Scientific topics
Keywords
Judith Melki M.D., Ph.D.
Course and current status
Education
1974-1982: Lariboisière Saint-Louis Medical School, Paris, University Paris 7
1982-1986: Hospitals of Paris, Internship in pediatrics and genetics
1990: Ph.D., University Paris 6, Neurogenetics, Supervisor: Pr Arnold Munnich
1991: M.D. Lariboisière Saint-Louis Medical University, University of Paris 7
2005: National Council of Medicine, France, Qualification in Medical Genetics
Career
1991-1994: Inserm, Senior Researcher, Lab. Director: Pr Arnold Munnich
1994-1996: Inserm, Research Director 2nd class, Lab. Director: Pr Arnold Munnich
1996-1999: IGBMC, Research Director, Lab. Director: Pr Pierre Chambon
1999-2007: Head of the Molecular Neurogenetics Laboratory, Inserm and University
And Head of the Medical Genetics Unit, Sud Francilien Hospital, Evry
2002-2005: Research Director, 1st class, Inserm and Head of the Molecular Neurogenetics Laboratory, Inserm and University
2005-present: Professor of Medical Genetics, Medicine Faculty, University of Paris 11
2005-2007: Head of the Molecular Neurogenetics Laboratory, Inserm and University and Head of the Medical Genetics Unit, Centre Hospitalier Sud-Francilien
2007-2009: Head of the Department of Human Genetics, Hadassah University Hospital, Israel
2009-present: Professor of Medical Genetics, Medicine Faculty, University of Paris 11; Inserm and University of Paris 11, U-788, Kremlin-Bicetre Hospital. Director: M. Schumacher
Scientific summary
Through positional cloning strategy, J Melki’s team identified SMN, the gene responsible for childhood spinal muscular atrophy (SMA, Lefebvre et al. 1995, 1997). J Melki’s team generated and characterized transgenic mouse lines expressing the Cre recombinase in skeletal muscle, neurons or liver in order to direct a gene mutation in these tissues using the Cre-LoxP system. Using this approach, they created mouse models of SMA and spastic paraplegia (Frugier et al. 2000, Cifuentes-Diaz et al. 2001, Nicole et al. 2003, Vitte et al. 2007, Tarrade et al. 2006).
J Melki’s team performed a whole genome association study in 229 french amyotrophic lateral sclerosis patients, one of the most devastating adult motor neuron diseases in collaboration with Pr. V. Meininger and Dr M. Lathrop using SNP microarrays (Landers, Melki, et al. 2009).
As Head of the Department of Human Genetics in the Hadassah University Hospital (sabbatical period from 2007 to 2009), J Melki’s new team set up a genomic SNP and CNV microarray platform which allowed identifying a new gene responsible arthrogryposis multiplex congenita, a frequent human congenital neuromuscular defect (Attali et al. 2009).
From 2009, J Melki has a research team at the UMR-788 Unit (Inserm and Paris 11 University, Bicetre Hospital). The main objectives are to identify the genetic bases of lower motor neuron diseases including adult and fetal forms (arthrogryposis) and amyotrophic lateral sclerosis using the most recent genomics tools in order to elucidate the pathway linking motor neuron diseases to DNA/RNA metabolism.
