Seminar: Prof. Jeroen Bakkers

Of fish and men: Towards personalised models for genetic diseases

Date:
12 February 2015 15:00 hrs. - 16:00 hrs.
Location:
Figdor Lecture Theatre, 8th floor RIMLS Building, Geert Grooteplein 26-28, route 289
Title:
Of fish and men: Towards personalised models for genetic diseases
Speaker(s):

Prof. Jeroen Bakkers, Hubrecht Institute, Utrecht, the Netherlands

Host(s):

Dr. Leonie Kamminga, Dept. of Molecular Biology, RIMLS

12-02-2015 15:00:0012-02-2015 16:00:00Europe/AmsterdamOf fish and men: Towards personalised models for genetic diseases Figdor Lecture Theatre, 8th floor RIMLS Building, Geert Grooteplein 26-28, route 289Rimlsrimls@radboudumc.nl

Remarks / more information:

Bakkers , JeroenRecent genome-wide association studies and large-scale sequencing efforts have established the importance of genetic factors in causing cardiovascular diseases. The lack of appropriate in vivo models to test the biological relevance of identified gene variants is currently the bottleneck for understanding the genetic causes of cardiovascular diseases.

To understand the pathogenicity of gene variants identified in high-throughput sequencing projects, we have developed an efficient pipeline to create in vivo disease models in the genetically tractable zebrafish model. We are currently applying CRISPR-Cas genome-engineering tools  to test known or yet-to-be identified gene variants identified in patients with syndromic or non-syndromic congenital diseases and I will discuss the technology and our latest results. 

Key publications:
•Genome-wide RNA tomography in the zebrafish embryo. Cell, 159: 662-675, 2014
•A human dysrhythmia syndrome affecting heart and gut is associated with mutations in SGOL1. Nat. Genet.  46: 1245-9, 2014
•Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. Development 141: 1961-70, 2014

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