Unit, Institut de Pathologie Moléculaire et Cellulaire. Hôpital Cochin, Paris
            - Member of the INSERM Scientific Commission n°1 (CSS 1)
                        1987 - 1991
            - Acting Director of Unité «Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement » INSERM U-781
                        January 2006
            - Scientific and medical advisor of the President of the French Republic, Nicolas Sarkozy
                        May 2007
- Recipient of the "René-Fauvert" Award from Fonds d'Etudes du Corps Médical des Hôpitaux de Paris, June 1987 (4.500 €)
            - Recipient of an Award from Société Française de Biologie Clinique
                        November 1987 (500 €)
            - Recipient of an Award «Jean-Hamburger»
                        November 1994 (6.000 €)
     Recipient of the « Jean-Pierre Lecocq » Award
            French Académie des Sciences
                        November 1999 (20 000 €)
     Recipient of the « Eloi Collery » Award
            French Académie Nationale de Médecine
December 1999 (20 000 €)
Recipient of the « Grand Prix INSERM »
            January 2000 (honorary, not funded)
Recipient of the European Society of Human Genetics Award
            June 2008 (honorary, not funded) 
-  Recipient of the  Gagna & Van Hech award of the Kingdom of Belgium
              November 2008
            - Member of the French Academy of Sciences
            - Member of the American Society of Human Genetics
            - Member of the  European Society of Human Genetics
            - Member of the Board of the United Mitochondrial Disease Foundation
            - Member of the Editorial Board of the following journals:
            - Journal of Medical Genetics
            - European Journal of Human Genetics
            - Human Genetics
            - Clinical Genetics
            - Human Molecular Genetics
V Brief biography
Since 1980, Arnold Munnich has made every efforts to conciliate the clinical and molecular approaches of genetic diseases in children. His efforts have resulted in the founding of the Department of Genetics, Hôpital des Enfants-Malades, Paris, which brings together i) a Clinical Research INSERM unit, dedicated to the mapping and identification of genes causing developmental and neurogenetic diseases in children, ii) the Medical Genetic Clinic of Assistance Publique, Hôpitaux de Paris.
Thanks to the improvement of the human gene map, he has mapped and/or identified twenty disease causing genes, including the genes for:
- achondroplasia (1/15,000 live births, fibroblast growth factor receptor 3),
- Hirschsprung disease (1/5,000 live births, Ret oncogene),
- spinal muscular atrophy (1/6,000 live births, survival motor neuron, SMN),
- X-linked spastic paraplegia (proteolipid protein),
- Holt-Oram syndrome (brachyury),
- multiple exostosis (EXT),
- Stargardt macular dystrophy (ABCR4),
- Leber congenital amaurosis (retinal guanylate cyclase),
- Saethre-Chotzen craniosynostosis (twist),
- Pearson’s marrow pancreas syndrome (mitochondrial DNA deletion),
  the first nuclear gene for Leigh syndrome (SDH, FP),
- mental retardation (AR) : neurotrypsine,
  several nuclear genes for mitochondrial diseases (BCS1, COX10, SCO1),
- Triple A syndrome (1/50,000 live births, Aladin),
- Incontinentia pigmenti (1/5,000 live births, Nemo, with the International IP Consortium) and ectodermal dysplasia-immune deficiency (1/5,000 live births, Nemo and IkBa).
He has recently shown that Friedreich ataxia results from multiple iron-sulphur protein injury caused by iron overload in mitochondria. Based on this observation, he devised a novel therapeutic approach using short-chain quinones (Idebenone) to protect iron sulphur centers from oxidative stress. This treatment, now given to all novel cases, cures cardiomyopathy in 85% of patients. He has also identified a novel inborn error of quinone synthesis resulting in multiple respiratory chain deficiency and caused by a point mutation in a polyprenyl transferase gene. Most importantly, children are cured by oral quinone administration.
A. Munnich has fostered several research groups and young investigators that gradually took over the leadership and seniorship of their projects.
What are the benefits for the children and their families ? The mapping and identification of these genes makes carrier testing, genetic counselling and prenatal diagnosis of these conditions now  feasible and allow novel therapeutic approaches. The originality of his project consists in the combination of a clinical expertise and a molecular approach of medical genetics in the unique environment of a large european pediatric hospital.