Ecole Doctorale
BIOLOGIE SANTE
de Lille

Faculté de Médecine
Pôle Recherche
1 place de verdun
59045 Lille cedex - France
Tel. (+33) 320 623 427
Fax (+33) 320 623 428
www.edbsl.net
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Calendrier - Soutenances de thèse

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nombre de soutenances de la sélection : 3
U_Lille (MED)
LEBSIR Nadjet  envoyer un message
mercredi 19 décembre 2018
(14h00) - Amphi de l'institut de biologie de Lille
Études sur l'interaction entre le virus de l'hépatite C et le facteur cellulaire proviral GBF1
 
résumé (français)
abstract (english)
Unité de recherche : UMR8204-U1019 éq. 05 (MOLECULAR AND CELLULAR VIROLOGY)
directeur de thèse : Yves ROUILLE
 
U_Lille (MED)
DERHOURHI Mehdi  envoyer un message
mercredi 19 décembre 2018
(14h00) - Fac. de Médecine - Pôle Recherche - Salle des thèses
Nouvelle technique de détection simultanée des variant ponctuels et des copy number variants dans l'obésité monogénique
New Method for the simultaneous detection of punctual variations and copy number variants in monogenic obesity
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Genetics, and by extention DNA sequencing, are tools that have modified the understanding of the mechanisms involved in genetic diseases, like obesity. Today's technology has allowed us to rapidly find if a patient carries a genetic event that may explain his/her pathology. One of the most used technology for diagnostic is exome sequencing, or WES, which enables an excellent detection of point mutations in coding regions of the genome. However other events, such as copy number variations, or CNV, can also explain some pathologies, like a severe form of obesity due to CNV in the chr16p11.2 region. Actually, the gold standard method for an accurate detection of CNV is array CGH, but this technology cannot detect new point mutations. Exome sequencing can be used to detect CNV, but the lack of coverage in non-coding regions limits CNV detection sensitivity. Of note, whole genome sequencing can detect both CNVs and point mutations, but it is still very expensive and needs huge informatics capacities, which is an obvious limitation for a routine diagnostic use.
For now, we have had to use two different methods in order to accurately detect both CNVs and point mutations. In other words, we have had to use precious samples two times, to assume the cost of two different methods (which is nearly 450 euros in the laboratory for exome sequencing, and a bit more for array CGH in a clinical laboratory), and to consider the time of the realization of two different methods in order to achieve a complete diagnostic.
In this context, we aimed to develop an innovative sequencing method, named CoDE-seq (Copy number variation Detection and Exome sequencing), which would allow us to simultaneously detect both CNVs and point mutations, in order to reduce the time of diagnostic, the cost, and the needed quantity of sample.
This work included the method conception, and the data analysis steps. The method conception has been done through the creation of a new capture enabling the detection of point mutations in the exome, and CNVs all along the genome. Furthermore, the data analysis step included the choice of the bioinformatics methods to be used, in order to get a specific and sensitive CNV detection, all along the genome.

résumé (français)
Unité de recherche : UMR CNRS 8199 éq. 01 (GÉNOMIQUE ET ÉPIGÉNOMIQUE DES MALADIES MÉTABOLIQUES )
directeur de thèse : Amélie BONNEFOND
 
U_Lille (MED)
BENLABED Abdelmalik  envoyer un message
mercredi 19 décembre 2018
(14h00) - Faculté de Pharmacie Salle Cazin
Évaluation de l'exposition du patient adulte aux particules issues des incompatibilités entre médicaments injectables utilisés en anesthésie et réanimation
 
résumé (français)
abstract (english)
Unité de recherche : EA7365 éq. 03 (MODÉLISATION BIOPHARMACEUTIQUE ET PHARMACOCINÉTIQUE)
directeur de thèse : Gilles LEBUFFE