Models of Heritable Human Diseases

Due to the ease of genetic manipulation, human heritable disorders can be modeled in zebrafish to understand the cellular pathology in more detail. This is of particular importance for progressive degenerative eye disease, where human biopsies are only available post mortem.

Towards this end we are in the progress of manipulating known or recently discovered human disease genes. Our particular focus is ocular defects in ciliopathies, cone dystrophies, and congenital stationary night blindness.

Our work on cilipathies are performed in close collaboration with Prof. Ruxandra Bachmann-Gagescu (http://www.medgen.uzh.ch/en/forschung/Research-Group-Bachmann-Gagescu.html).  

Additionally, we also model other diseases linked to our other research interests, for instance epilepsy.

People involved:

Domino Schlegel, MSc

Adriana Hotz, MSc

The Neuhauss Lab on TV about the Infantile Nystagmus Syndrome

The SRF Einstein Episode from 21.04.2011 about Zebrafish science in Zurich.

The video is in German.
 

Selected publications:

Ojeda Naharros I et al.. (2017). Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genet. 2017 Dec 27;13(12):e1007150.

Van De Weghe JC et al. , (2017). Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 101(1):23-36-

Bachmann-Gagescu R et al. (2015).The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. PLoS Genet. 2015 Oct 20;11(10):e1005575.

Gopal SR et al.. (2015). Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. J Neurosci. 35(28):10188-201

Conte I et al. (2015). MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A. 112: E3236-45

Tuz K et al. (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy Amercian Journal of Human Genetics 94, 1-11

Huber-Reggi SP, Chen CC, Grimm L, Straumann D, Neuhauss SC, Huang MY (2012). Severity of Infantile Nystagmus Syndrome-Like Ocular Motor Phenotype Is Linked to the Extent of the Underlying Optic Nerve Projection Defect in Zebrafish belladonna Mutant. J Neurosci. 32(50):18079-86

Gestri, G., Link, B, Neuhauss SC (2012) The visual system of zebrafish and its use to model human diseases. Dev Neurobiol. 72(3); 302-327