Currently, the UMR_S910 research unit consists of 9 independent research teams comprising 136 people. Our laboratory is located at the Medical School of Marseille. It is a research unit of the French Institute for Health and Medical Research (Inserm) and the Aix-Marseille University. Our unit, called "Medical Genetics & Functional Genomics", is directed by Nicolas Levy, M.D., Ph.D., an internationally recognized geneticist.
The main objectives of our research are to study the genetic and cellular mechanisms involved in rare genetic disorders and to explore their cellular and phenotypic consequences. Clearly intended to contribute to a better understanding of these diseases, to develop tools for their diagnosis, optimize the management of patients and prevention of these diseases, with as ultimate goal to be able to offer innovative therapeutic strategies. Research developed over several years in the UMR_S 910 are connected to clinical research activities conducted in the Department of Medical Genetics (Hôpital de la Timone). Thus, our research projects are performed in a context of translational research.
The scientific equipment necessary for this type of research is grouped into innovative and effective technical platforms. These platforms include an exploratory animal house, an imaging platform, and an platform for genomics and transcriptomics studies. One of the key objectives of the unit is to encourage teams to use these equipments in order to develop their research. Another priority is to encourage the development and integration of new independent research teams.
The bioinformatics part of our team has been involved for years in different topics.
1) The analysis of the many variations identified during the sequencing process of genes. In order to identify causative mutations, especially if they are missense mutations or null substitutions that only impact mRNA, we developed two tools: UMD-Predictor® to predict the pathogenicity of missense mutations, and the Human Splicing Finder® (HSF) (http://www.umd.be/HSF3/) to identify splicing signals and evaluate the impact of mutations on splicing. We currently develop the UMD-High Throughput Sequencing system (UMD-HTS®) that integrates algorithms from UMD-Predictor® and HSF® in order to allow a rapid selection of variations of interest from large-scale sequencing experiment.
2) Locus Specific Databases (LSDBs). Since 1994, our team developed the Universal Mutation Database system (UMD®) an international reference system for the creation of Locus Specific Databases (LSDBs).
3) Patient registries. We also developed through years, patient registries for neuromuscular rare diseases and others.
Our lab is also involved in the identification of new disease genes or pathogenic mutations in familial or sporadic cases affected with rare diseases (like dystonia) and colorectal cancers using Next-Generation-Sequencing approaches. Concurrently to the Human genetic approach, our team has also set up the use of Caenorhabditis elegans as an animal model for dystonia to understand the physiopathological mechanisms of this disease.
Head : Christophe BEROUD, PU-PH
David SALGADO, Research engineer
Jean-Pierre DESVIGNES, Engineer
Céline GUIEN, Engineer
Marc GARIBAL, Engineer
Coralie GRATTEPANCHE, Master student
Mélanie CORCUFF, Master student
GENETICS of DYSTONIA:
Head : Gwenaëlle BEROUD, Senior Researcher
Medjber KAHINA, Visiting Ph.D
Constance RENAULT, Master student
Medical Genetics & Functional Genomics
Faculté de Médecine
27 Bd Jean Moulin
13385 Marseille Cedex 05
Phone : +33 (0)4-91-32-49-01
Fax : +33 (0)4-91-79-72-27
From Marseille-Provence airport, take the coach "navette" to the Saint-Charles train station.
The coach operates 7/7, from 5:10 am to 11:30 pm. It reaches the train station in approximately 25 minutes.
Price : 9 euros one-way.
Taxi (+33 442-142-444) will take you to the Saint-Charles station in 25 minutes (30 kilometers).
Price : 40 euros one-way.
In the Saint-Charles station, take the subway, line 1 to "La Timone" station (10 minutes).
The INSERM UMR_S 910 laboratory is located in the green aisle on the 4th and 5th floors of the building of the "Faculté de Médecine la Timone"