En raison de l’épidémie du Covid-19, le séminaire est annulé: Dr Erica E. Davis (Duke university) le 16/03/20 pour sa présentation « Multidisciplinary studies to model the pediatric morbid genome”
Abstract : Multidisciplinary studies to model the pediatric morbid genome
Variant data have been cataloged for millions of humans, representative of Mendelian disease cohorts, complex trait consortia, and healthy populations. This flood of information, expected to grow hyper-exponentially in the coming years, has already fueled the development of animal models to assign physiological relevance of genotype to phenotype; to inform variant pathogenicity; and to dissect multi-locus interactions. Here, we discuss our experience with the zebrafish model and its refined molecular toolkit to conduct scalable throughput analyses of novel disease genes implicated in rare pediatric disease in humans. We place particular emphasis on congenital anomalies in children impacting the structure of the brain, face, and kidney due to their direct anatomical surrogates in the developing zebrafish. Here, we highlight zebrafish anatomical data with human or animal derived transcriptomics and proteomics studies to elucidate underlying pathomechanism. In addition to the application of our work to inform human health, we will discuss our implementation of automated image acquisition platforms, sensitivity and specificity metrics, and comparisons between transient and CRISPR/Cas9 zebrafish mutant models.
Biographie du Dr Erica E. Davis
Erica Davis is a human genetics researcher at the Stanley Manne Children’s Research Institute at the Ann and Robert H. Lurie Children’s Hospital of Chicago. She is Associate Professor in the Departments of Pediatrics and Cell and Molecular Biology at the Northwestern University Feinberg School of Medicine.
Dr. Davis obtained her Doctorate degree in Molecular Genetics from University of Liège (Belgium) in 2005. She was a Postdoctoral fellow in the Institute of Genetic Medicine at Johns Hopkins University from 2005-2009 and completed her postdoctoral work in the Department of Cell Biology at Duke University from 2009-2010.
Dr. Davis was an aspiring veterinarian starting from early childhood. Halfway through her undergraduate studies in Animal Science, she shifted her career goals to merge a large animal livestock background with another topic that always fascinated her: genetics. This took her to Belgium to study sheep genetics under the mentorship of Michel Georges to investigate the molecular basis of the ovine callipyge locus. After obtaining her PhD, Dr. Davis returned stateside to continue as an academic researcher, but to apply her skillset toward understanding the genetic architecture of a different specie: humans, particularly those with rare pediatric genetic conditions.
Dr. Davis had her first faculty appointment at Duke University (from 2010-2019), bridging clinical and basic science departments with appointments in Pediatrics (Division of Neonatology) and Cell Biology, respectively. Her research program stems from the knowledge and toolkit gained from her postdoctoral work on the ciliopathies and follows research threads in understanding the architecture of rare pediatric disorders impacting development of the brain, face, kidney, and heart using zebrafish, mouse, and cell-based assays. In 2019, she relocated to Chicago to be part of a new research center, the Advanced Center for Translational and Genetic Medicine (ACT-GeM).
She is a strong advocate for families with rare human genetic disorders; she takes pride in mentorship of students and postdocs; and is an avid proponent for collaborative multidisciplinary research wherein the whole is greater than the sum of the individual parts.
- Dr Christelle Golzio (IGBMC), 11 mai 2020 (salle de cours de l’ancienne clinique d’ophtalmo)