Scientific topics
Keywords
Marie de TAYRAC PhD Biology & Medical Science
Course and current status
MCU-PH in Biochemistry and Molecular Biology since 2011, Medical School, University of Rennes1
Research Team “Genetics of pathologies related to the development” – Leader Prof. V. David, UMR 6290 CNRS, Rennes Genetics and Development Institute, University of Rennes1. http://igdr.univ-rennes1.fr
Department of Molecular Genetics and Genomics, University Hospital of Rennes. https://www.chu-rennes.fr
Scientific summary
My research activity is focused on deciphering the molecular genetic basis of human diseases. I am particularly interested in complexe genetics disease and diagnosis, and particularly in developing capabilities to characterize the genetic initiation of disease. During my PhD in Biology and Health Science (Translational Oncogenomic - CNRS IGDR Rennes), I developed a new theme around the definition of new molecular biomarkers in brain tumours, which is now an integral part of the Grand-Ouest Glioma network (http://www.canceropole-grandouest.com/index.php/reseau-gliome-grand-ouest.html). During my postdoctoral fellowship in statistical genetics and epidemiology (Inserm U946, Dr E. Genin), I worked on the contribution of population genetics to the study of human diseases. Our main objective was to identify modifier genes for hemochromatosis HFE (ANR and national PHRC 2008). In 2011, I joined the Department of Molecular Genetics and Genomics at Rennes CHU to develop projects based on sequencing the coding parts of the genome (exome) and deep sequencing of candidate regions. I coordinate the implementation of computational and bioinformatics methods for the analysis of next generation sequencing data to allow routine molecular tests and to identify new susceptibility genes for various diseases of unknown genetic cause.
I recently joined the “Genetics of pathologies related to development” research team lead by Prof. V. David to develop activities in Genetic Epidemiology and to help deciphering the genetic basis of Holoprosencephaly.
Expertises
Human disease molecular diagnostics – Next Generation Sequencing and routine diagnostics.
Translational research – Whole exome sequencing, identification of disease-causing mutations.
Genetics – Human and medical genetics, molecular genetics, statistical analysis of large-scale biological data, statistical modelling, genetic risk prediction in complex diseases, population genetics.
Bioinformatics and Genomics – Design and analysis of high-throughput experiments, identification of genomic alterations (e.g., structural variation, heterogeneous samples, DNA sequence variation), functional annotation, integration of heterogeneous biological data.
